Details of Disease | DrugMAP

General Information of Disease (ID: DISTJPCE)

Disease Name	Camurati-Engelmann disease
Synonyms	diaphyseal dysplasia 1, progressive; CED; Engelmann disease; DPD1; CAEND; diaphyseal dysplasia; Camurati-Englemann disease; progressive diaphyseal dysplasia; Engelman's disease; Camurati-Engelmann syndrome; Camurati-Engelmann disease
Definition	Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS5Z8U6: Skeletal dysplasia DISTJPCE: Camurati-Engelmann disease
Disease Identifiers	MONDO ID MONDO_0007542 MESH ID D003966 UMLS CUI C0011989 OMIM ID 131300 MedGen ID 4268 HPO ID HP:0100252 Orphanet ID 1328 SNOMED CT ID 34643004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TGFB1	TTR9XHZ	Limited	Genetic Variation	[1]
TNFSF11	TT9E8HR	Limited	Altered Expression	[2]
IRAK4	TTILUKB	Strong	Genetic Variation	[3]
TGFB1	TTR9XHZ	Definitive	Autosomal dominant	[4]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IFT122	OTSK3OAD	Strong	Genetic Variation	[5]
MITF	OT6XJCZH	Strong	Biomarker	[6]
TGFB1	OTV5XHVH	Definitive	Autosomal dominant	[4]
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References

1	Observations on the Natural History of Camurati-Engelmann Disease.J Bone Miner Res. 2019 May;34(5):875-882. doi: 10.1002/jbmr.3670. Epub 2019 Feb 19.
2	Camurati-Engelmann disease: unique variant featuring a novel mutation in TGF1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.J Bone Miner Res. 2011 May;26(5):920-33. doi: 10.1002/jbmr.283.
3	Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.J Exp Med. 2008 Jul 7;205(7):1543-50. doi: 10.1084/jem.20080321.
4	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
5	Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.Hum Mol Genet. 2018 Feb 1;27(3):516-528. doi: 10.1093/hmg/ddx421.
6	Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development.Proc Natl Acad Sci U S A. 2002 Apr 2;99(7):4477-82. doi: 10.1073/pnas.072071099.