ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
5 signs/symptoms

Hereditary cerebral cavernous malformation

Autosomal dominant congenital benign spinal muscular atrophy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRIT1	(0.49)	TRPV4

Citations in the biomedical literature:

Hereditary cerebral cavernous malformation		Autosomal dominant congenital benign spinal muscular atrophy
	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): - Autosomal dominant benign distal spinal muscular atrophy - Congenital benign spinal muscular atrophy with contractures - Congenital nonprogressive spinal muscular atrophy

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: 1 OMIM reference - No MeSH references

Autosomal dominant congenital benign spinal muscular atrophy
	Very frequent - Autosomal recessive inheritance - Hypotonia - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Restricted joint mobility / joint stiffness / ankylosis - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
Hereditary cerebral cavernous malformation
(no data available)