KEGG DISEASE: Chromosome Xp21 deletion syndrome

KEGG

DISEASE: Chromosome Xp21 deletion syndrome

Entry

H00552                      Disease

Name

Chromosome Xp21 deletion syndrome

Subgroup

Glycerol kinase deficiency (GKD) [DS:H02013]
X-linked Addison disease (AHX) [DS:H01598]
Duchenne muscular dystrophy (DMD) [DS:H01963]

Description

Chromosome Xp21 deletion syndrome is an X-linked recessive defect characterized biochemically by hyperglycerolemia and glyceroluria. This disease is an Xp21 contiguous gene syndrome involving the glycerol kinase locus together with X-linked Addison disease (AHX) or Duchenne muscular dystrophy (DMD) loci or both.

Category

Chromosomal abnormality

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   Sex chromosome anomalies
    LD51  Structural anomalies of chromosome X, excluding Turner syndrome
     H00552  Chromosome Xp21 deletion syndrome

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT

Title

Isolated and contiguous glycerol kinase gene disorders: a review.

Journal

J Inherit Metab Dis 23:529-47 (2000)
DOI:10.1023/A:1005660826652

Reference

Authors

Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE

Title

A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.

Journal

Clin Chem 52:1864-70 (2006)
DOI:10.1373/clinchem.2006.072397

Reference

Authors

Rahib L, MacLennan NK, Horvath S, Liao JC, Dipple KM

Title

Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.

Journal

Eur J Hum Genet 15:646-57 (2007)
DOI:10.1038/sj.ejhg.5201801

Reference

Authors

Ropers HH, Hamel BC

Title

X-linked mental retardation.

Journal

Nat Rev Genet 6:46-57 (2005)
DOI:10.1038/nrg1501

LinkDB

» Japanese version

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