Details of Disease

General Information of Disease (ID: DISYSX3W)

Disease Name Ehlers-Danlos syndrome, spondylocheirodysplastic type
Synonyms spondylocheirodysplasia, Ehlers-Danlos syndrome-like; EDSSPD3; SCD-EDS; Ehlers-Danlos syndrome, spondylodysplastic type, 3; EDS, spondylocheirodysplastic type
Definition
Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.
Disease Hierarchy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISFYHM7: Ehlers-Danlos syndrome, spondylodysplastic type
DISYSX3W: Ehlers-Danlos syndrome, spondylocheirodysplastic type
Disease Identifiers
MONDO ID
MONDO_0012873
MESH ID
C567340
UMLS CUI
C2676510
OMIM ID
612350
MedGen ID
393515
Orphanet ID
157965
SNOMED CT ID
773276004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC39A13 DTOTKBS Limited Biomarker [1]
SLC39A13 DTOTKBS Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC39A13 OTF36U59 Definitive Autosomal recessive [2]
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References

1 The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550.
2 The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5.