Congenital disorder of glycosylation, type iil

Preferred Label : Congenital disorder of glycosylation, type iil;

Symbol : CDG2L;

CISMeF acronym : CDG2L;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg iil; CDGIIl;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the component of oligomeric Golgi complex 6 gene (COG6, 606977.0001);

Laboratory abnormalities : Abnormal isoelectric focusing of serum transferrin (type 2 pattern); Abnormal liver enzymes;

Prefixed ID : #614576;

Details

Origin ID

614576;

UMLS CUI

C3553230;

Currated CISMeF NLP mapping
- COG6-CGD [ORDO Disease]
- Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIl [DO Concept]
DO Cross reference
- congenital disorder of glycosylation type IIl [DO Concept]
Genes related to phenotype
- Component of oligomeric golgi complex 6 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal cortical gyration [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cholestasis [HPO term]
- Chronic diarrhea [HPO term]
- Cirrhosis [HPO term]
- Congenital onset [HPO term]
- Death in infancy [HPO term]
- Decreased specific anti-polysaccharide antibody level [HPO term]
- Dry skin [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated gamma-glutamyltransferase level [HPO term]
- Elevated hepatic transaminase [HPO term]
- Enamel hypoplasia [HPO term]
- Epicanthus [HPO term]
- Esophageal varix [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- Hip dysplasia [HPO term]
- Hydrocephalus [HPO term]
- Hyperechogenic kidneys [HPO term]
- Hyperkeratosis [HPO term]
- Hypohidrosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Impaired T cell function [HPO term]
- Inflammation of the large intestine [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Optic atrophy [HPO term]
- Pancytopenia [HPO term]
- Patent ductus arteriosus [HPO term]
- Peau d'orange [HPO term]
- Postaxial polydactyly [HPO term]
- Proximal tubulopathy [HPO term]
- Recurrent infections [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Type II transferrin isoform profile [HPO term]
- Unilateral renal agenesis [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- COG6-CGD [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) [SNOMED CT concept]

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