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Leukocyte adhesion deficiency type II

Synonyms
CDG 2C; CDG IIc; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; Congenital disorder of glycosylation type 2C; Leukocyte adhesion deficiency type 2; Rambam Hasharon syndrome; SLC35C1-CDG (CDG-IIc)
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066). Frydman (1996) contended that the neutrophil defect in CDG2C, which has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), is a manifestation of the disorder and that there are no cases of 'primary' LAD II. Etzioni and Harlan (1999) provided a comprehensive review of both leukocyte adhesion deficiency-1 (LAD1; 116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1. For a discussion of genetic heterogeneity of LAD, see 116920. [from OMIM]

Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG2C, FUCT1, SLC35C1
    Summary: solute carrier family 35 member C1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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