Congenital disorder of glycosylation, type in

Preferred Label : Congenital disorder of glycosylation, type in;

Symbol : CDG1N;

CISMeF acronym : CDG1N;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg in; CDGIn;

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 RFT1 homolog gene (RFT1, 611908.0001);

Laboratory abnormalities : Type I pattern of serum sialotransferrins; Accumulation of the incomplete oligosaccharide Man(5)GlcNAc(2)-PP-dolichol;

Prefixed ID : #612015;

Details

Origin ID

612015;

UMLS CUI

C2677590;

Automatic exact mappings (from CISMeF team)
- 2'-CDg [MeSH concept]
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]
- Carbohydrate-deficient glycoprotein syndrome (disorder) [SNOMED CT concept]
- Congenital Disorder of Glycosylation Type If [NCIt concept]
- Congenital disorder of glycosylation [ORDO Disease]
- Congenital disorder of glycosylation type 1s (disorder) [SNOMED CT concept]
- MPDU1-CDG [ORDO Disease]
- PGM1-CDG [ORDO Disease]
- RFT1 homolog [ORDO Gene]
- RFT1 homolog [HGNC gene]
- congenital disorder of glycosylation type 1F [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type im [MeSH concept]
- congenital disorder of glycosylation, type im [MeSH Supplementary Concept]
- phosphomannomutase 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1n (disorder) [SNOMED CT concept]
- RFT1-CDG [ORDO Disease]
- congenital disorder of glycosylation In [DO Concept]
- congenital disorder of glycosylation, type in [MeSH concept]
- congenital disorder of glycosylation, type in [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation In [DO Concept]
Genes related to phenotype
- Rft1 homolog [OMIM gene]
HPO term(s)
- Abnormal isoelectric focusing of serum transferrin [HPO term]
- Abnormality of the coagulation cascade [HPO term]
- Adducted thumb [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Inverted nipples [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Myoclonus [HPO term]
- Pes valgus [HPO term]
- Reduced visual acuity [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- RFT1-CDG [ORDO Disease]
See also inter- (CISMeF)
- ALG13-CDG [ORDO Disease]
- Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1n (disorder) [SNOMED CT concept]
- RFT1-CDG [ORDO Disease]
- congenital disorder of glycosylation, type in [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type in [MeSH concept]

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