pristanic acid : A branched, long-chain saturated fatty acid composed of pentadecanoic acid having methyl substituents at the 2-, 6-, 10- and 14-positions. [Chemical Entities of Biological Interest (ChEBI), Hastings J, Owen G, Dekker A, Ennis M, Kale N, Muthukrishnan V, Turner S, Swainston N, Mendes P, Steinbeck C. (2016). ChEBI in 2016: Improved services and an expanding collection of metabolites. Nucleic Acids Res]
| ID Source | ID |
|---|---|
| PubMed CID | 123929 |
| CHEMBL ID | 1316599 |
| CHEBI ID | 51340 |
| SCHEMBL ID | 716925 |
| MeSH ID | M0043621 |
| Synonym |
|---|
| acido pristanico |
| pristaninsaeure |
| 2,6,10,14-tetramethylpentadecylic acid |
| acide pristanique |
| CHEBI:51340 , |
| 1189-37-3 |
| 2,6,10,14-tetramethyl-pentadecansaeure |
| 2,6,10,14-tetramethylpentadecanoic acid |
| pristanic acid |
| NCGC00167589-01 |
| pentadecanoic acid, 2,6,10,14-tetramethyl- |
| 2,6,10,14-tetramethyl-pentadecanoic acid |
| LMPR0104010022 |
| pentadecanoic acid,2,6,10,14-tetramethyl- |
| 5fmq2908ap , |
| unii-5fmq2908ap |
| SCHEMBL716925 |
| CHEMBL1316599 |
| J-003916 |
| pristanate:(2s,6r,10r)-pristanate |
| (2s)-pristanic acid |
| (2s,6r,10r)-pristanic acid |
| (2s,6r,10r)-2,6,10,14-tetramethylpentadecanoate |
| Q2057079 |
| DTXSID00862584 |
| HY-113024 |
| CS-0059377 |
| Role | Description |
|---|---|
| human metabolite | Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). |
| [role information is derived from Chemical Entities of Biological Interest (ChEBI), Hastings J, Owen G, Dekker A, Ennis M, Kale N, Muthukrishnan V, Turner S, Swainston N, Mendes P, Steinbeck C. (2016). ChEBI in 2016: Improved services and an expanding collection of metabolites. Nucleic Acids Res] | |
| Class | Description |
|---|---|
| branched-chain saturated fatty acid | Any saturated fatty acid with a carbon side-chain or isopropyl termination. |
| long-chain fatty acid | A fatty acid with a chain length ranging from C13 to C22. |
| methyl-branched fatty acid | Any branched-chain fatty acid containing methyl branches only. |
| [compound class information is derived from Chemical Entities of Biological Interest (ChEBI), Hastings J, Owen G, Dekker A, Ennis M, Kale N, Muthukrishnan V, Turner S, Swainston N, Mendes P, Steinbeck C. (2016). ChEBI in 2016: Improved services and an expanding collection of metabolites. Nucleic Acids Res] | |
| Pathway | Proteins | Compounds |
|---|---|---|
| Oxidation of Branched-Chain Fatty Acids | 11 | 22 |
| Phytanic Acid Peroxisomal Oxidation | 6 | 20 |
| Refsum Disease | 6 | 20 |
| Protein | Taxonomy | Measurement | Average (µ) | Min (ref.) | Avg (ref.) | Max (ref.) | Bioassay(s) |
|---|---|---|---|---|---|---|---|
| Bloom syndrome protein isoform 1 | Homo sapiens (human) | Potency | 28.1838 | 0.5406 | 17.6392 | 96.1227 | AID2528 |
| vitamin D3 receptor isoform VDRA | Homo sapiens (human) | Potency | 63.0957 | 0.3548 | 28.0659 | 89.1251 | AID504847 |
| DNA polymerase kappa isoform 1 | Homo sapiens (human) | Potency | 29.9349 | 0.0316 | 22.3146 | 100.0000 | AID588579 |
| histone acetyltransferase KAT2A isoform 1 | Homo sapiens (human) | Potency | 11.2202 | 0.2512 | 15.8432 | 39.8107 | AID504327 |
| [prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023] | |||||||
| Timeframe | Studies, This Drug (%) | All Drugs % |
|---|---|---|
| pre-1990 | 3 (2.94) | 18.7374 |
| 1990's | 51 (50.00) | 18.2507 |
| 2000's | 28 (27.45) | 29.6817 |
| 2010's | 19 (18.63) | 24.3611 |
| 2020's | 1 (0.98) | 2.80 |
| [information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023] | ||
According to the monthly volume, diversity, and competition of internet searches for this compound, as well the volume and growth of publications, there is estimated to be moderate demand-to-supply ratio for research on this compound.
