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Familial isolated congenital asplenia

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

PROTEIN INTERACTIONS: 1

Syndactyly type 3

1 OMIM reference -
1 associated gene
4 signs/symptoms

Familial isolated congenital asplenia

Syndactyly type 3

NKX2-5	(UniProt - OMIM)		GJA1	(UniProt - OMIM)
RPSA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RPSA	(0.63)	GJA1

Citations in the biomedical literature:

Familial isolated congenital asplenia		Syndactyly type 3
	Synonym(s): (no synonyms)		Synonym(s): - SD3 - Syndactyly of fingers 4 and 5

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538154

Syndactyly type 3
	Very frequent - Autosomal dominant inheritance - Syndactyly of fingers / interdigital palm Frequent - Camptodactyly of some fingers Occasional - Short foot / brachydactyly of toes
Familial isolated congenital asplenia
(no data available)