Congenital disorder of glycosylation, type iia

Preferred Label : Congenital disorder of glycosylation, type iia;

Symbol : CDG2A;

CISMeF acronym : CDG IIA; CDGS2; CDG2A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, growth retardation, prominent columella, and open mouth; Cdg iia; Carbohydrate-deficient glycoprotein syndrome, type II; CDGIIa; Alkuraya syndrome; CDGS2;

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 (see, e.g., CDG1A, 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. The biochemical changes of CDGs are most readily observed in serum transferrin (TF; 190000), and the diagnosis is usually made by isoelectric focusing of this glycoprotein (reviews by Marquardt and Denecke, 2003; Grunewald et al., 2002). - Genetic Heterogeneity of Congenital Disorder of Glycosylation Type II Multiple forms of CDG type II have been identified; see CDG2B (606056) through CDG2M (300896).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase gene (MGAT2, 602616.0001);

Laboratory abnormalities : GlcNAc-transferase II deficiency in fibroblast and mononuclear cells; Abnormal isoelectric focusing of serum transferrin (type 2 pattern);

Prefixed ID : #212066;

Details

Origin ID

212066;

UMLS CUI

C2931008;

Currated CISMeF NLP mapping
- Carbohydrate deficient glycoprotein syndrome type 2a (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 2A [MeSH concept]
- MGAT2-CDG [ORDO Disease]
- congenital disorder of glycosylation type 2A [MeSH Supplementary Concept]
- congenital disorder of glycosylation type IIa [Disease (Nov.)]
- congenital disorder of glycosylation type IIa [DO Concept]
DO Cross reference
- congenital disorder of glycosylation type IIa [DO Concept]
False automatic mappings
- bis(glutathionato)cadmium [MeSH Supplementary Concept]
Genes related to phenotype
- Alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase [OMIM gene]
HPO term(s)
- Abnormal isoelectric focusing of serum transferrin [HPO term]
- Abnormal rib cage morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Coxa valga [HPO term]
- Decreased coagulation factors IX, XI, XII [HPO term]
- Diastema [HPO term]
- Downslanted palpebral fissures [HPO term]
- Everted lower lip vermilion [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Gingival overgrowth [HPO term]
- Hirsutism [HPO term]
- Hypertonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Large, dysplastic ears [HPO term]
- Long eyelashes [HPO term]
- Low hanging columella [HPO term]
- Macrocephaly [HPO term]
- Macrodontia [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Midfrontal capillary hemangioma [HPO term]
- Open mouth [HPO term]
- Osteopenia [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent nasal bridge [HPO term]
- Protruding tongue [HPO term]
- Proximal placement of thumb [HPO term]
- Reduced antithrombin III activity [HPO term]
- Reduced factor IX activity [HPO term]
- Reduced factor XI activity [HPO term]
- Reduced factor XII activity [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Slender long bone [HPO term]
- Sparse hair [HPO term]
- Thick eyebrow [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Thoracolumbar kyphoscoliosis [HPO term]
- Type II transferrin isoform profile [HPO term]
- Unsteady gait [HPO term]
- Ventricular septal defect [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- MGAT2-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbohydrate deficient glycoprotein syndrome type 2a (disorder) [SNOMED CT concept]
- Carbohydrate-deficient glycoprotein syndrome type II (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 2A [MeSH concept]
- MGAT2-CDG [ORDO Disease]
- congenital disorder of glycosylation type 2A [MeSH Supplementary Concept]
- congenital disorder of glycosylation type IIa [Disease (Nov.)]
- congenital disorder of glycosylation type IIa [DO Concept]
Validated automatic mappings to NTBT
- Carbohydrate-deficient glycoprotein syndrome type II (disorder) [SNOMED CT concept]

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