| This Compound (34.22) All Compounds (24.57) |
| Publication Type | This drug (%) | All Drugs (%) |
|---|---|---|
| Trials | 2 (1.94%) | 5.53% |
| Reviews | 8 (7.77%) | 6.00% |
| Case Studies | 16 (15.53%) | 4.05% |
| Observational | 0 (0.00%) | 0.25% |
| Other | 77 (74.76%) | 84.16% |
| [information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023] | ||
| Substance | Relationship Strength | Studies | Trials | Classes | Roles |
|---|---|---|---|---|---|
| carnitine [no description available] | 8.11 | 5 | 0 | amino-acid betaine | human metabolite; mouse metabolite |
| dihydroxyacetone phosphate Dihydroxyacetone Phosphate: An important intermediate in lipid biosynthesis and in glycolysis.. dihydroxyacetone phosphate : A member of the class of glycerone phosphates that consists of glycerone bearing a single phospho substituent. | 1.99 | 1 | 0 | glycerone phosphates; primary alpha-hydroxy ketone | Escherichia coli metabolite; human metabolite; mouse metabolite; Saccharomyces cerevisiae metabolite |
| pipecolic acid pipecolic acid: RN given refers to cpd without isomeric designation. pipecolic acid : A piperidinemonocarboxylic acid in which the carboxy group is located at position C-2.. pipecolate : A piperidinecarboxylate that is the conjugate base of pipecolic acid. | 2.71 | 3 | 0 | piperidinemonocarboxylic acid | |
| melatonin [no description available] | 2.1 | 1 | 0 | acetamides; tryptamines | anticonvulsant; central nervous system depressant; geroprotector; hormone; human metabolite; immunological adjuvant; mouse metabolite; radical scavenger |
| palmitic acid Palmitic Acid: A common saturated fatty acid found in fats and waxes including olive oil, palm oil, and body lipids.. hexadecanoic acid : A straight-chain, sixteen-carbon, saturated long-chain fatty acid. | 2.39 | 2 | 0 | long-chain fatty acid; straight-chain saturated fatty acid | algal metabolite; Daphnia magna metabolite; EC 1.1.1.189 (prostaglandin-E2 9-reductase) inhibitor; plant metabolite |
| picolinic acid picolinic acid: iron-chelating agent that inhibits DNA synthesis; may interfere with iron-dependent production of stable free organic radical which is essential for ribonucleotide reductase formation of deoxyribonucleotides; RN given refers to parent cpd; structure in Merck Index, 9th ed, #7206. picolinic acid : A pyridinemonocarboxylic acid in which the carboxy group is located at position 2. It is an intermediate in the metabolism of tryptophan. | 2.01 | 1 | 0 | pyridinemonocarboxylic acid | human metabolite; MALDI matrix material |
| propionic acid propionic acid : A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group. | 6.97 | 1 | 0 | saturated fatty acid; short-chain fatty acid | antifungal drug |
| ciprofibrate [no description available] | 1.98 | 1 | 0 | cyclopropanes; monocarboxylic acid; organochlorine compound | antilipemic drug |
| clofibrate angiokapsul: contains clofibrate & insoitolnicotinate | 6.98 | 1 | 0 | aromatic ether; ethyl ester; monochlorobenzenes | anticholesteremic drug; antilipemic drug; geroprotector; PPARalpha agonist |
| clofibric acid Clofibric Acid: An antilipemic agent that is the biologically active metabolite of CLOFIBRATE.. clofibric acid : A monocarboxylic acid that is isobutyric acid substituted at position 2 by a p-chlorophenoxy group. It is a metabolite of the drug clofibrate. | 1.98 | 1 | 0 | aromatic ether; monocarboxylic acid; monochlorobenzenes | anticholesteremic drug; antilipemic drug; antineoplastic agent; herbicide; marine xenobiotic metabolite; PPARalpha agonist |
| erythrosine Fluoresceins: A family of spiro(isobenzofuran-1(3H),9'-(9H)xanthen)-3-one derivatives. These are used as dyes, as indicators for various metals, and as fluorescent labels in immunoassays. | 2.1 | 1 | 0 | ||
| stearic acid octadecanoic acid : A C18 straight-chain saturated fatty acid component of many animal and vegetable lipids. As well as in the diet, it is used in hardening soaps, softening plastics and in making cosmetics, candles and plastics. | 1.97 | 1 | 0 | long-chain fatty acid; saturated fatty acid; straight-chain saturated fatty acid | algal metabolite; Daphnia magna metabolite; human metabolite; plant metabolite |
