Congenital disorder of glycosylation, type ia

Preferred Label : Congenital disorder of glycosylation, type ia;

Symbol : CDG1A;

CISMeF acronym : CDG1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Carbohydrate-deficient glycoprotein syndrome, type ia; CDGIa; Cdg ia; Jaeken syndrome; Phosphomannomutase 2 deficiency;

Description : Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., CDG2A, 212066) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. CDG1A is the most common form of CDG and was the first to be characterized at the molecular level (reviews by Marquardt and Denecke, 2003; Grunewald et al., 2002). Matthijs et al. (1997) noted that Jaeken syndrome (CDG1A) is a genetic multisystem disorder characterized by defective glycosylation of glycoconjugates. It usually presents as a severe disorder in the neonatal period. There is a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. There is a 20% lethality in the first year of life due to severe infections, liver insufficiency, or cardiomyopathy. - Genetic Heterogeneity of Congenital Disorder of Glycosylation Type I Multiple forms of CDG type I have been identified; see CDG1B (602579) through CDG1X (615597).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphomannomutase 2 gene (PMM2, 601785.0001);

Laboratory abnormalities : Abnormal isoelectric focusing of serum transferrin (type 1 pattern); Abnormal serum glycoproteins; Elevated transaminases; Proteinuria; Decreased copper, iron, zinc; Hypocholesterolemia; Hypoalbuminemia; Phosphomannomutase deficiency in leukocytes, fibroblasts, or liver;

Prefixed ID : #212065;

Details

Origin ID

212065;

UMLS CUI

C0349653;

Automatic exact mappings (from CISMeF team)
- phosphomannomutase 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital Disorder of Glycosylation Type Ia [NCIt concept]
- Congenital disorder of glycosylation type 1A [MeSH concept]
- Congenital disorder of glycosylation type Ia (disorder) [SNOMED CT concept]
- Deficiency of phosphomannomutase 2 (disorder) [SNOMED CT concept]
- PMM2-CDG [ORDO Disease]
- Phosphomannomutase 2 deficiency [ICD-11 More detail]
- congenital disorder of glycosylation type 1A [MeSH Supplementary Concept]
- congenital disorder of glycosylation type IA [Disease (Nov.)]
DO Cross reference
- congenital disorder of glycosylation Ia [DO Concept]
Genes related to phenotype
- Phosphomannomutase 2 [OMIM gene]
HPO term(s)
- Abnormal subcutaneous fat tissue distribution [HPO term]
- Abnormality of the amniotic fluid [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Depressed nasal bridge [HPO term]
- Diarrhea [HPO term]
- Elevated hepatic transaminase [HPO term]
- Esotropia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypoalbuminemia [HPO term]
- Hypocholesterolemia [HPO term]
- Hyporeflexia [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Inverted nipples [HPO term]
- Kyphosis [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Muscle weakness [HPO term]
- Nephrotic syndrome [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Nystagmus [HPO term]
- Olivopontocerebellar hypoplasia [HPO term]
- Osteopenia [HPO term]
- Pericardial effusion [HPO term]
- Polyneuropathy [HPO term]
- Premature ovarian insufficiency [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Prolonged prothrombin time [HPO term]
- Prominent forehead [HPO term]
- Proteinuria [HPO term]
- Proximal tubulopathy [HPO term]
- Psychomotor retardation [HPO term]
- Reduced antithrombin III activity [HPO term]
- Reduced factor XI activity [HPO term]
- Renal cyst [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Stroke-like episode [HPO term]
- Thin upper lip vermilion [HPO term]
- Thrombocytosis [HPO term]
- Type I transferrin isoform profile [HPO term]
- Vomiting [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- PMM2-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbohydrate-deficient glycoprotein syndrome type I (disorder) [SNOMED CT concept]
- Congenital Disorder of Glycosylation Type Ia [NCIt concept]
- Congenital disorder of glycosylation type 1A [MeSH concept]
- Congenital disorder of glycosylation type Ia (disorder) [SNOMED CT concept]
- PMM2-CDG [ORDO Disease]
- congenital disorder of glycosylation type 1A [MeSH Supplementary Concept]
- congenital disorder of glycosylation type IA [Disease (Nov.)]
Validated automatic mappings to NTBT
- Carbohydrate-deficient glycoprotein syndrome type I (disorder) [SNOMED CT concept]

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