ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
1 associated gene
14 signs/symptoms

Familial isolated congenital asplenia

Hereditary thrombophilia due to congenital protein S deficiency

NKX2-5	(UniProt - OMIM)		PROS1	(UniProt - OMIM)
RPSA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RPSA	(0.63)	PROS1

Citations in the biomedical literature:

Familial isolated congenital asplenia		Hereditary thrombophilia due to congenital protein S deficiency

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease		Classification (Orphanet): (no data available)

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: - Type of inheritance: autosomal recessive

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

Hereditary thrombophilia due to congenital protein S deficiency
	Very frequent - Autosomal dominant inheritance - Purpura / petichiae Frequent - Anomalies of skin, subcutaneous tissue and mucosae - Retinopathy - Skin hypoplasia / aplasia / atrophy - Thin skin - Venous thrombosis / phlebitis / thrombophlebitis Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Arterial embolism / thrombosis - Cerebral vascular anomalies - Chronic skin infection / ulcerations / ulcers / cancrum - Gangrena / necrosis - Pulmonary thromboembolism - Varices / varicous veins / venous insufficiency
Familial isolated congenital asplenia
(no data available)