| arginine Arginine: An essential amino acid that is physiologically active in the L-form.. arginine : An alpha-amino acid that is glycine in which the alpha-is substituted by a 3-guanidinopropyl group. | 2.13 | 1 | 0 | arginine; glutamine family amino acid; L-alpha-amino acid; proteinogenic amino acid | biomarker; Escherichia coli metabolite; micronutrient; mouse metabolite; nutraceutical |
| phencyclidine Phencyclidine: A hallucinogen formerly used as a veterinary anesthetic, and briefly as a general anesthetic for humans. Phencyclidine is similar to KETAMINE in structure and in many of its effects. Like ketamine, it can produce a dissociative state. It exerts its pharmacological action through inhibition of NMDA receptors (RECEPTORS, N-METHYL-D-ASPARTATE). As a drug of abuse, it is known as PCP and Angel Dust.. phencyclidine : A member of the class of piperidines that is piperidine in which the nitrogen is substituted with a 1-phenylcyclohexyl group. Formerly used as an anaesthetic agent, it exhibits both hallucinogenic and neurotoxic effects. | 2.03 | 1 | 0 | benzenes; piperidines | anaesthetic; neurotoxin; NMDA receptor antagonist; psychotropic drug |
| rotenone Derris: A plant genus of the family FABACEAE. The root is a source of rotenoids (ROTENONE) and flavonoids. Some species of Pongamia have been reclassified to this genus and some to MILLETTIA. Some species of Deguelia have been reclassified to this genus.. rotenoid : Members of the class of tetrahydrochromenochromene that consists of a cis-fused tetrahydrochromeno[3,4-b]chromene skeleton and its substituted derivatives. The term was originally restricted to natural products, but is now also used to describe semi-synthetic and fully synthetic compounds. | 1.98 | 1 | 0 | organic heteropentacyclic compound; rotenones | antineoplastic agent; metabolite; mitochondrial NADH:ubiquinone reductase inhibitor; phytogenic insecticide; piscicide; toxin |
| methyl palmitate [no description available] | 1.98 | 1 | 0 | fatty acid methyl ester | metabolite |
| potassium cyanide [no description available] | 1.98 | 1 | 0 | cyanide salt; one-carbon compound; potassium salt | EC 1.15.1.1 (superoxide dismutase) inhibitor; EC 1.9.3.1 (cytochrome c oxidase) inhibitor; neurotoxin |
| hexacosanoic acid hexacosanoic acid: a C(26) saturated acid. hexacosanoic acid : A 26-carbon, straight-chain, saturated fatty acid. | 2.38 | 2 | 0 | fatty acid 26:0; straight-chain saturated fatty acid; very long-chain fatty acid | |
| malondialdehyde Malondialdehyde: The dialdehyde of malonic acid.. malonaldehyde : A dialdehyde that is propane substituted by two oxo groups at the terminal carbon atoms respectively. A biomarker of oxidative damage to lipids caused by smoking, it exists in vivo mainly in the enol form. | 2.1 | 1 | 0 | dialdehyde | biomarker |
| lignoceric acid lignoceric acid: RN given refers to parent cpd; structure. tetracosanoic acid : A C24 straight-chain saturated fatty acid. | 2 | 1 | 0 | straight-chain saturated fatty acid; very long-chain fatty acid | Daphnia tenebrosa metabolite; human metabolite; plant metabolite; volatile oil component |
| phytane [no description available] | 2.03 | 1 | 0 | diterpene | |
| dodecanedioic acid dodecanedioic acid: RN given refers to parent cpd. dodecanedioic acid : An alpha,omega-dicarboxylic acid that is dodecane in which the methyl groups have been oxidised to the corresponding carboxylic acids. | 1.98 | 1 | 0 | alpha,omega-dicarboxylic acid; dicarboxylic fatty acid | EC 1.1.1.1 (alcohol dehydrogenase) inhibitor; human metabolite |
