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Details of HSD17B10 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| HSD17B10 | ERAB | HADH2 | MRPP2 | SCHAD | HCD2_HUMAN | 3028 | 1F67 1SO8 1U7T 2O23 | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]: A disorder that leads to neurological abnormalities | in virtually all patients | Mental retardation | syndromic | Mental retardation | while syndromic mental retardation presents with associated physical | ||||
Phenotypes
"Abnormal aggressive, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal emotion/affect behavior, Abnormal glucose homeostasis, Abnormal muscle tone, Abnormality of acid-base homeostasis, Abnormality of blood glucose concentration, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of central motor function, Abnormality of eye movement, Abnormality of finger, Abnormality of higher mental function, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of the central nervous system, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the ear, Abnormality of the eye, Abnormality of the foot, Abnormality of the fundus, Abnormality of the hand, Abnormality of the inner ear, Abnormality of the lower limb, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the posterior segment of the eye, Abnormality of the retina, Abnormality of the skeletal system, Abnormality of the upper limb, Abnormality of the vertebral column, Abnormality of toe, Acidosis, Age of onset, Aggressive behavior, Agitation, All, Arachnodactyly, Behavioural/Psychiatric Abnormality, Broad-based gait, Chorea, Choreoathetosis, Cognitive impairment, Diminished movement, Dysarthria, Functional abnormality of the inner ear, Gait disturbance, Global developmental delay, Gonosomal inheritance, Hallucinations, Hearing abnormality, Hearing impairment, Hyperlordosis, Hyperreflexia, Hypertonia, Hypoglycemia, Hypokinesia, Infantile axial hypotonia, Infantile muscular hypotonia, Infantile onset, Intellectual disability, Involuntary movements, Lactic acidosis, Long fingers, Long toe, Lumbar hyperlordosis, Mental deterioration, Metabolic acidosis, Mode of inheritance, Motor delay, Muscular hypotonia, Muscular hypotonia of the trunk, Neurological speech impairment, Nystagmus, Onset, Onset and clinical course, Phenotypic abnormality, Progressive neurologic deterioration, Psychosis, Restlessness, Retinal degeneration, Seizures, Sensorineural hearing impairment, Slender finger, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||