ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Hereditary cerebral cavernous malformation

Spondyloepiphyseal dysplasia, Maroteaux type


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

Citations in the biomedical literature:

Hereditary cerebral cavernous malformation		Spondyloepiphyseal dysplasia, Maroteaux type
	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): - Pseudo-Morquio syndrome type 2

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.