| d-alpha tocopherol Vitamin E: A generic descriptor for all TOCOPHEROLS and TOCOTRIENOLS that exhibit ALPHA-TOCOPHEROL activity. By virtue of the phenolic hydrogen on the 2H-1-benzopyran-6-ol nucleus, these compounds exhibit varying degree of antioxidant activity, depending on the site and number of methyl groups and the type of ISOPRENOIDS.. tocopherol : A collective name for a group of closely related lipids that contain a chroman-6-ol nucleus substituted at position 2 by a methyl group and by a saturated hydrocarbon chain consisting of three isoprenoid units. They are designated as alpha-, beta-, gamma-, and delta-tocopherol depending on the number and position of additional methyl substituents on the aromatic ring. Tocopherols occur in vegetable oils and vegetable oil products, almost exclusively with R,R,R configuration. Tocotrienols differ from tocopherols only in having three double bonds in the hydrocarbon chain.. vitamin E : Any member of a group of fat-soluble chromanols that exhibit biological activity against vitamin E deficiency. The vitamers in this class consists of a chroman-6-ol core which is substituted at position 2 by a methyl group and (also at position 2) either a saturated or a triply-unsaturated hydrocarbon chain consisting of three isoprenoid units. The major function of vitamin E is to act as a natural antioxidant by scavenging free radicals and molecular oxygen.. (R,R,R)-alpha-tocopherol : An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils. | 2.52 | 2 | 0 | alpha-tocopherol | algal metabolite; antiatherogenic agent; anticoagulant; antioxidant; antiviral agent; EC 2.7.11.13 (protein kinase C) inhibitor; immunomodulator; micronutrient; nutraceutical; plant metabolite |
| pristane pristane: structure. pristane : A norterpene that is an acyclic saturated hydrocarbon derived from phytane by loss of its C-16 terminal methyl group. | 2.03 | 1 | 0 | long-chain alkane; norterpene | biomarker; immunological adjuvant |
| mercury Mercury: A silver metallic element that exists as a liquid at room temperature. It has the atomic symbol Hg (from hydrargyrum, liquid silver), atomic number 80, and atomic weight 200.59. Mercury is used in many industrial applications and its salts have been employed therapeutically as purgatives, antisyphilitics, disinfectants, and astringents. It can be absorbed through the skin and mucous membranes which leads to MERCURY POISONING. Because of its toxicity, the clinical use of mercury and mercurials is diminishing.. mercury(0) : Elemental mercury of oxidation state zero. | 2.03 | 1 | 0 | elemental mercury; zinc group element atom | neurotoxin |
| deuterium Deuterium: The stable isotope of hydrogen. It has one neutron and one proton in the nucleus. | 3.38 | 1 | 1 | dihydrogen | |
| phytanic acid Phytanic Acid: A 20-carbon branched chain fatty acid. In phytanic acid storage disease (REFSUM DISEASE) this lipid may comprise as much as 30% of the total fatty acids of the plasma. This is due to a phytanic acid alpha-hydroxylase deficiency.. phytanic acid : A branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15. | 9.43 | 64 | 1 | branched-chain saturated fatty acid; long-chain fatty acid; methyl-branched fatty acid | |
| s-adenosylmethionine acylcarnitine: structure in first source. S-adenosyl-L-methioninate : A sulfonium betaine that is a conjugate base of S-adenosyl-L-methionine obtained by the deprotonation of the carboxy group. | 2.73 | 3 | 0 | sulfonium betaine | human metabolite |
| ethyl 2-(5-(4-chlorophenyl)pentyl)oxiran-2-carboxylate [no description available] | 1.98 | 1 | 0 | ||
| 2',7'-dichlorofluorescein 2',7'-dichlorofluorescein: RN given refers to parent cpd | 2.1 | 1 | 0 | 2-benzofurans | fluorochrome |
| coenzyme a [no description available] | 3.25 | 6 | 0 | adenosine 3',5'-bisphosphate | coenzyme; Escherichia coli metabolite; mouse metabolite |
| propionyl-coenzyme a propionyl-coenzyme A: RN given refers to parent cpd | 1.98 | 1 | 0 | acyl-CoA | Escherichia coli metabolite; metabolite; mouse metabolite |
