saicar profile

SAICAR: adenosylsuccinase catalyzes its conversion to AICAR [Medical Subject Headings (MeSH), National Library of Medicine, extracted Dec-2023]

SAICAR : A 1-(phosphoribosyl)imidazolecarboxamide resulting from the formal condesation of the darboxy group of 5-amino-1-(5-O-phosphono-beta-D-ribofuranosyl)-1H-imidazole-4-carboxylic acid with the amino group of L-aspartic acid. [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	160666
CHEBI ID	18319
SCHEMBL ID	73325
SCHEMBL ID	19469429
MeSH ID	M0074525

Synonym
(2s)-2-[5-amino-1-(5-phospho-beta-d-ribosyl)imidazole-4-carboxamido]succinic acid
CHEBI:18319
n-{[5-amino-1-(5-o-phosphono-beta-d-ribofuranosyl)-1h-imidazol-4-yl]carbonyl}-l-aspartic acid
succinyl-5-aminoimidazole-4-carboxamide-1-ribose-5-phosphate
succinylaminoimidazolecarboxamide ribose-5'-phosphate
saica riboside
(2s)-2-[5-amino-1-(5-o-phosphono-beta-d-ribosyl)imidazole-4-carboxamido]succinic acid
5-amino-4-imidazole-n-succinocarbozamide ribonucleotide
succino-aicar
l-aspartic acid, n-[[5-amino-1-(5-o-phosphono-beta-d-ribofuranosyl)-1h-imidazol-4-yl]carbonyl]-
aspartic acid-n-[95-amino-1-b-d-ribofuranosylimidazol-4-yl)carbonyl]-5'-(dihydrogen phophate)-l-
5'-phosphoribosyl-4-(n-succinocarbozamide)-5-aminoimidazole
5'-phosphoribosyl-4-(n-succinocarboxamide)-5-aminoimidazole
3031-95-6
saicar
1-(5'-phosphoribosyl)-5-amino-4-(n-succinocarboxamide)-imidazole
1-(5'-phosphoribosyl)-4-(n-succinocarboxamide)-5-aminoimidazole
(s)-2-[5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido]succinate
C04823
(2s)-2-[[5-amino-1-[(2r,3r,4s,5r)-3,4-dihydroxy-5-(phosphonooxymethyl)oxolan-2-yl]imidazole-4-carbonyl]amino]butanedioic acid
n-((5-amino-1-(5-o-phosphono-beta-d-ribofuranosyl)-1h-imidazol-4-yl)carbonyl)-l-aspartic acid
5'-phosphoribosyl-4-(n-succinylcarboxamide)-5-aminoimidazole
n-(5-amino-1-beta-d-ribofuranosylimidazole-4-carbonyl)-l-aspartic acid 5'-phosphate
k1pvr64rif ,
unii-k1pvr64rif
5-amino-4-imidazole-n-succinocarboxamide ribonucleotide
SCHEMBL73325
l-aspartic acid, n-((5-amino-1-(5-o-phosphono-.beta.-d-ribofuranosyl)-1h-imidazol-4-yl)carbonyl)-
saicar [mi]
SCHEMBL19469429
(2s)-2-({5-amino-1-[(2r,3r,4s,5r)-3,4-dihydroxy-5-[(phosphonooxy)methyl]oxolan-2-yl]-1h-imidazol-4-yl}formamido)butanedioic acid
DTXSID90184404
AKOS030242259
J-017909
n-succinyl-5-aminoimidazole-4-carboxamide ribose 5'-phosphate
phosphoribosylaminoimidazolesuccinocarboxamide
saicariboside
(s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinic acid
n-[5-amino-1-(5'-phosphoribofuranosyl)-4-imidazolecarbonyl]aspartate
(s)-2-[5-amino-1-(5-phospho-delta-ribosyl)imidazole-4-carboxamido]succinate
(s)-2-(5-amino-1-(5-phospho-delta-ribosyl)imidazole-4-carboxamido)succinic acid
n-[5-amino-1-(5'-phosphoribofuranosyl)-4-imidazolecarbonyl]aspartic acid
n-(5-amino-1-ribofuranosylimidazol-4-ylcarbonyl)aspartic acid 5'-phosphate
(s)-2-(5-amino-1-(5-phospho-delta-ribosyl)imidazole-4-carboxamido)succinate
l-n-[(5-amino-1-b-d-ribofuranosylimidazol-4-yl)carbonyl]-5'-(dihydrogen phosphate)
l-n-[(5-amino-1-beta-delta-ribofuranosylimidazol-4-yl)carbonyl]-5'-(dihydrogen phosphate)
1-(5'-phosphoribosyl)-5-amino-4-(n-succinocarboxamide)-imidazole' 1-(5'-phosphoribosyl)-4-(n-succinocarboxamide)-5-aminoimidazole
(s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate
succino-aicar; succinyl-5-aminoimidazole-4-carboxamide-1-ribose-5'-phosphate
BCP28964
Q3502778
HY-126585
CS-0105784
bonylamino]butanedioic acid
ok8 ,
(2~{s})-2-[[5-azanyl-1-[(2~{r},3~{r},4~{s},5~{r})-3,4-bis(oxidanyl)-5-(phosphonooxymethyl)oxolan-2-yl]imidazol-4-yl]car
n-[[5-amino-1-(5-o-phosphono-b-d-ribofuranosyl)-1h-imidazol-4-yl]carbonyl]-l-aspartic acid
(2~{s})-2-[[5-azanyl-1-[(2~{r},3~{r},4~{s},5~{r})-3,4-bis(oxidanyl)-5-(phosphonooxymethyl)oxolan-2-yl]imidazol-4-yl]car bonylamino]butanedioic acid
n-[[5-amino-1-(5-o-phosphono-b-d-ribofuranosyl)-1h-imidazol-4-yl]carbonyl]-l-asparticacid

