Congenital Disorder of Glycosylation, Type Icc (CDG1CC)

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Disease Ontology 12 DOID:0111839 OMIM 56 301031 OMIM Phenotypic Series 56 PS212065

MeSH 43 D018981 MedGen 41 CN262278 UMLS 71 CN262278

UniProtKB/Swiss-Prot : ⁷³ Congenital disorder of glycosylation 1CC: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1CC is an X-linked recessive form mainly characterized by intellectual and developmental disability.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Icc, is also known as cdg1cc. An important gene associated with Congenital Disorder of Glycosylation, Type Icc is MAGT1 (Magnesium Transporter 1).

Disease Ontology : ¹² A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has material basis in hemizygous mutation in MAGT1 on chromosome Xq21.1.

More information from OMIM: 301031 PS212065

Clinical features from OMIM:

301031

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Icc

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Icc.