| 5-alpha-dihydroprogesterone 5-alpha-Dihydroprogesterone: A biologically active 5-alpha-reduced metabolite of plasma PROGESTERONE. It is the immediate precursor of 5-alpha-pregnan-3-alpha-ol-20-one (ALLOPREGNANOLONE), a neuroactive steroid that binds with GABA(A) RECEPTOR.. 5alpha-pregnane-3,20-dione : A C21-steroid hormone that is 5alpha-pregnane substituted by oxo groups at positions 3 and 20. It is a metabolite of progestrone. | 2.01 | 1 | 0 | 20-oxo steroid; 3-oxo-5alpha-steroid; C21-steroid hormone | human metabolite; progestogen |
| 3,7,11,15-tetramethyl-1-hexadecanol 3,7,11,15-tetramethyl-1-hexadecanol: intermediate in conversion of phytol to phytanic acid | 2.15 | 1 | 0 | ||
| 2-methylhexadecanoic acid 2-methylhexadecanoic acid: see also cpd with unspecified methyl position: 112-39-0. 2-methylhexadecanoic acid : A methyl-branched fatty acid that is hexadecanoic (palmitic) acid bearing a methyl substituent at position 2. | 2.4 | 2 | 0 | branched-chain saturated fatty acid; long-chain fatty acid; methyl-branched fatty acid | |
| 3,7,12-trihydroxycholestan-26-oic acid 3,7,12-trihydroxycholestan-26-oic acid: RN given refers to (3alpha,5beta,7alpha,12alpha)-isomer. 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oic acid : A steroid acid that is 5beta-cholestan-26-oic acid which is substituted by hydroxy groups as the 3alpha, 7alpha, and 12alpha positions. | 2.39 | 2 | 0 | 12alpha-hydroxy steroid; 3alpha-hydroxy steroid; 7alpha-hydroxy steroid; hydroxy monocarboxylic acid; steroid acid | human metabolite |
| phytol [no description available] | 4.4 | 6 | 0 | ||
| 3-methylheptadecanoic acid 3-methylheptadecanoic acid: myocardial metabolic tracer tagged with C-11; RN given refers to unlabeled cpd | 1.98 | 1 | 0 | ||
| 2-hydroxyphytanic acid 2-hydroxyphytanic acid: structure. 2-hydroxyphytanic acid : An alpha-hydroxy fatty acid formed from phytanic acid by bacterial cytochrome P450; and also formed in human peroxisomal disorders. | 2.39 | 2 | 0 | 2-hydroxy fatty acid | |
| inositol 1,4,5-trisphosphate Inositol 1,4,5-Trisphosphate: Intracellular messenger formed by the action of phospholipase C on phosphatidylinositol 4,5-bisphosphate, which is one of the phospholipids that make up the cell membrane. Inositol 1,4,5-trisphosphate is released into the cytoplasm where it releases calcium ions from internal stores within the cell's endoplasmic reticulum. These calcium ions stimulate the activity of B kinase or calmodulin. | 2.06 | 1 | 0 | myo-inositol trisphosphate | mouse metabolite |
| phytanoyl-coenzyme a [no description available] | 2.41 | 2 | 0 | ||
| 3,7-dihydroxycholestan-26-oic acid [no description available] | 1.98 | 1 | 0 | ||
| palmitoyl coenzyme a Palmitoyl Coenzyme A: A fatty acid coenzyme derivative which plays a key role in fatty acid oxidation and biosynthesis.. palmitoyl-CoA : A long-chain fatty acyl-CoA resulting from the formal condensation of the carboxy group of hexadecanoic acid with the thiol group of coenzyme A. | 1.99 | 1 | 0 | 11,12-saturated fatty acyl-CoA; 3-substituted propionyl-CoA; long-chain fatty acyl-CoA; palmitoyl bioconjugate | Escherichia coli metabolite; mouse metabolite |
| bilirubin [no description available] | 3 | 1 | 0 | biladienes; dicarboxylic acid | antioxidant; human metabolite; mouse metabolite |
| linoleic acid Linoleic Acid: A doubly unsaturated fatty acid, occurring widely in plant glycosides. It is an essential fatty acid in mammalian nutrition and is used in the biosynthesis of prostaglandins and cell membranes. (From Stedman, 26th ed). linoleic acid : An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry. | 2.06 | 1 | 0 | octadecadienoic acid; omega-6 fatty acid | algal metabolite; Daphnia galeata metabolite; plant metabolite |
| sulfur Sulfur: An element that is a member of the chalcogen family. It has an atomic symbol S, atomic number 16, and atomic weight [32.059; 32.076]. It is found in the amino acids cysteine and methionine. | 2.03 | 1 | 0 | chalcogen; nonmetal atom | macronutrient |
