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HSD10 disease, atypical type
1 OMIM reference -
1 associated gene
24 connected diseases
4 signs/symptoms
Disease Type of connection
HSD10 disease, infantile 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):
- HSD10 deficiency, atypical type
- Syndromic X-linked intellectual disability type 10
- X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HSD17B10 Q99714300256
Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Movement disorder
- Psychic / behavioural troubles
- X-linked recessive inheritance