Details of Disease

General Information of Disease (ID: DISK6FWF)

Disease Name Brachyolmia
Synonyms brachyrachia
Definition
Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.
Disease Hierarchy
DISZ8ZFO: Spondylodysplastic dysplasia
DIS9SPWW: Osteochondrodysplasia
DISK6FWF: Brachyolmia
Disease Identifiers
MONDO ID
MONDO_0015262
MESH ID
C537098
UMLS CUI
C0432228
MedGen ID
96584
Orphanet ID
1293
SNOMED CT ID
254088006

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
TRPV4 TTKP2SU moderate Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LTBP3 OTME98V7 Strong Biomarker [2]
PAPSS2 OTDLEXPN Strong Biomarker [3]
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References

1 TRPV4 expresses in bone cell lineages and TRPV4-R616Q mutant causing Brachyolmia in human reveals "loss-of-interaction" with cholesterol.Biochem Biophys Res Commun. 2019 Oct 1;517(4):566-574. doi: 10.1016/j.bbrc.2019.07.042. Epub 2019 Aug 3.
2 Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. Hum Mol Genet. 2015 Jun 1;24(11):3038-49. doi: 10.1093/hmg/ddv053. Epub 2015 Feb 10.
3 PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.Am J Med Genet A. 2019 Sep;179(9):1884-1894. doi: 10.1002/ajmg.a.61282. Epub 2019 Jul 16.