Role	Description
Escherichia coli metabolite	Any bacterial metabolite produced during a metabolic reaction in Escherichia coli.
mouse metabolite	Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus).
[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
1-(phosphoribosyl)imidazolecarboxamide
[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
Purine Metabolism	37	66
Adenosine Deaminase Deficiency	37	66
Adenylosuccinate Lyase Deficiency	37	66
Gout or Kelley-Seegmiller Syndrome	37	66
Lesch-Nyhan Syndrome (LNS)	37	66
Molybdenum Cofactor Deficiency	37	66
Xanthine Dehydrogenase Deficiency (Xanthinuria)	37	66
Purine Nucleoside Phosphorylase Deficiency	37	66
AICA-Ribosiduria	37	66
Azathioprine Action Pathway	47	82
Mercaptopurine Action Pathway	47	80
Thioguanine Action Pathway	47	81
Xanthinuria Type I	37	66
Xanthinuria Type II	37	66
Adenine Phosphoribosyltransferase Deficiency (APRT)	37	66
Mitochondrial DNA Depletion Syndrome-3	37	66
Myoadenylate Deaminase Deficiency	37	66
Purine Nucleotides De Novo Biosynthesis	29	45
Purine Nucleotides De Novo Biosynthesis 2	29	45
Mitochondrial DNA Depletion Syndrome	35	66
Purine nucleotides and Nucleosides metabolism ( Purine nucleotides and Nucleosides metabolism )	105	77
5'-Phospho-ribosyl-4-(N-succino-carboxamide)-5-amino-imidazole = 5'-Phospho-ribosyl-4-carboxamido-5-amino-imidazole + Fumaric acid ( Purine nucleotides and Nucleosides metabolism )	1	3
Purine metabolism	13	36
The impact of Nsp14 on metabolism (COVID-19 Disease Map)	0	84
purine nucleotides de novo biosynthesis I	0	39
superpathway of histidine, purine, and pyrimidine biosynthesis	0	64
purine nucleotides de novo biosynthesis II	0	33
Biochemical pathways: part I	0	466
Purine metabolism and related disorders	23	53

