Details of Disease

General Information of Disease (ID: DISJD6P7)

Disease Name	Muscular dystrophy
Disease Class	8C70: Muscular dystrophy
Definition	Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.
Disease Hierarchy	DISLG2RO: Hereditary neuromuscular disease DISU0K94: Hereditary skeletal muscle disorder DISOWG27: Myopathy DISJD6P7: Muscular dystrophy
ICD Code	ICD-11 ICD-11: 8C70 ICD-10 ICD-10: G71.0 Expand ICD-11 '8C70 Expand ICD-10 'G71.0
Disease Identifiers	MONDO ID MONDO_0020121 MESH ID D009136 UMLS CUI C0026850 MedGen ID 44527 HPO ID HP:0003560 Orphanet ID 98473 SNOMED CT ID 73297009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
Pargyline	DMM0HR1	Approved	Small molecular drug	[1]
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This Disease is Treated as An Indication in 7 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Angiotensin-(1-7)	DM76GZ0	Phase 3	Small molecular drug	[2]
Ataluren	DM4GXW3	Phase 3	Small molecular drug	[3]
ACE-083	DM7MEE7	Phase 2	NA	[3]
Omigapil	DMH9RTV	Phase 2	Small molecular drug	[3]
PF-06252616	DMQLZOF	Phase 2	Antibody	[4]
Trehalose	DMWX8UM	Phase 2	NA	[2]
ATYR 1940	DMJ3C4P	Phase 1/2	NA	[3]
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⏷ Show the Full List of 7 Drug(s)

