Details of Disease

General Information of Disease (ID: DISM93ZC)

Disease Name Ehlers-Danlos syndrome, spondylodysplastic type, 2
Synonyms
Ehlers-Danlos syndrome, progeroid type, 2, formerly; spEDS-B3GALT6; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; EDSP2; Ehlers-Danlos syndrome, spondylodysplastic type, 2; Ehlers-Danlos syndrome, progeroid type, 2; EDSSPD2; Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6; B3GALT6 Ehlers-Danlos syndrome progeroid type; B3GALT6-related spondylodysplastic EDS; Beta3GalT6-deficient EDS
Definition Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.
Disease Hierarchy
DISFYHM7: Ehlers-Danlos syndrome, spondylodysplastic type
DISM93ZC: Ehlers-Danlos syndrome, spondylodysplastic type, 2
Disease Identifiers
MONDO ID
MONDO_0014139
UMLS CUI
C3809210
OMIM ID
615349
MedGen ID
815540
Orphanet ID
536467
SNOMED CT ID
1251499005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
B3GALT6 OTF4HBAT Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.