Details of Disease | DrugMAP

General Information of Disease (ID: DIS890QB)

Disease Name	Multiple epiphyseal dysplasia type 4
Synonyms	multiple epiphyseal dysplasia with double-layered patella; multiple epiphyseal dysplasia with clubfoot; epiphyseal dysplasia, multiple, 4; epiphyseal dysplasia multiple 4; multiple epiphyseal dysplasia 4; multiple epiphyseal dysplasia with Bilayered patellae; multiple epiphyseal dysplasia, autosomal recessive; SLC26A2 multiple epiphyseal dysplasia (disease); EDM4; epiphyseal dysplasia, multiple, type 4; Recessive Multiple Epiphyseal Dysplasia; rMED; Polyepiphyseal dysplasia type 4; multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2; MED4; autosomal recessive multiple epiphyseal dysplasia
Definition	Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
Disease Hierarchy	DISO5FAY: Inborn error of metabolism DISV96AT: Mineral metabolism disease DIS5FZLR: Multiple epiphyseal dysplasia DIS890QB: Multiple epiphyseal dysplasia type 4
Disease Identifiers	MONDO ID MONDO_0009189 MESH ID C535504 UMLS CUI C1847593 OMIM ID 226900 MedGen ID 376164 Orphanet ID 93307 SNOMED CT ID 715672007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC26A2	DTFSLX5	Limited	Genetic Variation	[1]
SLC26A2	DTFSLX5	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC26A2	OTJNHNTO	Definitive	Autosomal recessive	[2]
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References

1	Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.BMC Med Genet. 2018 May 3;19(1):70. doi: 10.1186/s12881-018-0596-7.
2	Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Am J Med Genet A. 2003 Oct 15;122A(3):187-92. doi: 10.1002/ajmg.a.20282.