Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
3 signs/symptoms
X-linked diffuse leiomyomatosis - Alport syndrome
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

COL4A5 APP
COL4A6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A6
COL4A5
(0.7)
(0.52)
APP
APP



Citations in the biomedical literature:


X-linked diffuse leiomyomatosis - Alport syndrome
COL4A5 COL4A6
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP



X-linked diffuse leiomyomatosis - Alport syndrome
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Synonym(s):
- Xq22.3 microdeletion syndrome

Synonym(s):
- HCHWA, Arctic type

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
Epidemiological data:
(no data available)

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

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



X-linked diffuse leiomyomatosis - Alport syndrome

(no data available)