Details of Disease | DrugMAP

General Information of Disease (ID: DISLC4FL)

Disease Name	Dyggve-Melchior-Clausen disease
Synonyms	DMC syndrome; DMC; pseudo-Morquio disease type I; Dyggve Melchior Clausen syndrome; DMC disease; Dyggve-Melchior-Clausen syndrome; Dyggve-Melchior-Clausen disease
Definition	Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS1JG9A: Spondyloepiphyseal dysplasia DISLC4FL: Dyggve-Melchior-Clausen disease
Disease Identifiers	MONDO ID MONDO_0009130 MESH ID C535726 UMLS CUI C0265286 OMIM ID 223800 MedGen ID 120527 Orphanet ID 239 SNOMED CT ID 82699004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CXCL17	OTRCEVIZ	Strong	Genetic Variation	[1]
DYM	OTQ670WI	Definitive	Autosomal recessive	[2]
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References

1	Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.Am J Med Genet A. 2017 Mar;173(3):588-595. doi: 10.1002/ajmg.a.38064. Epub 2017 Jan 27.
2	Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Am J Hum Genet. 2003 Feb;72(2):419-28. doi: 10.1086/346176. Epub 2002 Dec 16.