Chromosome xp21 deletion syndrome

Preferred Label : Chromosome xp21 deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Complex glycerol kinase deficiency;

Description : Infantile or complex glycerol kinase deficiency is a contiguous gene syndrome caused by microdeletion of GK (300474) and its neighboring genes, dystrophin (300377), which causes Duchenne muscular dystrophy (DMD; 310200), and NR0B1 (300473), which causes congenital adrenal hypoplasia (AHC; 300200). Patients present with hyperglycerolemia and glyceroluria, associated with DMD and/or AHC (summary by Stanczak et al., 2007).;

Prefixed ID : #300679;

Details

Origin ID

300679;

UMLS CUI

C4505291;

Automatic exact mappings (from CISMeF team)
- Complex Glycerol Kinase Deficiency [MeSH concept]
Currated CISMeF NLP mapping
- Xp21 deletion [ICD-11 More detail]
- Xp21 deletion syndrome [ORDO Disease]
- chromosome Xp21 deletion syndrome [DO Concept]
DO Cross reference
- chromosome Xp21 deletion syndrome [DO Concept]
ORDO concept(s)
- Xp21 deletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xp21 deletion [ICD-11 More detail]
- Xp21 deletion syndrome [ORDO Disease]
- chromosome Xp21 deletion syndrome [DO Concept]

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