| docosapentaenoic acid docosapentaenoic acid : Any straight-chain, C22 fatty acid having five C=C double bonds.. (7Z,10Z,13Z,16Z,19Z)-docosapentaenoic acid : The all-cis-isomer of a C22 polyunsaturated fatty acid having five double bonds in the 7-, 10-, 13-, 16- and 19-positions. | 2.03 | 1 | 0 | docosapentaenoic acid; omega-3 fatty acid | algal metabolite; human metabolite |
| antimycin a Antimycin A: An antibiotic substance produced by Streptomyces species. It inhibits mitochondrial respiration and may deplete cellular levels of ATP. Antimycin A1 has been used as a fungicide, insecticide, and miticide. (From Merck Index, 12th ed). antimycin A : A nine-membered bis-lactone having methyl substituents at the 2- and 6-positions, an n-hexyl substituent at the 8-position, an acyloxy substituent at the 7-position and an aroylamido substituent at the 3-position. It is produced by Streptomyces bacteria and has found commercial use as a fish poison. | 1.98 | 1 | 0 | amidobenzoic acid | |
| gw9508 GW9508: structure in first source | 2.06 | 1 | 0 | aromatic amine | |
| phytenic acid phytenic acid: intermediate in conversion of phytol to phytanic acid; RN given refers to cpd without isomeric designation | 2.02 | 1 | 0 | diterpenoid | |
| pristanal pristanal: structure given in first source | 2.4 | 2 | 0 | 2-methyl-branched fatty aldehyde; saturated fatty aldehyde | human metabolite |
| nad NAD(1-) : An anionic form of nicotinamide adenine dinucleotide arising from deprotonation of the two OH groups of the diphosphate moiety. | 1.99 | 1 | 0 | organophosphate oxoanion | cofactor; human metabolite; hydrogen acceptor; Saccharomyces cerevisiae metabolite |
| antimycin [no description available] | 1.98 | 1 | 0 | ||
| digitonin Digitonin: A glycoside obtained from Digitalis purpurea; the aglycone is digitogenin which is bound to five sugars. Digitonin solubilizes lipids, especially in membranes and is used as a tool in cellular biochemistry, and reagent for precipitating cholesterol. It has no cardiac effects.. digitonin : A spirostanyl glycoside that is digitogenin in which the 3-hydroxy group is substituted by a beta-D-glucopyranosyl-(1->3)-beta-D-galactopyranosyl-(1->2)-[beta-D-xylopyranosyl-(1->3)]-beta-D-glucopyranosyl-(1->4)-beta-D-galactopyranosyl group. It is a steroidal saponin isolated from the foxglove plant, Digitalis purpurea. It is used extensively as a mild non-ionic detergent for extracting proteins from membranes for structure and function studies. | 1.98 | 1 | 0 |
| Condition | Indicated | Relationship Strength | Studies | Trials |
|---|---|---|---|---|
| Carcinogenesis The origin, production or development of cancer through genotypic and phenotypic changes which upset the normal balance between cell proliferation and cell death. Carcinogenesis generally requires a constellation of steps, which may occur quickly or over a period of many years. | 0 | 3.17 | 1 | 0 |
| Disease Models, Animal Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases. | 0 | 3.95 | 4 | 0 |
| Benign Neoplasms [description not available] | 0 | 3.17 | 1 | 0 |
| Neoplasms New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms. | 0 | 3.17 | 1 | 0 |
| Adrenoleukodystrophy, Autosomal Neonatal Form [description not available] | 0 | 8.68 | 31 | 2 |
| Adult Refsum Disease [description not available] | 0 | 4.19 | 17 | 0 |
| Peroxisomal Disorders A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. | 0 | 8.68 | 31 | 2 |
| Cancer of Prostate [description not available] | 0 | 2.45 | 2 | 0 |
| Prostatic Neoplasms Tumors or cancer of the PROSTATE. | 0 | 2.45 | 2 | 0 |
| Liver Dysfunction [description not available] | 0 | 2.11 | 1 | 0 |
| Liver Diseases Pathological processes of the LIVER. | 0 | 2.11 | 1 | 0 |
| Child Development Deviations [description not available] | 0 | 2.13 | 1 | 0 |
| Deaf Mutism [description not available] | 0 | 2.13 | 1 | 0 |
| Decreased Muscle Tone [description not available] | 0 | 2.13 | 1 | 0 |
| Drooling [description not available] | 0 | 2.13 | 1 | 0 |
| Developmental Disabilities Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) | 0 | 2.13 | 1 | 0 |
