Details of Disease | DrugMAP

General Information of Disease (ID: DISZ16X4)

Disease Name	Metaphyseal chondrodysplasia, Spahr type
Synonyms	MDST; Spahr type metaphyseal chondrodysplasia; metaphyseal chondrodysplasia Spahr type; metaphyseal dysplasia, Spahr type; metaphyseal chondrodysplasia, Spahr type
Disease Hierarchy	DIS9SPWW: Osteochondrodysplasia DIS5Z8U6: Skeletal dysplasia DISZ16X4: Metaphyseal chondrodysplasia, Spahr type
Disease Identifiers	MONDO ID MONDO_0009597 MESH ID C537353 UMLS CUI C0432225 OMIM ID 250400 MedGen ID 140928 Orphanet ID 2501 SNOMED CT ID 254084008

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
MMP13	TTHY57M	Strong	Autosomal recessive	[1]
MMP13	TTHY57M	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MMP13	OTY8BZIE	Strong	Autosomal recessive	[1]
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References

1	Critical roles for collagenase-3 (Mmp13) in development of growth plate cartilage and in endochondral ossification. Proc Natl Acad Sci U S A. 2004 Dec 7;101(49):17192-7. doi: 10.1073/pnas.0407788101. Epub 2004 Nov 24.
2	Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.Eur J Hum Genet. 2015 Feb;23(2):264-6. doi: 10.1038/ejhg.2014.76. Epub 2014 Apr 30.