Details of Disease

General Information of Disease (ID: DISTLKOB)

Disease Name	Spinal muscular atrophy
Disease Class	8B61: Muscular atrophy
Definition	Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.
Disease Hierarchy	DISF6XLX: Anterior horn disorder DISUHWUI: Motor neurone disease DISTLKOB: Spinal muscular atrophy
ICD Code	ICD-11 ICD-11: 8B61 Expand ICD-11 '8B61 Expand ICD-10 'G12; 'G12.1; 'G12.8; 'G12.9 Expand ICD-9 335
Disease Identifiers	MONDO ID MONDO_0001516 MESH ID D009134 UMLS CUI C0026847 MedGen ID 7755 HPO ID HP:0007269 SNOMED CT ID 5262007

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 4 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
nusinersen	DMRSX53	Approved	Antisense drug	[1]
Risdiplam	DMIMF8J	Approved	NA	[2]
Sodium phenylbutyrate	DMXLBCQ	Approved	Small molecular drug	[3]
Zolgensma	DM57O90	Approved	Gene therapy	[4]
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This Disease is Treated as An Indication in 9 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AVXS-101	DMH6U5P	Phase 3	NA	[5]
ISIS-SMNRx	DMX1RKJ	Phase 3	NA	[6]
LMI070	DM4OAIU	Phase 3	NA	[7]
CK-2127107	DM9FHV8	Phase 2	NA	[7]
RG6237	DM6GJTS	Phase 2	NA	[8]
SRK-015	DMYAXNM	Phase 2	Antibody	[9]
RG7800	DMAGE91	Phase 1/2	NA	[10]
BIIB115	DMD0YJ5	Phase 1	Antisense oligonucleotide	[11]
RG3039	DM8GC65	Phase 1	NA	[12]
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⏷ Show the Full List of 9 Drug(s)