Timeframe	Studies, This Drug (%)	All Drugs %
pre-1990	5 (13.89)	18.7374
1990's	11 (30.56)	18.2507
2000's	9 (25.00)	29.6817
2010's	9 (25.00)	24.3611
2020's	2 (5.56)	2.80
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Publication Type	This drug (%)	All Drugs (%)
Trials	0 (0.00%)	5.53%
Reviews	0 (0.00%)	6.00%
Case Studies	6 (16.67%)	4.05%
Observational	0 (0.00%)	0.25%
Other	30 (83.33%)	84.16%
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Substance	Relationship Strength	Studies	Classes	Roles
adenine [no description available]	2.46	2	6-aminopurines; purine nucleobase	Daphnia magna metabolite; Escherichia coli metabolite; human metabolite; mouse metabolite; Saccharomyces cerevisiae metabolite
formic acid formic acid: RN given refers to parent cpd. formic acid : The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects.	1.98	1	monocarboxylic acid	antibacterial agent; astringent; metabolite; protic solvent; solvent
purine 1H-purine : The 1H-tautomer of purine.. 3H-purine : The 3H-tautomer of purine.. 9H-purine : The 9H-tautomer of purine.. 7H-purine : The 7H-tautomer of purine.	2.46	2	purine
succinic acid Succinic Acid: A water-soluble, colorless crystal with an acid taste that is used as a chemical intermediate, in medicine, the manufacture of lacquers, and to make perfume esters. It is also used in foods as a sequestrant, buffer, and a neutralizing agent. (Hawley's Condensed Chemical Dictionary, 12th ed, p1099; McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed, p1851). succinic acid : An alpha,omega-dicarboxylic acid resulting from the formal oxidation of each of the terminal methyl groups of butane to the corresponding carboxy group. It is an intermediate metabolite in the citric acid cycle.	2.06	1	alpha,omega-dicarboxylic acid; C4-dicarboxylic acid	anti-ulcer drug; fundamental metabolite; micronutrient; nutraceutical; radiation protective agent
uric acid Uric Acid: An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.. uric acid : An oxopurine that is the final oxidation product of purine metabolism.. 6-hydroxy-1H-purine-2,8(7H,9H)-dione : A tautomer of uric acid having oxo groups at C-2 and C-8 and a hydroxy group at C-6.. 7,9-dihydro-1H-purine-2,6,8(3H)-trione : An oxopurine in which the purine ring is substituted by oxo groups at positions 2, 6, and 8.	2.39	2	uric acid	Escherichia coli metabolite; human metabolite; mouse metabolite
urea pseudourea: clinical use; structure. isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.	2.21	1	isourea; monocarboxylic acid amide; one-carbon compound	Daphnia magna metabolite; Escherichia coli metabolite; fertilizer; flour treatment agent; human metabolite; mouse metabolite; Saccharomyces cerevisiae metabolite
potassium chloride Potassium Chloride: A white crystal or crystalline powder used in BUFFERS; FERTILIZERS; and EXPLOSIVES. It can be used to replenish ELECTROLYTES and restore WATER-ELECTROLYTE BALANCE in treating HYPOKALEMIA.. potassium chloride : A metal chloride salt with a K(+) counterion.	1.98	1	inorganic chloride; inorganic potassium salt; potassium salt	fertilizer
lysine Lysine: An essential amino acid. It is often added to animal feed.. lysine : A diamino acid that is caproic (hexanoic) acid bearing two amino substituents at positions 2 and 6.. L-lysine : An L-alpha-amino acid; the L-isomer of lysine.	2	1	aspartate family amino acid; L-alpha-amino acid zwitterion; L-alpha-amino acid; lysine; organic molecular entity; proteinogenic amino acid	algal metabolite; anticonvulsant; Escherichia coli metabolite; human metabolite; micronutrient; mouse metabolite; nutraceutical; plant metabolite; Saccharomyces cerevisiae metabolite
adenosine diphosphate Adenosine Diphosphate: Adenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.	2.1	1	adenosine 5'-phosphate; purine ribonucleoside 5'-diphosphate	fundamental metabolite; human metabolite
uridine [no description available]	2.21	1	uridines	drug metabolite; fundamental metabolite; human metabolite
adenosine monophosphate Adenosine Monophosphate: Adenine nucleotide containing one phosphate group esterified to the sugar moiety in the 2'-, 3'-, or 5'-position.	3.79	11	adenosine 5'-phosphate; purine ribonucleoside 5'-monophosphate	adenosine A1 receptor agonist; cofactor; EC 3.1.3.1 (alkaline phosphatase) inhibitor; EC 3.1.3.11 (fructose-bisphosphatase) inhibitor; fundamental metabolite; micronutrient; nutraceutical
