Congenital disorder of glycosylation, type iie

Preferred Label : Congenital disorder of glycosylation, type iie;

Symbol : CDG2E;

CISMeF acronym : CDG2E;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIIe; Cdg iie;

Description : CDG IIe is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. For a general discussion of CDGs, see CDG1A (212065).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the component of oligomeric Golgi complex 7 gene (COG7, 606978.0001);

Laboratory abnormalities : Defect in both O- and N-glycosylation; Abnormal glycosylation of serum transferrin, type 2 pattern; Increased serum creatine kinase; Abnormal liver enzymes;

Prefixed ID : #608779;

Details

Origin ID

608779;

UMLS CUI

C2931010;

Currated CISMeF NLP mapping
- COG7-CDG [ORDO Disease]
- Component of conserved oligomeric Golgi complex 7 deficiency [ICD-11 More detail]
- Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 2E [MeSH concept]
- congenital disorder of glycosylation type 2E [MeSH Supplementary Concept]
- congenital disorder of glycosylation type IIe [Disease (Nov.)]
- congenital disorder of glycosylation type IIe [DO Concept]
DO Cross reference
- congenital disorder of glycosylation type IIe [DO Concept]
Genes related to phenotype
- Component of oligomeric golgi complex 7 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Abnormality of the skeletal system [HPO term]
- Adducted thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Congestive heart failure [HPO term]
- Decreased liver function [HPO term]
- Delayed myelination [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Flat forehead [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- Hydronephrosis [HPO term]
- Hypertrichosis [HPO term]
- Hypoglycemia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Intrauterine growth retardation [HPO term]
- Inverted nipples [HPO term]
- Jaundice [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Narrow forehead [HPO term]
- Narrow mouth [HPO term]
- Neurogenic bladder [HPO term]
- Overlapping fingers [HPO term]
- Profound global developmental delay [HPO term]
- Progressive microcephaly [HPO term]
- Protruding tongue [HPO term]
- Respiratory insufficiency [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Smooth philtrum [HPO term]
- Splenomegaly [HPO term]
- Thick vermilion border [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- COG7-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- COG7-CDG [ORDO Disease]
- Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 2E [MeSH concept]
- congenital disorder of glycosylation type 2E [MeSH Supplementary Concept]
- congenital disorder of glycosylation type IIe [Disease (Nov.)]
- congenital disorder of glycosylation type IIe [DO Concept]

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