ODCs

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

PROTEIN INTERACTIONS: 1

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

Familial isolated congenital asplenia

Congenital muscular dystrophy type 1A

NKX2-5	(UniProt - OMIM)		LAMA2	(UniProt - OMIM)
RPSA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RPSA	(0.52)	LAMA2

Citations in the biomedical literature:

Familial isolated congenital asplenia		Congenital muscular dystrophy type 1A
	Synonym(s): (no synonyms)		Synonym(s): - CMD1A - Congenital muscular dystrophy due to laminin alpha2 deficiency - MDC1A - Merosin-negative congenital muscular dystrophy

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

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

No signs/symptoms info available.