asparagine Asparagine: A non-essential amino acid that is involved in the metabolic control of cell functions in nerve and brain tissue. It is biosynthesized from ASPARTIC ACID and AMMONIA by asparagine synthetase. (From Concise Encyclopedia Biochemistry and Molecular Biology, 3rd ed). asparagine : An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 2-amino-2-oxoethyl group.	2.01	1	amino acid zwitterion; asparagine; aspartate family amino acid; L-alpha-amino acid; proteinogenic amino acid	Escherichia coli metabolite; human metabolite; micronutrient; mouse metabolite; nutraceutical; plant metabolite; Saccharomyces cerevisiae metabolite
histidine Histidine: An essential amino acid that is required for the production of HISTAMINE.. L-histidine : The L-enantiomer of the amino acid histidine.. histidine : An alpha-amino acid that is propanoic acid bearing an amino substituent at position 2 and a 1H-imidazol-4-yl group at position 3.	2.44	2	amino acid zwitterion; histidine; L-alpha-amino acid; polar amino acid zwitterion; proteinogenic amino acid	algal metabolite; Escherichia coli metabolite; human metabolite; micronutrient; mouse metabolite; nutraceutical; Saccharomyces cerevisiae metabolite
threonine Threonine: An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins.. threonine : An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 1-hydroxyethyl group.	2.01	1	amino acid zwitterion; aspartate family amino acid; L-alpha-amino acid; proteinogenic amino acid; threonine	algal metabolite; Escherichia coli metabolite; human metabolite; micronutrient; mouse metabolite; nutraceutical; plant metabolite; Saccharomyces cerevisiae 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.	2.01	1	arginine; glutamine family amino acid; L-alpha-amino acid; proteinogenic amino acid	biomarker; Escherichia coli metabolite; micronutrient; mouse metabolite; nutraceutical
aminoimidazole carboxamide Aminoimidazole Carboxamide: An imidazole derivative which is a metabolite of the antineoplastic agents BIC and DIC. By itself, or as the ribonucleotide, it is used as a condensation agent in the preparation of nucleosides and nucleotides. Compounded with orotic acid, it is used to treat liver diseases.. 5-aminoimidazole-4-carboxamide : An aminoimidazole in which the amino group is at C-5 with a carboxamido group at C-4.	4.93	36	aminoimidazole; monocarboxylic acid amide	mouse metabolite
azomycin azomycin: RN given refers to parent cpd with specified locant; structure	1.98	1	C-nitro compound; imidazoles	antitubercular agent
n-(1-naphthyl)ethylenediamine N-(1-naphthyl)ethylenediamine : An N-substituted ethylenediamine compound having 1-naphthyl as the substituent.	1.96	1	N-substituted diamine
acadesine [no description available]	1.96	1	1-ribosylimidazolecarboxamide; aminoimidazole; nucleoside analogue	antineoplastic agent; platelet aggregation inhibitor
adenosine quinquefolan B: isolated from roots of Panax quinquefolium L.; RN not in Chemline 10/87; RN from Toxlit	3.51	8	adenosines; purines D-ribonucleoside	analgesic; anti-arrhythmia drug; fundamental metabolite; human metabolite; vasodilator agent
aica ribonucleotide AICA ribonucleotide: purine precursor that has antineoplastic activity. AICA ribonucleotide : A 1-(phosphoribosyl)imidazolecarboxamide that is acadesine in which the hydroxy group at the 5' position has been converted to its monophosphate derivative.	3.52	8	1-(phosphoribosyl)imidazolecarboxamide; aminoimidazole	cardiovascular drug; Escherichia coli metabolite; human metabolite; mouse metabolite; plant metabolite; Saccharomyces cerevisiae metabolite
2,8-dihydroxyadenine 2,8-dihydroxyadenine: xanthine oxidase reacted adenine metabolite in epidermis of hairless mice; component of urinary stores; structure. 2,8-dihydroxyadenine : A member of the class of 6-aminopurines that is adenine bearing two hydroxy substituents at positions 2 and 8. It is a highly insoluble metabolite of adenine that causes radiolucent urolithiasis. It is produced by individuals who suffer from adenine phosphoribosyltransferase (APRT) deficiency, a rare autosomal recessive error of purine metabolism.	2.21	1	6-aminopurines; diol; heteroaryl hydroxy compound; oxopurine	human urinary metabolite; mammalian metabolite; mouse metabolite; nephrotoxic agent
orotidine orotidine: RN given refers to parent cpd; structure. orotidine : A nucleoside formed by attaching orotic acid to a ribose ring via a beta-N(1)-glycosidic bond.	2.21	1	nucleoside; pyrimidinemonocarboxylic acid; uridines	bacterial metabolite; fungal metabolite; plant metabolite
