Congenital disorder of glycosylation, type if

Preferred Label : Congenital disorder of glycosylation, type if;

Symbol : CDG1F;

CISMeF acronym : CDG1F;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIf; Cdg if;

Description : Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mannose-P-dolichol utilization defect 1 gene (MPDU1, 604041.0001);

Laboratory abnormalities : Type 1 hypoglycosylation pattern of serum transferrin; Accumulation of truncated oligosaccharides Man(5)GlcNAc2 and Man(9)GlcNAc(2);

Prefixed ID : #609180;

Details

Origin ID

609180;

UMLS CUI

C1836669;

Automatic exact mappings (from CISMeF team)
- 2'-CDg [MeSH concept]
- ALG13-CDG [ORDO Disease]
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]
- Carbohydrate-deficient glycoprotein syndrome (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation [ORDO Disease]
- Congenital disorder of glycosylation type 1s (disorder) [SNOMED CT concept]
- PGM1-CDG [ORDO Disease]
- RFT1-CDG [ORDO Disease]
- 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]
- mannose-P-dolichol utilization defect 1 [ORDO Gene]
- phosphomannomutase 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital Disorder of Glycosylation Type If [NCIt concept]
- Congenital disorder of glycosylation type 1F [MeSH concept]
- Congenital disorder of glycosylation type 1f (disorder) [SNOMED CT concept]
- MPDU1-CDG [ORDO Disease]
- congenital disorder of glycosylation type 1F [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation If [DO Concept]
Genes related to phenotype
- Mannose-p-dolichol utilization defect 1 [OMIM gene]
HPO term(s)
- Abnormality of the coagulation cascade [HPO term]
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Dry skin [HPO term]
- Erythroderma [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperkeratosis [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Scaling skin [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- MPDU1-CDG [ORDO Disease]
See also inter- (CISMeF)
- Congenital disorder of glycosylation type 1n (disorder) [SNOMED CT concept]
- 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 If [NCIt concept]
- Congenital disorder of glycosylation type 1F [MeSH concept]
- Congenital disorder of glycosylation type 1f (disorder) [SNOMED CT concept]
- MPDU1-CDG [ORDO Disease]
- congenital disorder of glycosylation type 1F [MeSH Supplementary Concept]

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