Details of Disease

General Information of Disease (ID: DIS606GH)

Disease Name	Refractory multiple myeloma
Synonyms	HMO; hereditary multiple exostoses; hereditary multiple exostosis; multiple exostoses; EXT; hereditary multiple exostoses 3; hereditary multiple exostoses 2; hereditary multiple exostoses 1; multiple ostechondromas; osteochondromatosis syndrome; osteochondromatosis syndrome (disorder) [ambiguous]; Bessel-Hagen disease; exostoses, multiple; multiple congenital exostosis; multiple exostosis syndromes; multiple cartilaginous exostoses
Disease Class	2A83: Multiple myeloma
Definition	A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.\|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
Disease Hierarchy	DIS3VKEI: Exostosis DISPLTKN: Bone neoplasm DISGXLG5: Hereditary neoplastic syndrome DIS8I9FS: Hereditary disorder of connective tissue DIS606GH: Refractory multiple myeloma
ICD Code	ICD-11 ICD-11: 2A83 ICD-10 ICD-10: C90
Disease Identifiers	MONDO ID MONDO_0005508 MESH ID D005097 UMLS CUI C0015306 OMIM ID 133700 MedGen ID 4612 HPO ID HP:0002762 Orphanet ID 321 SNOMED CT ID 254044004

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
TAK-573	DMUXAP1	Phase 1	Recombinant protein	[1]
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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
MMP12	TTXZ0KQ	Disputed	Genetic Variation	[2]
SDC2	TT5H2F0	Disputed	Biomarker	[3]
ACVR2A	TTX2DRI	Strong	Altered Expression	[4]
PTPN11	TT7WUAV	Definitive	Biomarker	[5]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPS1	OT7XPPEL	Disputed	Genetic Variation	[6]
EXT1	OTRPALJK	Supportive	Autosomal dominant	[7]
EXT2	OT8IR5QN	Supportive	Autosomal dominant	[7]
ALX4	OTNS9A29	Strong	Genetic Variation	[8]
LEMD3	OTILAM4I	Strong	Genetic Variation	[9]
SAMD12	OTIFG9O6	Strong	Genetic Variation	[10]
STATH	OTQHBHM9	Strong	Genetic Variation	[11]
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⏷ Show the Full List of 7 DOT(s)

References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.Proc Natl Acad Sci U S A. 2010 Feb 2;107(5):2054-9. doi: 10.1073/pnas.0910875107. Epub 2009 Dec 22.
3	HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas.PLoS One. 2012;7(1):e29734. doi: 10.1371/journal.pone.0029734. Epub 2012 Jan 11.
4	Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma.Genome Res. 2014 Sep;24(9):1411-20. doi: 10.1101/gr.160598.113. Epub 2014 Jul 14.
5	Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14.
6	Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8.Hum Genet. 1999 Dec;105(6):619-28. doi: 10.1007/s004399900176.
7	Hereditary Multiple Osteochondromas. 2000 Aug 3 [updated 2020 Aug 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
8	A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.Am J Med Genet A. 2015 Dec;167A(12):3011-8. doi: 10.1002/ajmg.a.37344. Epub 2015 Sep 3.
9	Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.BMC Med Genet. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110.
10	RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.Mol Genet Genomic Med. 2019 Mar;7(3):e00560. doi: 10.1002/mgg3.560. Epub 2019 Jan 10.
11	Genetic heterogeneity in families with hereditary multiple exostoses.Am J Hum Genet. 1993 Jul;53(1):71-9.