Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
HSD10 disease, neonatal type

APP HSD17B10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.9)
HSD17B10



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
HSD10 disease, neonatal type
HSD17B10



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
HSD10 disease, neonatal type

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- 2-methyl-3-hydroxybutyric aciduria, neonatal type
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
- HSD10 deficiency, neonatal type
- MHBD deficiency, neonatal type

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

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



HSD10 disease, neonatal type

(no data available)