| Deafness A general term for the complete loss of the ability to hear from both ears. | 0 | 2.13 | 1 | 0 |
| Sialorrhea Increased salivary flow. | 0 | 2.13 | 1 | 0 |
| Body Weight The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. | 0 | 2.44 | 2 | 0 |
| Necrosis The death of cells in an organ or tissue due to disease, injury or failure of the blood supply. | 0 | 2.05 | 1 | 0 |
| Genetic Predisposition [description not available] | 0 | 2.05 | 1 | 0 |
| CACH Syndrome [description not available] | 0 | 2.05 | 1 | 0 |
| Lipid Metabolism, Inborn Error [description not available] | 0 | 2.71 | 3 | 0 |
| Nervous System Disorders [description not available] | 0 | 2.05 | 1 | 0 |
| Absence Seizure [description not available] | 0 | 2.05 | 1 | 0 |
| Nervous System Diseases Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle. | 0 | 2.05 | 1 | 0 |
| Seizures Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder. | 0 | 2.05 | 1 | 0 |
| Dementia Praecox [description not available] | 0 | 2.05 | 1 | 0 |
| Rhabdomyolysis Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. | 0 | 2.05 | 1 | 0 |
| Schizophrenia A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior. | 0 | 2.05 | 1 | 0 |
| Brain Damage, Chronic A condition characterized by long-standing brain dysfunction or damage, usually of three months duration or longer. Potential etiologies include BRAIN INFARCTION; certain NEURODEGENERATIVE DISORDERS; CRANIOCEREBRAL TRAUMA; ANOXIA, BRAIN; ENCEPHALITIS; certain NEUROTOXICITY SYNDROMES; metabolic disorders (see BRAIN DISEASES, METABOLIC); and other conditions. | 0 | 2.06 | 1 | 0 |
| Adiadochokinesis [description not available] | 0 | 2.07 | 1 | 0 |
| Cochlear Hearing Loss [description not available] | 0 | 2.07 | 1 | 0 |
| Polyneuropathy, Acquired [description not available] | 0 | 2.45 | 2 | 0 |
| Pigmentary Retinopathy [description not available] | 0 | 3.64 | 3 | 0 |
| Cerebellar Ataxia Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90) | 0 | 2.07 | 1 | 0 |
| Hearing Loss, Sensorineural Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM. | 0 | 2.07 | 1 | 0 |
| Polyneuropathies Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance. | 0 | 2.45 | 2 | 0 |
| Retinitis Pigmentosa Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina. | 0 | 3.64 | 3 | 0 |
| Infant, Premature, Diseases Diseases that occur in PREMATURE INFANTS. | 0 | 3 | 1 | 0 |
| Bile Duct Obstruction [description not available] | 0 | 3 | 1 | 0 |
| Bilirubinemia [description not available] | 0 | 3 | 1 | 0 |
| Cholestasis Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS). | 0 | 3 | 1 | 0 |
| Cerebro-Hepato-Renal Syndrome [description not available] | 0 | 3.78 | 11 | 0 |
| Zellweger Syndrome An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis. | 0 | 3.78 | 11 | 0 |
| Diseases in Twins Disorders affecting TWINS, one or both, at any age. | 0 | 2.41 | 2 | 0 |
| Congenital Icthyosis Mental Retardation Spasticity Syndrome [description not available] | 0 | 2.41 | 2 | 0 |
| Sjogren-Larsson Syndrome An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism. | 0 | 2.41 | 2 | 0 |
| Depression, Endogenous [description not available] | 0 | 2.93 | 1 | 0 |
| Dysarthosis [description not available] | 0 | 2.93 | 1 | 0 |
| Brachial Paresis [description not available] | 0 | 2.93 | 1 | 0 |
| Abnormal Deep Tendon Reflex [description not available] | 0 | 2.93 | 1 | 0 |
| Action Tremor [description not available] | 0 | 2.93 | 1 | 0 |
| Depressive Disorder An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent. | 0 | 2.93 | 1 | 0 |
| Reflex, Abnormal An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes. | 0 | 2.93 | 1 | 0 |
| Tremor Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE. | 0 | 2.93 | 1 | 0 |
| Sterility, Male [description not available] | 0 | 2.03 | 1 | 0 |
| Infertility, Male The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility. | 0 | 2.03 | 1 | 0 |
| Dystonia An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77) | 0 | 2.03 | 1 | 0 |
| Symptom Cluster [description not available] | 0 | 2.03 | 1 | 0 |
