Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Juvenile Huntington disease
HSD10 disease, atypical type

HTT HSD17B10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
(0.68)
HSD17B10



Citations in the biomedical literature:


Juvenile Huntington disease
HTT
HSD10 disease, atypical type
HSD17B10



Juvenile Huntington disease
HSD10 disease, atypical type

Synonym(s):
- JHD
- Juvenile Huntington chorea

Synonym(s):
- HSD10 deficiency, atypical type
- Syndromic X-linked intellectual disability type 10
- X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
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
External references:
1 OMIM reference -
No MeSH references

HSD10 disease, atypical type

Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Movement disorder
- Psychic / behavioural troubles
- X-linked recessive inheritance



Juvenile Huntington disease

(no data available)