Details of Disease | DrugMAP

General Information of Disease (ID: DISNRAF6)

Disease Name	Spondyloepimetaphyseal dysplasia, Strudwick type
Synonyms	SMED Strudwick type; SMED type 1; SmD; spondyloepimetaphyseal dysplasia Strudwick type; SEMDSTWK; spondylometaepiphyseal dysplasia congenita, Strudwick type; Strudwick syndrome; SEMD, Strudwick type; Semdc; dappled metaphysis syndrome; Smed, type 1; spondyloepimetaphyseal dysplasia congenita, Strudwick type; Smed, Strudwick type; spondylometaphyseal dysplasia; spondyloepimetaphyseal dysplasia, Strudwick type
Definition	A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
Disease Hierarchy	DISDTAJK: Spondylometaphyseal dysplasia DIS8WIDY: Type 2 collagenopathy DISO4L5A: Spondyloepimetaphyseal dysplasia DISNRAF6: Spondyloepimetaphyseal dysplasia, Strudwick type
Disease Identifiers	MONDO ID MONDO_0008476 MESH ID C537501 UMLS CUI C0700635 OMIM ID 184250 MedGen ID 147134 Orphanet ID 93346 SNOMED CT ID 702350003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FN1	TTPJ921	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PCYT1A	DEQYXD4	moderate	Genetic Variation	[2]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL10A1	OTC4G2YC	moderate	Genetic Variation	[3]
LBR	OT1HG3HG	Strong	Biomarker	[4]
TONSL	OTBWODM9	Strong	Genetic Variation	[5]
COL2A1	OT5E59C8	Definitive	Autosomal dominant	[6]
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References

1	Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".Bone. 2019 Apr;121:163-171. doi: 10.1016/j.bone.2018.12.020. Epub 2018 Dec 30.
2	Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. Eur J Hum Genet. 2017 May;25(5):651-655. doi: 10.1038/ejhg.2017.23. Epub 2017 Mar 8.
3	A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report.Medicine (Baltimore). 2019 Jul;98(30):e16485. doi: 10.1097/MD.0000000000016485.
4	A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.Am J Med Genet A. 2019 Feb;179(2):306-311. doi: 10.1002/ajmg.a.61000. Epub 2018 Dec 18.
5	Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.
6	Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. Am J Med Genet A. 2005 Sep 1;137A(3):292-7. doi: 10.1002/ajmg.a.30881.