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HSD10 disease, infantile type
1 associated gene
24 connected diseases
No signs/symptoms info
Disease Type of connection
HSD10 disease, atypical type
HSD10 disease, neonatal type
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Young adult-onset Parkinsonism
Huntington disease
Juvenile Huntington disease
46,XY partial gonadal dysgenesis
Anophthalmia / microphthalmia - esophageal atresia
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Cabezas syndrome
Colobomatous microphthalmia
Dedifferentiated liposarcoma
Fibronectin glomerulopathy
Isolated anophthalmia - microphthalmia
Pseudohypoaldosteronism type 2E
Septo-optic dysplasia
Well-differentiated liposarcoma
Multiple sulfatase deficiency
Synonym(s):
- 2-methyl-3-hydroxybutyric aciduria, classic type
- 2-methyl-3-hydroxybutyric aciduria, infantile type
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
- HSD10 deficiency, classic type
- HSD10 deficiency, infantile type
- HSD10 disease, classic type
- MHBD deficiency, classic type
- MHBD deficiency, infantile type
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
HSD17B10 Q99714300256
No signs/symptoms info available.