Cytoscape Web
Click node...


3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Hereditary cerebral cavernous malformation
Tay-Sachs disease, B1 variant

CCM2 HEXA
KRIT1
PDCD10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PDCD10
(0.63)
HEXA



Citations in the biomedical literature:


Hereditary cerebral cavernous malformation
CCM2 KRIT1 PDCD10
Tay-Sachs disease, B1 variant
HEXA



Hereditary cerebral cavernous malformation
Tay-Sachs disease, B1 variant

Synonym(s):
- Familial brain cavernous angioma
- Familial brain cavernous hemangioma
- Familial cerebral cavernoma
- Familial cerebral cavernous malformation
- Hereditary brain cavernous angioma
- Hereditary brain cavernous hemangioma
- Hereditary cerebral cavernoma

Synonym(s):
- GM2-gangliosidosis, B1 variant
- Hexosaminidase A deficiency, B1 variant

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
3 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.