" /> Congenital disorder of glycosylation, type im - CISMeF





Preferred Label : Congenital disorder of glycosylation, type im;

Symbol : CDG1M;

CISMeF acronym : CDG1M;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dk1 deficiency; Cdg im; Dolichol kinase deficiency; CDGIm;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 15 gene (TMEM15, 610746.0001);

Laboratory abnormalities : Decreased lipid-linked oligosaccharides (LLO); Increased disialo- and asialotransferrin; Abnormal transferrin isoelectric focusing (IEF);

Prefixed ID : #610768;

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03/05/2025


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