Details of Disease

General Information of Disease (ID: DISG1OAZ)

Disease Name Spondylometaphyseal dysplasia, Schmidt type
Synonyms
spondylometaphyseal dysplasia Schmidt type; spondylometaphyseal dysplasia Algerian type; Schmid metaphyseal dysostosis; spondylometaphyseal dysplasia, Schmidt type; spondylometaphyseal dysplasia, Algerian type; spondylometaphyseal dysplasia with severe genu valgum
Definition
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.
Disease Hierarchy
DISDTAJK: Spondylometaphyseal dysplasia
DIS8WIDY: Type 2 collagenopathy
DISG1OAZ: Spondylometaphyseal dysplasia, Schmidt type
Disease Identifiers
MONDO ID
MONDO_0008478
MESH ID
C535794
UMLS CUI
C1866688
OMIM ID
184253
MedGen ID
356595
Orphanet ID
93316
SNOMED CT ID
719304005

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 Supportive Autosomal dominant [1]
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References

1 COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type. Mol Syndromol. 2013 Mar;4(3):148-51. doi: 10.1159/000346644. Epub 2013 Jan 30.