Congenital disorder of glycosylation, type id

Preferred Label : Congenital disorder of glycosylation, type id;

Symbol : CDG1D;

CISMeF acronym : CDGS4; CDG1D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGId; Carbohydrate-deficient glycoprotein syndrome, type iv; Cdg id; Cdgs, type iv; CDGS4;

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. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the S. cerevisiae ALG3 gene (ALG3, 608750.0001);

Laboratory abnormalities : Abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin); Hypoglycosylation of plasma glycoproteins; Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase deficiency;

Prefixed ID : #601110;

Details

Origin ID

601110;

UMLS CUI

C1832736;

Automatic exact mappings (from CISMeF team)
- 2'-CDg [MeSH concept]
- ALG3 alpha-1,3- mannosyltransferase [ORDO Gene]
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]
- congenital disorder of glycosylation, type im [MeSH concept]
- congenital disorder of glycosylation, type im [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type in [MeSH concept]
- congenital disorder of glycosylation, type in [MeSH Supplementary Concept]
CISMeF manual mappings
- Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- ALG3-CDG [ORDO Disease]
- Congenital Disorder of Glycosylation Type Id [NCIt concept]
- Congenital disorder of glycosylation type 1D [MeSH concept]
- congenital disorder of glycosylation type 1D [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation Id [DO Concept]
Genes related to phenotype
- Alg3 alpha-1,3-mannosyltransferase [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Bulbous nose [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Clinodactyly [HPO term]
- Clinodactyly of the 5th toe [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Depressed nasal bridge [HPO term]
- Diarrhea [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Flat, broad nasal bridge [HPO term]
- Flexion contracture [HPO term]
- Food intolerance [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypsarrhythmia [HPO term]
- Iris coloboma [HPO term]
- Joint contracture of the hand [HPO term]
- Long fingers [HPO term]
- Long, hyperextensible fingers [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Nail dysplasia [HPO term]
- Optic atrophy [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Severely reduced visual acuity [HPO term]
- Small nail [HPO term]
- Small, dysplastic nails [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Type I transferrin isoform profile [HPO term]
- Villous atrophy [HPO term]
- Vomiting [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- ALG3-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG3-CDG [ORDO Disease]
- Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital Disorder of Glycosylation Type Id [NCIt concept]
- Congenital disorder of glycosylation type 1D [MeSH concept]
- congenital disorder of glycosylation type 1D [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- congenital disorder of glycosylation [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients