Congenital disorder of glycosylation, type im

Preferred Label : Congenital disorder of glycosylation, type im;

Symbol : CDG1M;

CISMeF acronym : CDG1M;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dk1 deficiency; Cdg im; Dolichol kinase deficiency; CDGIm;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 15 gene (TMEM15, 610746.0001);

Laboratory abnormalities : Decreased lipid-linked oligosaccharides (LLO); Increased disialo- and asialotransferrin; Abnormal transferrin isoelectric focusing (IEF);

Prefixed ID : #610768;

Détails

Origin ID

610768;

UMLS CUI

C1835849;

Automatic exact mappings (from CISMeF team)
- 2'-CDg [MeSH concept]
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]
- congenital disorder of glycosylation, type in [MeSH concept]
- congenital disorder of glycosylation, type in [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Carbohydrate deficient glycoprotein syndrome type 1m (disorder) [SNOMED CT concept]
- DK1-CDG [ORDO Disease]
- Dolichol kinase deficiency [ICD-11 More detail]
- congenital disorder of glycosylation Im [DO Concept]
- congenital disorder of glycosylation, type im [MeSH concept]
- congenital disorder of glycosylation, type im [MeSH Supplementary Concept]
- dolichol kinase deficiency [Disease (Nov.)]
DO Cross reference
- congenital disorder of glycosylation Im [DO Concept]
Genes related to phenotype
- Dolichol kinase [OMIM gene]
HPO term(s)
- Abnormal isoelectric focusing of serum transferrin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- Dilated cardiomyopathy [HPO term]
- Failure to thrive [HPO term]
- Hypoketotic hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Microcephaly, acquired [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- DK1-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbohydrate deficient glycoprotein syndrome type 1m (disorder) [SNOMED CT concept]
- DK1-CDG [ORDO Disease]
- congenital disorder of glycosylation, type im [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type im [MeSH concept]

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

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