ODCs

Click node...

2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

1 OMIM reference -
1 associated gene
13 signs/symptoms

X-linked diffuse leiomyomatosis - Alport syndrome

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

COL4A5	(UniProt - OMIM)		APP	(UniProt - OMIM)
COL4A6	(UniProt - OMIM)


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		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Synonym(s): - Xq22.3 microdeletion syndrome		Synonym(s): - HCHWA, Piedmont 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, Piedmont type
	Very frequent - Autosomal dominant inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral / meningeal hemorrhage - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Psychic / psychomotor regression / dementia / intellectual decline - Sensitive trouble / deficit - Transient cerebral ischemia / stroke Frequent - Cerebral vascular anomalies - Facial pain / cephalalgia / migraine - Psychic / behavioural troubles Occasional - Early death / lethality
X-linked diffuse leiomyomatosis - Alport syndrome
(no data available)