ODCs

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

PROTEIN INTERACTIONS: 1

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

Craniofacial-ulnar-renal syndrome

Immunodeficiency due to MASP-2 deficiency

COLEC11	(UniProt - OMIM)		MASP2	(UniProt - OMIM)
MASP1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MASP1	(0.72)	MASP2

Citations in the biomedical literature:

Craniofacial-ulnar-renal syndrome		Immunodeficiency due to MASP-2 deficiency
	Synonym(s): - 3MC syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

No signs/symptoms info available.