| H00552 | |
| H number | H00552 |
| Name | Chromosome Xp21 deletion syndrome |
| 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 |
| Network | - |
| Gene | - |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD51 ICD-10: Q99.8 OMIM: 300679 |
| Reference | PMID:11032329 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 PMID:16887896 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 PMID:17406644 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 PMID:15630421 AUTHORS Ropers HH, Hamel BC TITLE X-linked mental retardation. JOURNAL Nat Rev Genet 6:46-57 (2005) DOI:10.1038/nrg1501 |