Condition | Indicated | Relationship Strength | Studies | Trials |
Carbohydrate-Deficient Glycoprotein Syndrome [description not available] | 0 | 2.66 | 2 | 0 |
Disease Models, Animal Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases. | 0 | 4.18 | 6 | 0 |
Astrocytosis [description not available] | 0 | 2.31 | 1 | 0 |
Innate Inflammatory Response [description not available] | 0 | 2.31 | 1 | 0 |
Inflammation A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function. | 0 | 2.31 | 1 | 0 |
Congenital Disorders of Glycosylation A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation. | 0 | 2.66 | 2 | 0 |
Lysosomal Enzyme Disorders [description not available] | 0 | 7.07 | 31 | 0 |
AGA Deficiency [description not available] | 0 | 7.5 | 49 | 0 |
Disease Exacerbation [description not available] | 0 | 3.62 | 3 | 0 |
alpha-Galactosidase A Deficiency [description not available] | 0 | 3.59 | 3 | 0 |
Macroglossia The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) | 0 | 3.31 | 2 | 0 |
Genetic Skin Diseases [description not available] | 0 | 2.92 | 1 | 0 |
Fabry Disease An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. | 0 | 3.59 | 3 | 0 |
Lysosomal Enzyme Disorders, Nervous System [description not available] | 0 | 2.02 | 1 | 0 |
Ambulation Disorders, Neurologic [description not available] | 0 | 2.02 | 1 | 0 |
Aura [description not available] | 0 | 2.02 | 1 | 0 |
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) | 0 | 2.02 | 1 | 0 |
Muscle Contraction A process leading to shortening and/or development of tension in muscle tissue. Muscle contraction occurs by a sliding filament mechanism whereby actin filaments slide inward among the myosin filaments. | 0 | 2.02 | 1 | 0 |
Amino Acid Metabolism Disorders, Inborn [description not available] | 0 | 3.37 | 7 | 0 |
Deficiency, Mental [description not available] | 0 | 3.92 | 13 | 0 |
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) | 0 | 3.92 | 13 | 0 |
Amentia [description not available] | 0 | 2.02 | 1 | 0 |
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.) | 0 | 2.02 | 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 | 2.02 | 1 | 0 |
Inborn Errors of Metabolism [description not available] | 0 | 5.23 | 12 | 0 |
Long Sleeper Syndrome [description not available] | 0 | 2.03 | 1 | 0 |
Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. | 0 | 5.23 | 12 | 0 |
Sleep Wake Disorders Abnormal sleep-wake schedule or pattern associated with the CIRCADIAN RHYTHM which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. | 0 | 2.03 | 1 | 0 |
Carbohydrate Metabolism, Inborn Error [description not available] | 0 | 4.27 | 4 | 0 |
Mucopolysaccharidosis [description not available] | 0 | 2.88 | 1 | 0 |
Mucopolysaccharidoses Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. | 0 | 2.88 | 1 | 0 |
Ganglioside Storage Diseases [description not available] | 0 | 3.76 | 2 | 0 |
Cherry Red Spot Myoclonus Syndrome [description not available] | 0 | 3.97 | 5 | 0 |
Gangliosidoses A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. | 0 | 3.76 | 2 | 0 |
Connective Tissue Diseases A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides. | 0 | 1.96 | 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 | 3.36 | 7 | 0 |
Methemoglobinemia The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed) | 0 | 1.96 | 1 | 0 |
Glycogenosis [description not available] | 0 | 1.96 | 1 | 0 |
Glycogen Storage Disease A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. | 0 | 1.96 | 1 | 0 |
Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. | 0 | 2.37 | 2 | 0 |
Alcohol Related Neurodevelopmental Disorder [description not available] | 0 | 1.98 | 1 | 0 |
Asphyxia Neonatorum Respiratory failure in the newborn. (Dorland, 27th ed) | 0 | 1.98 | 1 | 0 |
Brain Hemorrhage, Cerebral [description not available] | 0 | 1.98 | 1 | 0 |
47,XX,+21 [description not available] | 0 | 1.98 | 1 | 0 |
Embryopathies [description not available] | 0 | 1.98 | 1 | 0 |
Fra(X) Syndrome [description not available] | 0 | 1.98 | 1 | 0 |
