" /> Immunodeficiency 47 - CISMeF





Preferred Label : Immunodeficiency 47;

Symbol : IMD47;

CISMeF acronym : IMD47;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency and hepatopathy with or without neurologic features; Congenital disorder of glycosylation, type iis; CDG2S; Cdg iis; CDGIIs;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ATPase, H transporting, lysosomal, accessory protein 1 gene (ATP6AP1, 300197.0001);

Laboratory abnormalities : Defective N- and O-glycosylation of serum proteins; High alkaline phosphatase; Low serum ceruloplasmin; Abnormal liver enzymes; Low serum copper;

Prefixed ID : #300972;

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30/07/2025


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