Details of Disease

General Information of Disease (ID: DISX2EGR)

Disease Name Schmid metaphyseal chondrodysplasia
Synonyms
metaphyseal chondrodysplasia, Schmid type; Metaphyseal Chondrodysplasia, Schmid Type; Japanese type spondylometaphyseal dysplasia; MCDS; metaphyseal chondrodysplasia Schmid type; spondylometaphyseal dysplasia, Japanese type; Schmid type metaphyseal dysplasia
Definition Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS9SPWW: Osteochondrodysplasia
DIS5Z8U6: Skeletal dysplasia
DISX2EGR: Schmid metaphyseal chondrodysplasia
Disease Identifiers
MONDO ID
MONDO_0007983
MESH ID
C537352
UMLS CUI
C0265289
OMIM ID
156500
MedGen ID
78550
Orphanet ID
174
SNOMED CT ID
29248006

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
MANF TT56RYE Strong Altered Expression [1]
MLYCD TT9Z4YD Strong Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RNASEH1 OTT7L25X Strong Genetic Variation [3]
COL10A1 OTC4G2YC Definitive Autosomal dominant [4]
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References

1 Mesencephalic astrocyte-derived neurotropic factor is an important factor in chondrocyte ER homeostasis.Cell Stress Chaperones. 2019 Jan;24(1):159-173. doi: 10.1007/s12192-018-0953-7. Epub 2018 Dec 12.
2 Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.Eur J Med Genet. 2015 Mar;58(3):175-9. doi: 10.1016/j.ejmg.2014.12.011. Epub 2014 Dec 24.
3 Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.J Med Genet. 2003 Oct;40(10):741-6. doi: 10.1136/jmg.40.10.741.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.