KEGG   DISEASE: SHOX-related short stature
Entry
H00492                      Disease                                
Name
SHOX-related short stature
  Subgroup
Isolated short stature
Langer mesomelic dysplasia
Leri-Weill dyschondrosteosis
Description
Isolated short stature, Leri-Weill and Langer syndromes are conditions with growth retardation. Patients also exhibit mesomelic shortening in Leri-Weill and Langer syndromes. These conditions are due to mutations in SHOX gene within the pseudoautosomal regions of sex chromosomes.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00492  SHOX-related short stature
Gene
SHOX [HSA:6473] [KO:K09331]
Other DBs
ICD-11: LD24.A
MeSH: C564479 C537267 C537119
OMIM: 300582 249700 127300
Reference
PMID:16650979
  Authors
Blaschke RJ, Rappold G
  Title
The pseudoautosomal regions, SHOX and disease.
  Journal
Curr Opin Genet Dev 16:233-9 (2006)
DOI:10.1016/j.gde.2006.04.004
Reference
PMID:16807223
  Authors
Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E
  Title
Short stature and dysmorphology associated with defects in the SHOX gene.
  Journal
Hormones (Athens) 5:107-18 (2006)
DOI:10.14310/horm.2002.11174
Reference
PMID:11408757
  Authors
Blaschke RJ, Rappold GA
  Title
SHOX in short stature syndromes.
  Journal
Horm Res 55 Suppl 1:21-3 (2001)
DOI:10.1159/000063458
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