Details of Disease

General Information of Disease (ID: DISAXS3D)

Disease Name Spondyloperipheral dysplasia
Synonyms spondyloperipheral dysplasia with short ulna; spondyloperipheral dysplasia; spondyloperipheral dysplasia-short ulna syndrome
Definition
A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.
Disease Hierarchy
DIS8WIDY: Type 2 collagenopathy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISAXS3D: Spondyloperipheral dysplasia
Disease Identifiers
MONDO ID
MONDO_0010078
MESH ID
C535799
UMLS CUI
C0796173
OMIM ID
271700
MedGen ID
163223
Orphanet ID
1856
SNOMED CT ID
702339001

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
COL2A1 OT5E59C8 Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.