beta-ureidoisobutyric acid beta-ureidoisobutyric acid: structure given in first source. 3-ureidoisobutyric acid : A ureidocarboxylic acid that is 2-methylpropanoic acid substituted by a carbamoylamino group at position 3.	2.21	1	ureidocarboxylic acid	human metabolite; mouse metabolite
aminoimidazole ribotide 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole : A 1-(phosphoribosyl)imidazole that is 5-aminoimidazole in which the proton at position 1 has been replaced by a 5-phospho-beta-D-ribofuranosyl group.	2.38	2	1-(phosphoribosyl)imidazole; aminoimidazole	bacterial metabolite
carboxyaminoimidazole ribotide carboxyaminoimidazole ribotide: reacts with alanosine to form antimetabolite; substrate for EC 4.1.1.21; structure in second source	2	1	1-(phosphoribosyl)imidazole; aminoimidazole; imidazole-4-carboxylic acid	Escherichia coli metabolite; mouse metabolite
5-formamidoimidazole-4-carboxamide ribotide 5-formamidoimidazole-4-carboxamide ribotide: purine precursor	1.97	1	1-(phosphoribosyl)imidazolecarboxamide	Escherichia coli metabolite; mouse metabolite
fumaric acid fumaric acid: see also record for ferrous fumarate; use FUMARATES for general fumaric acid esters. fumaric acid : A butenedioic acid in which the C=C double bond has E geometry. It is an intermediate metabolite in the citric acid cycle.	1.97	1	butenedioic acid	food acidity regulator; fundamental metabolite; geroprotector
adenylosuccinate aspartyl adenylate: RN given refers to (L)-isomer	3.37	7
D-fructopyranose [no description available]	1.98	1	cyclic hemiketal; D-fructose; fructopyranose	sweetening agent
fumarates Fumarates: Compounds based on fumaric acid.. fumarate(2-) : A C4-dicarboxylate that is the E-isomer of but-2-enedioate(2-)	1.97	1	butenedioate; C4-dicarboxylate	human metabolite; metabolite; Saccharomyces cerevisiae metabolite
succinyladenosine succinyladenosine: found in body fluids of children with severe psychomotor delay & autism; RN given refers to (L)-isomer. succinyladenosine : An aspartic acid derivative that is L-aspartic acid in which one of the amine hydrogens is substituted by a 9-beta-D-ribofuranosyl-9H-purin-6-yl group.	3.39	7	adenosines; amino dicarboxylic acid; L-aspartic acid derivative	metabolite
s-adenosylmethionine (R)-S-adenosyl-L-methionine : An S-adenosyl-L-methionine that has R-configuration.. S-adenosyl-L-methionine zwitterion : A zwitterionic tautomer of S-adenosyl-L-methionine arising from shift of the proton from the carboxy group to the amino group.. (R)-S-adenosyl-L-methionine zwitterion : An S-adenosyl-L-methionine zwitterion that has R-configuration; major species at pH 7.3.. (S)-S-adenosyl-L-methionine zwitterion : An S-adenosyl-L-methionine zwitterion that has S-configuration; major species at pH 7.3.. S-adenosyl-L-methionine : A sulfonium compound that is the S-adenosyl derivative of L-methionine. It is an intermediate in the metabolic pathway of methionine.	2.69	3	organic cation; sulfonium compound	coenzyme; cofactor; human metabolite; micronutrient; Mycoplasma genitalium metabolite; nutraceutical; Saccharomyces cerevisiae metabolite
hypoxanthine [no description available]	1.98	1	nucleobase analogue; oxopurine; purine nucleobase	fundamental metabolite
inosinic acid Inosine Monophosphate: Inosine 5'-Monophosphate. A purine nucleotide which has hypoxanthine as the base and one phosphate group esterified to the sugar moiety.	2.02	1	inosine phosphate; purine ribonucleoside 5'-monophosphate	Escherichia coli metabolite; human metabolite; mouse metabolite
folic acid folcysteine: used to promote fertility in chickens. vitamin B9 : Any B-vitamin that exhibits biological activity against vitamin B9 deficiency. Vitamin B9 refers to the many forms of folic acid and its derivatives, including tetrahydrofolic acid (the active form), methyltetrahydrofolate (the primary form found in blood), methenyltetrahydrofolate, folinic acid amongst others. They are present in abundance in green leafy vegetables, citrus fruits, and animal products. Lack of vitamin B9 leads to anemia, a condition in which the body cannot produce sufficient number of red blood cells. Symptoms of vitamin B9 deficiency include fatigue, muscle weakness, and pale skin.	2.02	1	folic acids; N-acyl-amino acid	human metabolite; mouse metabolite; nutrient

