Details of Disease

General Information of Disease (ID: DISNBEMX)

• Disease Name: Myotonic dystrophy
• Synonyms: myotonia atrophica; myotonic disease; myotonia dystrophica; inherited myotonic dystrophy
• Disease Class: 8C71: Myotonic disorder
• Definition: An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.
• Disease Hierarchy:
  DISPCJM5: Myotonic syndrome
  DISV66YX: Progressive muscular dystrophy
  DISNBEMX: Myotonic dystrophy
• ICD Code:
  ICD-11: ICD-11: 8C71.0
  Expand ICD-11: '8C71.0
• Disease Identifiers:
  MONDO ID: MONDO_0016107
  MESH ID: D009223
  UMLS CUI: C0027126
  MedGen ID: 10239
  Orphanet ID: 206647
  SNOMED CT ID: 1177122009

Drug-Interaction Atlas (DIA) of This Disease

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
AMO-02	DMJRU3A	Phase 2/3	NA	[1]
IONIS-DMPK-2.5RX	DMS0CZ3	Phase 2	NA	[2]
ISIS-DMPK	DMH32LC	Phase 1/2	Antisense drug	[3]

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
2-MOE phosphorothioate gapmers	DM4IJXW	Investigative	Antisense drug	[4]
Myotubularin	DMHU0ML	Investigative	NA	[5]
PRO-135	DMA2SBL	Investigative	Antisense drug	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 21 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DYSF	TTA7MXQ	Limited	Genetic Variation	[6]
INSR	TTCBFJO	Limited	Biomarker	[7]
MBNL2	TTH9OLG	Limited	Biomarker	[8]
MTMR1	TTHDERA	moderate	Altered Expression	[9]
ATXN3	TT6A17J	Strong	Biomarker	[10]
BUB1	TT78309	Strong	Biomarker	[11]
CDC42BPA	TT5Z0EF	Strong	Biomarker	[12]
DDX5	TTZKPVC	Strong	Biomarker	[13]
MTM1	TTY2TCU	Strong	Genetic Variation	[14]
NEK6	TT8I2M7	Strong	Biomarker	[11]
PEPD	TTLZXI0	Strong	Biomarker	[15]
PGD	TTZ3IFB	Strong	Biomarker	[16]
PRKCA	TTFJ8Q1	Strong	Biomarker	[17]
PRKCB	TTYPXQF	Strong	Biomarker	[17]
PRKCG	TTRFOXJ	Strong	Biomarker	[18]
QPCT	TTJ7YTV	Strong	Biomarker	[19]
SCN5A	TTZOVE0	Strong	Biomarker	[20]
TNNI3	TTNLDK6	Strong	Altered Expression	[21]
DMD	TTWLFXU	Definitive	Biomarker	[22]
HCRT	TTU5HJP	Definitive	Altered Expression	[23]
PLCB1	TTLPGU7	Definitive	Biomarker	[24]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	moderate	Biomarker	[25]
CYP2A13	DEXZA9U	Strong	Biomarker	[26]

This Disease Is Related to 51 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APOC2	OTLINYIQ	Limited	Biomarker	[27]
ASB2	OTF9LV7L	Limited	Biomarker	[28]
CEBPD	OTNBIPMY	Limited	Altered Expression	[29]
CELF1	OT6JQ5RS	Limited	Biomarker	[30]
CKM	OTME0KO7	Limited	Genetic Variation	[31]
DDX6	OTKWXVDY	Limited	Altered Expression	[32]
DMWD	OT0CBZ6F	Limited	Genetic Variation	[33]
MBNL1	OTOV7J85	Limited	Altered Expression	[29]
MMD	OTB5I4OC	Limited	Genetic Variation	[6]
OXA1L	OTS0BFRD	Limited	Biomarker	[34]
RBFOX1	OTFPKEL7	Limited	Biomarker	[35]
RSPH6A	OTJ96T2F	Limited	Genetic Variation	[36]
SIX5	OTT1I9WY	Limited	Genetic Variation	[37]
SPEN	OT37A2MD	Limited	Biomarker	[38]
AMPH	OTWPGWZX	Strong	Biomarker	[39]
APOC1	OTA58CED	Strong	Biomarker	[26]
ARF3	OTYYQX85	Strong	Biomarker	[40]
ATP1A3	OTM8EG6H	Strong	Biomarker	[41]
BCL3	OT1M5B95	Strong	Biomarker	[42]
BIN1	OTK8O0X8	Strong	Biomarker	[39]
BPIFA2	OTLFSDZD	Strong	Biomarker	[43]
CDC42BPB	OTO6NT7Q	Strong	Biomarker	[44]
CELF2	OTLJJ4VT	Strong	Biomarker	[45]
CELF6	OT111JZ3	Strong	Biomarker	[46]
CLIP1	OTTGAEJE	Strong	Altered Expression	[8]
CLIP2	OTSCIQIY	Strong	Altered Expression	[8]
CYP2A7	OTRJ3P2Z	Strong	Biomarker	[26]
DESI1	OTFNIW98	Strong	Biomarker	[47]
ERCC1	OTNPYQHI	Strong	Biomarker	[48]
FAM107B	OT5RG4J0	Strong	Altered Expression	[8]
GPR4	OTIBF32I	Strong	Biomarker	[49]
JPH3	OTHTJO2I	Strong	Genetic Variation	[50]
LDB3	OTGQL1AM	Strong	Biomarker	[17]
MYOG	OTPLJKFA	Strong	Altered Expression	[51]
NKX2-5	OTS1SAWM	Strong	Altered Expression	[52]
OPN1MW	OTPJ7LX4	Strong	Biomarker	[53]
PRRT2	OTCJUBDO	Strong	Biomarker	[17]
PSPH	OTV1PVAX	Strong	Biomarker	[43]
PSPN	OT54LLZJ	Strong	Biomarker	[43]
RAB1B	OTAFCUAS	Strong	Biomarker	[40]
RAB6B	OT5N57RK	Strong	Biomarker	[40]
RAN	OT2TER5M	Strong	Biomarker	[54]
RANGAP1	OTZGD3LJ	Strong	Genetic Variation	[55]
RAP1B	OTHEIIMM	Strong	Biomarker	[40]
RAP2B	OTD2NDQP	Strong	Biomarker	[40]
REM1	OTUXL0HC	Strong	Biomarker	[56]
RIDA	OTW4098I	Strong	Biomarker	[43]
SLC35G1	OTKZUA8O	Strong	Biomarker	[47]
SRSF2	OTVDHO6U	Strong	Genetic Variation	[57]
STXBP3	OTTTYMAQ	Strong	Biomarker	[43]
SYN1	OTMNPWC1	Strong	Altered Expression	[58]

References

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