Details of Disease

General Information of Disease (ID: DISHPNVX)

Disease Name	Dysplasia
Synonyms	dysostosis
Disease Class	LB30-LD2F: Dysplasia
Definition	A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.
Disease Hierarchy	DISVKAZS: Bone development disease DISHPNVX: Dysplasia
ICD Code	ICD-11 ICD-11: LB30-LD2F ICD-10 ICD-10: C92.A2
Disease Identifiers	MONDO ID MONDO_0018234 MESH ID D004413 UMLS CUI C0013393 MedGen ID 4430 Orphanet ID 364559 SNOMED CT ID 109420003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 3 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
VGX-3100	DMMQ2U9	Phase 3	NA	[1]
Amolimogene	DMFDLKV	Phase 2/3	NA	[2]
Bioadhesive berry gel therapy	DM1ZYIC	Phase 1	NA	[3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTB	OT1MCP2F	Strong	Biomarker	[4]
ALX3	OTXZ25PZ	Strong	Biomarker	[5]
EVC	OTRVYMXJ	Strong	Genetic Variation	[6]
EVC2	OTY0M5SD	Strong	Genetic Variation	[7]
HES7	OT6F9R7P	Strong	Genetic Variation	[8]
LFNG	OTPSUBN2	Strong	Genetic Variation	[9]
MESP2	OT7H4LYA	Strong	Genetic Variation	[10]
SF3B4	OTGB9OR9	Strong	Genetic Variation	[11]
EFTUD2	OT3X7QG2	Definitive	Genetic Variation	[12]
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⏷ Show the Full List of 9 DOT(s)

References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	ClinicalTrials.gov (NCT00264732) A Study of Amolimogene (ZYC101a) in Patients With High Grade Cervical Intraepithelial Lesions of the Uterine Cervix. U.S. National Institutes of Health.
3	Effects of a topically applied bioadhesive berry gel on loss of heterozygosity indices in premalignant oral lesions. Clin Cancer Res. 2008 Apr 15;14(8):2421-30.
4	A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am J Hum Genet. 2006 Jun;78(6):947-60. doi: 10.1086/504271. Epub 2006 Apr 21.
5	Frontonasal dysostosis in two successive generations.Am J Med Genet. 1999 Nov 26;87(3):251-3. doi: 10.1002/(sici)1096-8628(19991126)87:3<251::aid-ajmg10>3.0.co;2-g.
6	Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.Hum Mutat. 2009 Dec;30(12):1667-75. doi: 10.1002/humu.21117.
7	A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Hum Genet. 2006 Mar;119(1-2):199-205. doi: 10.1007/s00439-005-0129-2. Epub 2006 Jan 11.
8	Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.Hum Mol Genet. 2008 Dec 1;17(23):3761-6. doi: 10.1093/hmg/ddn272. Epub 2008 Sep 5.
9	Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet. 2006 Jan;78(1):28-37. doi: 10.1086/498879. Epub 2005 Nov 16.
10	Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008 Jun;82(6):1334-41. doi: 10.1016/j.ajhg.2008.04.014. Epub 2008 May 15.
11	Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.PLoS Genet. 2016 Sep 13;12(9):e1006307. doi: 10.1371/journal.pgen.1006307. eCollection 2016 Sep.
12	Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.Cleft Palate Craniofac J. 2015 Mar;52(2):237-9. doi: 10.1597/13-221. Epub 2014 May 7.