Condition	Relationship Strength	Studies
Purine Pyrimidine Metabolism, Inborn Errors [description not available]	3.96	13
Autism Spectrum Disorder Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (from DSM-V)	2.41	1
Autism [description not available]	2.96	4
Microcephaly A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)	2.41	1
Ciliopathies Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Primary features may include obesity, SKELETAL DYSPLASIA; POLYDACTYLY and malformations that primarily involve the liver, eye or kidneys.	2.41	1
Autistic Disorder A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)	2.96	4
Cancer of Prostate [description not available]	2.25	1
Prostatic Neoplasms Tumors or cancer of the PROSTATE.	2.25	1
Benign Neoplasms [description not available]	2.1	1
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.	2.1	1
Deficiency, Mental [description not available]	2.91	4
Happy Puppet Syndrome [description not available]	2.05	1
Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	2.91	4
Angelman Syndrome A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)	2.05	1
Inborn Errors of Metabolism [description not available]	2.06	1
Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	2.06	1
Choreoathetosis Self-Mutilation Hyperuricemia Syndrome [description not available]	1.99	1
Gout Metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of URIC ACID calculi.	1.99	1
Lesch-Nyhan Syndrome An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)	1.99	1
Death, Sudden The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions.	1.99	1
Aura [description not available]	1.99	1
Epilepsy A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)	1.99	1
Leukemia L 1210 [description not available]	1.97	1

saicar

Description

Cross-References

Synonyms (59)

Research Excerpts

Roles (2)

Drug Classes (1)

Pathways (28)

Research

Studies (36)

Market Indicators

Research Demand Index: 64.46

Study Types