Fasting Hypoglycemia HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast. | 0 | 1.98 | 1 | 0 |
Infection [description not available] | 0 | 1.98 | 1 | 0 |
Cerebral Hemorrhage Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA. | 0 | 1.98 | 1 | 0 |
Down Syndrome A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) | 0 | 1.98 | 1 | 0 |
Fragile X Syndrome A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) | 0 | 1.98 | 1 | 0 |
Hypoglycemia A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH. | 0 | 1.98 | 1 | 0 |
Infections Invasion of the host organism by microorganisms or their toxins or by parasites that can cause pathological conditions or diseases. | 0 | 1.98 | 1 | 0 |
Acid beta-Glucosidase Deficiency [description not available] | 0 | 2.9 | 1 | 0 |
ARSA Deficiency [description not available] | 0 | 2.9 | 1 | 0 |
Adult GM1 Gangliosidosis [description not available] | 0 | 2.9 | 1 | 0 |
Gaucher Disease An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. | 0 | 2.9 | 1 | 0 |
Leukodystrophy, Metachromatic An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms. | 0 | 2.9 | 1 | 0 |
Gangliosidosis, GM1 An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7) | 0 | 2.9 | 1 | 0 |
Abnormalities, Autosome [description not available] | 0 | 1.98 | 1 | 0 |
Abdominal Epilepsy [description not available] | 0 | 1.98 | 1 | 0 |
Autosomal Chromosome Disorders [description not available] | 0 | 1.98 | 1 | 0 |
Epilepsies, Partial Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317) | 0 | 1.98 | 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 | 2.39 | 2 | 0 |
Fibromatosis [description not available] | 0 | 2 | 1 | 0 |
Cancer of Skin [description not available] | 0 | 2.39 | 2 | 0 |
Angiofibroma A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed) | 0 | 2 | 1 | 0 |
Facial Neoplasms New abnormal growth of tissue in the FACE. | 0 | 2 | 1 | 0 |
Fibroma A benign tumor of fibrous or fully developed connective tissue. | 0 | 2 | 1 | 0 |
Skin Neoplasms Tumors or cancer of the SKIN. | 0 | 2.39 | 2 | 0 |
Genetic Diseases [description not available] | 0 | 1.99 | 1 | 0 |
Genetic Diseases, Inborn Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. | 0 | 1.99 | 1 | 0 |
Enlarged Liver [description not available] | 0 | 1.98 | 1 | 0 |
Enlarged Spleen [description not available] | 0 | 1.98 | 1 | 0 |
Behavior Disorders [description not available] | 0 | 1.98 | 1 | 0 |
Mental Disorders Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. | 0 | 1.98 | 1 | 0 |
Chromosome Deletion Actual loss of portion of a chromosome. | 0 | 2.38 | 2 | 0 |
Benign Infantile Myoclonic Epilepsy [description not available] | 0 | 1.97 | 1 | 0 |
Angiokeratoma A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis. | 0 | 1.97 | 1 | 0 |
Epilepsies, Myoclonic A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic. | 0 | 1.97 | 1 | 0 |
Glycosuria The appearance of an abnormally large amount of GLUCOSE in the urine, such as more than 500 mg/day in adults. It can be due to HYPERGLYCEMIA or genetic defects in renal reabsorption (RENAL GLYCOSURIA). | 0 | 2.38 | 2 | 0 |
Abnormalities, Teeth [description not available] | 0 | 1.97 | 1 | 0 |
alpha Mannosidase B Deficiency [description not available] | 0 | 1.97 | 1 | 0 |
alpha-Mannosidosis An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. | 0 | 1.97 | 1 | 0 |
Diseases in Twins Disorders affecting TWINS, one or both, at any age. | 0 | 1.97 | 1 | 0 |
Gonadal Agenesis The complete failure of gonadal development. | 0 | 1.97 | 1 | 0 |
Spondylisthesis [description not available] | 0 | 1.97 | 1 | 0 |
Spondylolysis Deficient development or degeneration of a portion of the VERTEBRA, usually in the pars interarticularis (the bone bridge between the superior and inferior facet joints of the LUMBAR VERTEBRAE) leading to SPONDYLOLISTHESIS. | 0 | 1.97 | 1 | 0 |
Alpha-Fucosidase Deficiency [description not available] | 0 | 1.96 | 1 | 0 |
Fucosidosis An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31) | 0 | 1.96 | 1 | 0 |