ODCs

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

PROTEIN INTERACTIONS: 2

1 OMIM reference -
3 associated genes
No signs/symptoms info

Familial porencephaly

Proximal spinal muscular atrophy type 2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL4A2 COL4A2	(0.63) (0.63)	SMN1 SMN2

Citations in the biomedical literature:

Familial porencephaly		Proximal spinal muscular atrophy type 2
	Synonym(s): (no synonyms)		Synonym(s): - Chronic infantile spinal muscular atrophy - Chronic spinal muscular atrophy - Intermediate spinal muscular atrophy - SMA-II - SMA2

	Classification (Orphanet): - 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: C536850		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.