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Chromosome Xp21 deletion syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Complex Glycerol Kinase Deficiency
Monarch Initiative: MONDO:0010399
OMIM®: 300679
Orphanet: ORPHA261476


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). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome Xp21 deletion syndrome
Follow this link to review classifications for Chromosome Xp21 deletion syndrome in Orphanet.

Professional guidelines


Friedenberg SG, Lunn KF, Meurs KM
Mamm Genome 2017 Feb;28(1-2):56-65. Epub 2016 Nov 18 doi: 10.1007/s00335-016-9671-6. PMID: 27864587Free PMC Article
Proc R Soc Med 1953 Jul;46(7):566-71; discussion, 577-8. PMID: 13074224
Proc R Soc Med 1953 Jul;46(7):565-6; discussion, 577-8. PMID: 13074223Free PMC Article

Recent clinical studies


Sadeghmousavi S, Shahkarami S, Rayzan E, Ahmed S, Gharalari FH, Rohlfs M, Klein C, Rezaei N
Endocr Metab Immune Disord Drug Targets 2022;22(8):881-887. doi: 10.2174/1871530322666220201143656. PMID: 35105298

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