| Cervical Dystonia A common form of DYSTONIA due to involuntary sustained or spasmodic, repetitive muscle contractions in the neck region. According to the position of the twisted neck and head, cervical dystonia can be categorized as torticollis, laterocollis, retrocollis, and a combination of these abnormal postures. | 0 | 2.03 | 1 | 0 |
| Acute Onset Vascular Dementia [description not available] | 0 | 2.03 | 1 | 0 |
| Syndrome A characteristic symptom complex. | 0 | 2.03 | 1 | 0 |
| Torticollis A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors. | 0 | 2.03 | 1 | 0 |
| Dementia, Vascular An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44) | 0 | 2.03 | 1 | 0 |
| Libman-Sacks Disease [description not available] | 0 | 2.03 | 1 | 0 |
| Lupus Erythematosus, Systemic A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. | 0 | 2.03 | 1 | 0 |
| Recrudescence [description not available] | 0 | 2.04 | 1 | 0 |
| Degenerative Disease, Nervous System, Hereditary [description not available] | 0 | 2.04 | 1 | 0 |
| Amentia [description not available] | 0 | 2.04 | 1 | 0 |
| Brain Diseases, Metabolic, Familial [description not available] | 0 | 2.04 | 1 | 0 |
| Dementia An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness. | 0 | 2.04 | 1 | 0 |
| Addison Disease and Cerebral Sclerosis [description not available] | 0 | 3.07 | 5 | 0 |
| Adrenoleukodystrophy An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). | 0 | 3.07 | 5 | 0 |
| Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions. | 0 | 6.99 | 1 | 0 |
| Nanism [description not available] | 0 | 1.99 | 1 | 0 |
| Acute Hypercapnic Respiratory Failure [description not available] | 0 | 1.99 | 1 | 0 |
| Chondrodysplasia Punctata, Rhizomelic An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497) | 0 | 1.99 | 1 | 0 |
| Dwarfism A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. | 0 | 1.99 | 1 | 0 |
| Respiratory Insufficiency Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed) | 0 | 1.99 | 1 | 0 |
| Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. | 0 | 2.39 | 2 | 0 |
| Niemann-Pick Disease [description not available] | 0 | 1.99 | 1 | 0 |
| Niemann-Pick Diseases A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences. | 0 | 1.99 | 1 | 0 |
| Sensitivity and Specificity Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed) | 0 | 3.38 | 1 | 1 |
| Malabsorption Syndromes General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients. | 0 | 2 | 1 | 0 |
| Deficiency, Vitamin K [description not available] | 0 | 2 | 1 | 0 |
| Vitamin K Deficiency A nutritional condition produced by a deficiency of VITAMIN K in the diet, characterized by an increased tendency to hemorrhage (HEMORRHAGIC DISORDERS). Such bleeding episodes may be particularly severe in newborn infants. (From Cecil Textbook of Medicine, 19th ed, p1182) | 0 | 2 | 1 | 0 |
| Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. | 0 | 2.01 | 1 | 0 |
| Abnormalities, Autosome [description not available] | 0 | 2.01 | 1 | 0 |
| Academic Disorder, Developmental [description not available] | 0 | 2.01 | 1 | 0 |
| Learning Disabilities Conditions characterized by a significant discrepancy between an individual's perceived level of intellect and their ability to acquire new language and other cognitive skills. These may result from organic or psychological conditions. Relatively common subtypes include DYSLEXIA, DYSCALCULIA, and DYSGRAPHIA. | 0 | 2.01 | 1 | 0 |
| Chondrodysplasia Punctata A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. | 0 | 2.67 | 3 | 0 |
| Inborn Errors of Metabolism [description not available] | 0 | 3.58 | 3 | 0 |
| Aging The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time. | 0 | 1.98 | 1 | 0 |
| Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. | 0 | 3.58 | 3 | 0 |
| Amino Acid Metabolism Disorders, Inborn [description not available] | 0 | 1.97 | 1 | 0 |
| Lipidoses Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved. | 0 | 1.97 | 1 | 0 |