Congenital disorder of glycosylation, type ig

Preferred Label : Congenital disorder of glycosylation, type ig;

Symbol : CDG1G;

CISMeF acronym : CDG1G;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIg; Cdg ig;

Description : Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. For a general discussion of CDGs, see CDG1A (212065) and CDG1B (602579).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-1,6-mannosyltransferase gene (ALG12, 607144.0001);

Laboratory abnormalities : Abnormal glycosylation of transferrin, type 1 pattern;

Prefixed ID : #607143;

Details

Origin ID

607143;

UMLS CUI

C2931001;

Currated CISMeF NLP mapping
- ALG12-CDG [ORDO Disease]
- ALG12-congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital Disorder of Glycosylation Type Ig [NCIt concept]
- Congenital disorder of glycosylation type 1G [MeSH concept]
- Mannosyltransferase 8 deficiency [ICD-11 More detail]
- congenital disorder of glycosylation Ig [DO Concept]
- congenital disorder of glycosylation type 1G [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation Ig [DO Concept]
Genes related to phenotype
- Alg12 alpha-1,6-mannosyltransferase [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the pinna [HPO term]
- Autosomal recessive inheritance [HPO term]
- Butterfly vertebrae [HPO term]
- Cryptorchidism [HPO term]
- Decreased circulating antibody level [HPO term]
- Edema [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypocalcemia [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inverted nipples [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Polyhydramnios [HPO term]
- Progressive microcephaly [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Psychomotor retardation [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory tract infection [HPO term]
- Retinal detachment [HPO term]
- Rhizomelia [HPO term]
- Sandal gap [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short femur [HPO term]
- Short humerus [HPO term]
- Short philtrum [HPO term]
- Short ribs [HPO term]
- Short tibia [HPO term]
- Small for gestational age [HPO term]
- Small scrotum [HPO term]
- Talipes equinovarus [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- ALG12-CDG [ORDO Disease]
See also inter- (CISMeF)
- ALG12 alpha-1,6-mannosyltransferase [ORDO Gene]
- ALG12 alpha-1,6-mannosyltransferase [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG12-CDG [ORDO Disease]
- ALG12-congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital Disorder of Glycosylation Type Ig [NCIt concept]
- Congenital disorder of glycosylation type 1G [MeSH concept]
- congenital disorder of glycosylation type 1G [MeSH Supplementary Concept]

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