ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Recurrent infections associated with rare immunoglobulin isotypes deficiency

Congenital atransferrinemia

IGHG2	(UniProt - OMIM)		TF	(UniProt - OMIM)
IGKC	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IGKC	(0.63)	TF

Citations in the biomedical literature:

Recurrent infections associated with rare immunoglobulin isotypes deficiency		Congenital atransferrinemia
	Synonym(s): - IgG subclass deficiency with IgA subclass deficiency - Isolated IgG subclass deficiency - Kappa-chain deficiency - Selective IgG subclass deficiency		Synonym(s): - Congenital hypotransferrinemia

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: unknown		Epidemiological data: Class of prevalence: <1 / 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: 1 OMIM reference - 1 MeSH reference: C538259

Congenital atransferrinemia
	Very frequent - Anaemia - Autosomal recessive inheritance Frequent - Immunodeficiency / increased susceptibility to infections / recurrent infections - Storage liver disease Occasional - Arthritis / synovitis / synovial proliferation - Hypothyroidy - Structural anomalies of the cardio-circulatory system - Structural anomalies of the pancreas
Recurrent infections associated with rare immunoglobulin isotypes deficiency
(no data available)