Details of Disease

General Information of Disease (ID: DIS3O60H)

Disease Name X-linked spondyloepimetaphyseal dysplasia
Synonyms
SEMDX; SEMD, X-linked; spondyloepimetaphyseal dysplasia X-linked; spondylo-epimetaphyseal dysplasia; SEMD X-linked; spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive; spondyloepimetaphyseal dysplasia, X-linked
Definition X-linked form of spondyloepimetaphyseal dysplasia.
Disease Hierarchy
DIS1JG9A: Spondyloepiphyseal dysplasia
DIS3O60H: X-linked spondyloepimetaphyseal dysplasia
Disease Identifiers
MONDO ID
MONDO_0010248
MESH ID
C564714
UMLS CUI
C1848097
OMIM ID
300106
MedGen ID
376281
Orphanet ID
93349
SNOMED CT ID
770603000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BGN TT0JPVF Limited Biomarker [1]
BGN TT0JPVF Strong X-linked [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IARS2 OTDX4SCA moderate Biomarker [3]
BGN OT3AV6IF Strong X-linked [2]
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References

1 Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. Genet Med. 2017 Apr;19(4):386-395. doi: 10.1038/gim.2016.126. Epub 2016 Sep 15.
2 Biglycan deficiency causes spontaneous aortic dissection and rupture in mice. Circulation. 2007 May 29;115(21):2731-8. doi: 10.1161/CIRCULATIONAHA.106.653980. Epub 2007 May 14.
3 Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.Am J Med Genet A. 2017 Apr;173(4):1102-1108. doi: 10.1002/ajmg.a.38116.