This Disease is Treated as An Indication in 2 Discontinued Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
C-101	DMW84KN	Discontinued in Phase 3	Small molecular drug	[5]
Kifunensine	DM4BACH	Terminated	Small molecular drug	[6]
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This Disease is Treated as An Indication in 2 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
LAM-111	DMDKIO3	Investigative	NA	[7]
VT-401	DM09VMI	Investigative	NA	[7]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 33 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACHE	TT1RS9F	Limited	Biomarker	[8]
BCHE	TT3MSAO	Limited	Biomarker	[8]
HSPB8	TTY0OJN	Limited	Genetic Variation	[9]
SGCA	TTS9Q5V	Limited	Biomarker	[10]
SGCG	TTSMT9W	Limited	Biomarker	[11]
UTRN	TTNO1VA	Limited	Biomarker	[12]
ANO1	TTOJI4S	moderate	Genetic Variation	[13]
ANPEP	TTPHMWB	moderate	Biomarker	[14]
FHL1	TTI7ENL	moderate	Genetic Variation	[15]
FST	TTDNM9W	moderate	Biomarker	[16]
HSPA8	TTMQL3K	moderate	Biomarker	[14]
ORAI1	TTE76YK	moderate	Biomarker	[17]
SGCB	TTEDCQ0	moderate	Biomarker	[18]
ACVR2B	TTLFRKS	Strong	Biomarker	[19]
COL6A3	TT5WCAH	Strong	Biomarker	[20]
DLG4	TT9PB26	Strong	Altered Expression	[21]
DPEP1	TTYUENF	Strong	Biomarker	[22]
DUSP10	TTF3RJ0	Strong	Biomarker	[23]
GJB6	TTAU8SJ	Strong	Biomarker	[24]
MCOLN1	TT9XBVO	Strong	Biomarker	[25]
MGAM	TTXWASR	Strong	Biomarker	[26]
MSTN	TTM8I2X	Strong	Biomarker	[27]
NR0B1	TTTK36V	Strong	Biomarker	[28]
PKN1	TTSL41O	Strong	Genetic Variation	[29]
PPID	TTNAFOU	Strong	Genetic Variation	[30]
PPIF	TTRFQTB	Strong	Biomarker	[30]
SETD7	TTJ0FSU	Strong	Biomarker	[31]
TOR1A	TTF85KW	Strong	Biomarker	[32]
TPH2	TT3KLDP	Strong	Genetic Variation	[33]
TRPV2	TTBECWA	Strong	Biomarker	[34]
VDAC3	TTT48SQ	Strong	Altered Expression	[35]
WWP1	TTBWMKT	Strong	Genetic Variation	[36]
DMPK	TTZQTY2	Definitive	Genetic Variation	[37]
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⏷ Show the Full List of 33 DTT(s)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHKB	DEHWR6V	Strong	Biomarker	[38]
SI	DE5EO4Y	Strong	Biomarker	[26]
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This Disease Is Related to 96 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CAPN3	OTCHG3YK	Limited	Biomarker	[39]
CAV3	OTWSFDB4	Limited	Genetic Variation	[40]
CAVIN1	OTFO915U	Limited	Genetic Variation	[41]
COL6A1	OTYKSCOB	Limited	Biomarker	[42]
FKRP	OTMUZ7GH	Limited	Biomarker	[43]
LAMB2	OT71OI2Y	Limited	Biomarker	[44]
POMGNT1	OTBNOUZC	Limited	Biomarker	[45]
PRIMA1	OT9ITT3P	Limited	Biomarker	[8]
SELENON	OTSGKO5M	Limited	Genetic Variation	[46]
TCAP	OTQQMJ94	Limited	Biomarker	[47]
DNAJB6	OTMHIIAN	Disputed	Genetic Variation	[48]
ANXA6	OT9KIQ0Y	moderate	Biomarker	[49]
BVES	OT4GT1WC	moderate	Genetic Variation	[50]
DTNA	OTVBIRH2	moderate	Biomarker	[51]
FRG1	OTEJ8HSD	moderate	Biomarker	[52]
GOSR2	OTYHIYN2	moderate	Genetic Variation	[53]
HCFC1	OT0UCK62	moderate	Genetic Variation	[54]
ITGA7	OTTBTAYW	moderate	Biomarker	[55]
LDB3	OTGQL1AM	moderate	Biomarker	[56]
LIMS2	OTZ7IIPM	moderate	Genetic Variation	[57]
MB	OTYWYL2D	moderate	Biomarker	[58]
MYOF	OTRFC3IJ	moderate	Biomarker	[59]
POMGNT2	OT0S9Z0J	moderate	Biomarker	[60]
POMT1	OTGQSHL5	moderate	Genetic Variation	[61]
SYNE1	OTSBSLUH	moderate	Genetic Variation	[62]
SYNE2	OTBUXGQ0	moderate	Genetic Variation	[62]
TNPO3	OTOT3HH0	moderate	Genetic Variation	[63]
TOR1AIP1	OTTG8MAK	moderate	Biomarker	[64]
TRAF3	OT5TQBGV	moderate	Biomarker	[14]
TRAPPC11	OTPZYXGA	moderate	Genetic Variation	[53]
ACTN3	OT9DZ7JQ	Strong	Genetic Variation	[65]
AGL	OTWBM7WY	Strong	Genetic Variation	[66]
