Details of Disease | DrugMAP

General Information of Disease (ID: DISUTWXH)

Disease Name	Spondyloepimetaphyseal dysplasia, Missouri type
Synonyms	SEMD Missouri type; metaphyseal anadysplasia 1; Missouri type of spondyloepimetaphyseal dysplasia; spondyloepimetaphyseal dysplasia Missouri type; SEMD, Missouri type; spondyloepimetaphyseal dysplasia, Missouri type; SEMD type 2; spondyloepimetaphyseal dysplasia type 2
Definition	A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
Disease Hierarchy	DISO4L5A: Spondyloepimetaphyseal dysplasia DISUTWXH: Spondyloepimetaphyseal dysplasia, Missouri type
Disease Identifiers	MONDO ID MONDO_0011198 MESH ID C566574 UMLS CUI C1865832 OMIM ID 602111 MedGen ID 355563 Orphanet ID 93356 SNOMED CT ID 719171005

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	Limited	Biomarker	[1]
MMP13	TTHY57M	Definitive	Autosomal dominant	[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	Definitive	Autosomal dominant	[2]
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References

1	MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19.
2	Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature. Medicine (Baltimore). 1993 Sep;72(5):326-42.