Details of Disease

General Information of Disease (ID: DIS4A87B)

Disease Name SHOX-related short stature
Synonyms ISS; short stature, idiopathic, X-linked; short stature, idiopathic familial
Definition
SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DIS4A87B: SHOX-related short stature
Disease Identifiers
MONDO ID
MONDO_0010367
UMLS CUI
C1845118
OMIM ID
300582
MedGen ID
375584
Orphanet ID
314795

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GHR TTHJWYD Strong Genetic Variation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SHOX OTE0YZJO Supportive Autosomal dominant [2]
KLHL17 OTUWIJIQ moderate Genetic Variation [3]
ARX OTBGYH25 Strong Genetic Variation [4]
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References

1 Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature.J Cell Mol Med. 2017 Nov;21(11):2985-2999. doi: 10.1111/jcmm.13210. Epub 2017 May 29.
2 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
3 Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.Eur J Hum Genet. 2011 Dec;19(12):1238-45. doi: 10.1038/ejhg.2011.121. Epub 2011 Jun 22.
4 Two new familial severe infantile spasm syndromes in males.Epilepsy Behav. 2009 Apr;14(4):696-700. doi: 10.1016/j.yebeh.2009.02.011. Epub 2009 Feb 20.