ANO10	OTG3BNOU	Strong	Genetic Variation	[67]
ANO6	OTTA5KQJ	Strong	Genetic Variation	[67]
B3GALNT2	OTOF6O2B	Strong	Genetic Variation	[68]
B3GNT2	OTE69HV8	Strong	Biomarker	[69]
B4GALNT2	OT85V4QV	Strong	Altered Expression	[70]
B4GAT1	OT5NH9TD	Strong	Biomarker	[69]
BAG3	OTVXYUDQ	Strong	Biomarker	[47]
BANF1	OTP7Z38L	Strong	Biomarker	[71]
BEST1	OTWHE1ZC	Strong	Genetic Variation	[72]
CELF1	OT6JQ5RS	Strong	Biomarker	[73]
COL22A1	OTSWGZRD	Strong	Genetic Variation	[74]
COL6A2	OTQC6PPO	Strong	Genetic Variation	[75]
CRPPA	OTC85K8Q	Strong	Genetic Variation	[76]
DES	OTI09KBW	Strong	Biomarker	[77]
DPM2	OTDERBWM	Strong	Genetic Variation	[78]
EFEMP2	OT0I2B4J	Strong	Biomarker	[79]
EGFLAM	OTACZZJ0	Strong	Biomarker	[80]
EMD	OTR8ZANE	Strong	Biomarker	[81]
FKTN	OTQ9GCXL	Strong	Genetic Variation	[82]
FLNC	OT3F8J6Y	Strong	Genetic Variation	[83]
GMPPB	OTJ0CCJ8	Strong	Genetic Variation	[84]
HIVEP1	OT7CAG4A	Strong	Biomarker	[79]
IMPA1	OTBUVW1Z	Strong	Biomarker	[85]
INPP5B	OT0SC8W5	Strong	Genetic Variation	[86]
INPP5K	OTQFLQKA	Strong	Genetic Variation	[87]
KIF7	OT1J6NAW	Strong	Biomarker	[88]
LAMA1	OTQZMP86	Strong	Biomarker	[89]
LAMA2	OTFROQWE	Strong	Biomarker	[90]
LARGE2	OT5BZS3J	Strong	Biomarker	[91]
LMNA	OT3SG7ZR	Strong	Genetic Variation	[92]
LMNB1	OT100T3P	Strong	Genetic Variation	[93]
MAP2K6	OTK13JKC	Strong	Biomarker	[94]
MATR3	OTESJ5S7	Strong	Biomarker	[47]
MMD	OTB5I4OC	Strong	Genetic Variation	[67]
MSTO1	OT37XCNP	Strong	Genetic Variation	[95]
MYOD1	OTV2S79X	Strong	Genetic Variation	[96]
NAT9	OT4ZKCRS	Strong	Biomarker	[97]
OBSCN	OTT14OVX	Strong	Genetic Variation	[83]
PABPN1	OT3MC5SE	Strong	Genetic Variation	[98]
PEG3	OTHQW98S	Strong	Biomarker	[99]
PIK3C2A	OTFBU4GD	Strong	Biomarker	[100]
PLEC	OTU4XDEG	Strong	Biomarker	[101]
PNN	OT0HXICH	Strong	Genetic Variation	[102]
POGLUT1	OTDX7GZD	Strong	Genetic Variation	[103]
POMT2	OTO1ZQZX	Strong	Genetic Variation	[104]
PRG2	OT0BCPQG	Strong	Biomarker	[79]
RXYLT1	OTQTO7VU	Strong	Biomarker	[105]
SGCD	OTRBL3NQ	Strong	Genetic Variation	[106]
SGCE	OT9F17JB	Strong	Genetic Variation	[107]
SHOX	OTE0YZJO	Strong	Genetic Variation	[108]
SIDT2	OTU2L002	Strong	Biomarker	[109]
SNTB1	OTSRBECI	Strong	Genetic Variation	[110]
SSPN	OTYG2SL7	Strong	Biomarker	[111]
SUN1	OTIU8V4U	Strong	Genetic Variation	[112]
SYNJ1	OTTE02XC	Strong	Genetic Variation	[86]
SYNJ2	OTLRHXP1	Strong	Genetic Variation	[86]
TRAT1	OTMPUNPD	Strong	Biomarker	[113]
TRIM32	OTJOV0PG	Strong	Genetic Variation	[114]
TRIM63	OTUSWA74	Strong	Biomarker	[115]
TRIM72	OTFAFXPC	Strong	Biomarker	[113]
TTN	OT0LZ058	Strong	Genetic Variation	[116]
LTBP4	OTC8WL2V	Definitive	Biomarker	[117]
MYOT	OTCEW5XW	Definitive	Genetic Variation	[118]
SMCHD1	OTBV52DR	Definitive	Biomarker	[119]
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⏷ Show the Full List of 96 DOT(s)

References

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36	-dystroglycan is regulated by a balance between WWP1-mediated degradation and protection from WWP1 by dystrophin and utrophin.Biochim Biophys Acta Mol Basis Dis. 2018 Jun;1864(6 Pt A):2199-2213. doi: 10.1016/j.bbadis.2018.04.001. Epub 2018 Apr 7.
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44	Chimeric protein identification of dystrophic, Pierson and other laminin polymerization residues.Matrix Biol. 2018 Apr;67:32-46. doi: 10.1016/j.matbio.2018.01.012. Epub 2018 Mar 3.
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46	A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.BMC Med Genet. 2019 Jan 14;20(1):13. doi: 10.1186/s12881-018-0743-1.
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