Congenital disorder of glycosylation, type ie

Preferred Label : Congenital disorder of glycosylation, type ie;

Symbol : CDG1E;

CISMeF acronym : CDG1E;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIe; Cdg ie;

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 catalytic subunit of the dolichyl-phosphate mannosyltransferase 1 gene (DPM1, 603503.0001);

Laboratory abnormalities : Abnormal isoelectric focusing of serum transferrin (type I pattern); Decreased tetrasialotransferrin levels; Increased disialotransferrin and asialotransferrin levels; Increased liver function tests; Increased serum creatine kinase;

Prefixed ID : #608799;

Détails

Origin ID

608799;

UMLS CUI

C1837396;

Automatic exact mappings (from CISMeF team)
- 2'-CDg [MeSH concept]
- 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]
- dolichyl-phosphate mannosyltransferase subunit 1, catalytic [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital Disorder of Glycosylation Type Ie [NCIt concept]
- Congenital disorder of glycosylation type 1E [MeSH concept]
- Congenital disorder of glycosylation type 1e (disorder) [SNOMED CT concept]
- DPM1-CDG [ORDO Disease]
- Dolichol-phosphate-mannose synthase 1 deficiency [ICD-11 More detail]
- congenital disorder of glycosylation type 1E [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation Ie [DO Concept]
Genes related to phenotype
- Dolichyl-phosphate mannosyltransferase 1, catalytic subunit [OMIM gene]
HPO term(s)
- Abnormal macular morphology [HPO term]
- Ankle flexion contracture [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Cerebral visual impairment [HPO term]
- Cortical blindness [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- EEG abnormality [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Flat occiput [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemangioma [HPO term]
- Hepatomegaly [HPO term]
- High, narrow palate [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Increased liver function tests [HPO term]
- Infantile onset [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Lower limb hyperreflexia [HPO term]
- Microcephaly, acquired [HPO term]
- Micrognathia [HPO term]
- Muscular dystrophy [HPO term]
- Nail dysplasia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Patent ductus arteriosus [HPO term]
- Pontocerebellar atrophy [HPO term]
- Progressive [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Reduced antithrombin III activity [HPO term]
- Reduced protein C activity [HPO term]
- Reduced protein S activity [HPO term]
- Respiratory distress [HPO term]
- Retinopathy [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Short palm [HPO term]
- Small hand [HPO term]
- Smooth philtrum [HPO term]
- Splenomegaly [HPO term]
- Strabismus [HPO term]
- Telangiectasia [HPO term]
- Tremor [HPO term]
- Type I transferrin isoform profile [HPO term]
- Upper limb undergrowth [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- DPM1-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Disorder of Glycosylation Type Ie [NCIt concept]
- Congenital disorder of glycosylation type 1E [MeSH concept]
- Congenital disorder of glycosylation type 1e (disorder) [SNOMED CT concept]
- DPM1-CDG [ORDO Disease]
- congenital disorder of glycosylation type 1E [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- congenital disorder of glycosylation [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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