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
AAV2/8-CBA-hSMN1	DMBZS2G	Investigative	NA	[13]
PRO-105	DMX8M3W	Investigative	NA	[13]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 35 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SIGMAR1	TT5TPI6	Limited	Biomarker	[14]
TRPV4	TTKP2SU	Limited	Genetic Variation	[15]
ACVR2B	TTLFRKS	moderate	Biomarker	[16]
GJB1	TTSJIRP	moderate	Genetic Variation	[17]
ITGA11	TTANXZ7	moderate	Biomarker	[18]
SLCO2A1	TTKVTQO	moderate	Biomarker	[19]
UBA1	TTXHWA7	moderate	Altered Expression	[20]
C9orf72	TTA4SHR	Strong	Biomarker	[21]
CARM1	TTIZQFJ	Strong	Biomarker	[22]
CNTN1	TTPR8FK	Strong	Altered Expression	[23]
CTF1	TTXGTZU	Strong	Biomarker	[24]
DCPS	TTLSW9V	Strong	Altered Expression	[25]
DMD	TTWLFXU	Strong	Biomarker	[26]
DNM1	TTE3JW9	Strong	Biomarker	[27]
EPHA4	TTG84D3	Strong	Biomarker	[28]
FUS	TTKGYZ9	Strong	Biomarker	[29]
GART	TTEXB9Z	Strong	Biomarker	[20]
GM2A	TTGOFW6	Strong	Genetic Variation	[30]
HCN1	TTNB6UQ	Strong	Altered Expression	[31]
HCN2	TT9EUT4	Strong	Altered Expression	[31]
HEXA	TTJI5JW	Strong	Biomarker	[32]
HOXA5	TTXSVQP	Strong	Biomarker	[33]
HTT	TTIWZ0O	Strong	Biomarker	[34]
KHDRBS1	TTAT6C7	Strong	Biomarker	[35]
MAP3K10	TT9FN4J	Strong	Biomarker	[36]
MAPK10	TT056SO	Strong	Biomarker	[37]
MYH7	TTNIMDP	Strong	Biomarker	[38]
NR1D1	TTAD1O8	Strong	Biomarker	[39]
RPS6KB2	TTMVQXO	Strong	Genetic Variation	[40]
SLC1A3	TT8WRDA	Strong	Biomarker	[41]
SLC23A2	TTOP832	Strong	Genetic Variation	[42]
STRAP	TT165DP	Strong	Biomarker	[43]
TARDBP	TT9RZ03	Strong	Biomarker	[44]
VDAC2	TTM1I7L	Strong	Altered Expression	[45]
SMN1	TT8QL6X	Definitive	Autosomal recessive	[46]
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⏷ Show the Full List of 35 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A21	DT2UQYR	Strong	Biomarker	[47]
SLC7A10	DTVL2JY	Definitive	Biomarker	[48]
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This Disease Is Related to 93 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BICD2	OTVJ03NZ	Limited	Genetic Variation	[49]
CHCHD10	OTCDHAM6	Limited	Genetic Variation	[50]
EXOSC8	OT75ACNG	Limited	Genetic Variation	[51]
PLS3	OTYBM4PK	Limited	Biomarker	[52]
CARD16	OT4NUHWB	moderate	Biomarker	[53]
CHODL	OTVCNOUQ	moderate	Biomarker	[54]
CORO1C	OTXDF9T3	moderate	Biomarker	[55]
DROSHA	OTCE68KZ	moderate	Biomarker	[56]
ETFA	OTXX61VZ	moderate	Biomarker	[57]
GARS1	OT5B6R9Y	moderate	Biomarker	[20]
HTRA2	OTC7616F	moderate	Altered Expression	[58]
IGFALS	OTTWCZYM	moderate	Biomarker	[48]
LIX1	OT1CPNCC	moderate	Genetic Variation	[59]
NRXN2	OTB04QSU	moderate	Altered Expression	[60]
PLA1A	OT2IXYNX	moderate	Biomarker	[61]
RNPC3	OTW5MKC1	moderate	Biomarker	[62]
TIA1	OTGPN3P8	moderate	Biomarker	[63]
ARHGAP22	OTXUQEFL	Strong	Biomarker	[64]
ARID4B	OTYLPILE	Strong	Biomarker	[65]
ARSF	OTC0L12N	Strong	Biomarker	[66]
ASAH1	OT1DNGXL	Strong	Biomarker	[67]
ASCC1	OTH4VAP9	Strong	Posttranslational Modification	[68]
ATAD3A	OTWF6HBP	Strong	Biomarker	[69]
ATP6V1B2	OTNX2V4Z	Strong	Altered Expression	[70]
BICD1	OT78IYPF	Strong	Genetic Variation	[71]
CANX	OTYP1F6J	Strong	Biomarker	[72]
CCDC8	OTO295IH	Strong	Biomarker	[72]
CD2AP	OTC76KQM	Strong	Biomarker	[73]
CDK2AP1	OTNFOHDJ	Strong	Genetic Variation	[74]
CELF2	OTLJJ4VT	Strong	Altered Expression	[75]
CHML	OTW3VW8D	Strong	Altered Expression	[64]
CHP1	OTHTXN1A	Strong	Biomarker	[52]
COIL	OTP4I4DL	Strong	Biomarker	[76]
COPA	OTZ1DTXU	Strong	Biomarker	[53]
DNAJB2	OTZHPV5M	Strong	Genetic Variation	[77]
DYNC1H1	OTD1KRKO	Strong	Genetic Variation	[74]
EEF1D	OTM5ZD8Y	Strong	Genetic Variation	[78]
EIF3K	OTGTKVGO	Strong	Genetic Variation	[79]
ELAVL4	OT3YH6J6	Strong	Biomarker	[80]
EMX1	OT7NG5MJ	Strong	Biomarker	[81]
ERCC3	OTVAW3P1	Strong	Biomarker	[82]
EXOSC3	OTNCF906	Strong	Biomarker	[83]
FBXO32	OTUE978R	Strong	Biomarker	[84]
GCHFR	OTEOT8GI	Strong	Biomarker	[85]
GEMIN2	OT4L6TLL	Strong	Biomarker	[35]
GEMIN6	OTE262KF	Strong	Biomarker	[86]
GEMIN8	OTXGA3N9	Strong	Biomarker	[87]
GTF2H3	OT87W5QJ	Strong	Biomarker	[82]
GTF2H4	OTPD1DIU	Strong	Biomarker	[82]
GTF2H5	OTRL219S	Strong	Biomarker	[82]
HAPLN1	OTXWR9TJ	Strong	Biomarker	[88]
HNRNPR	OT3FITK2	Strong	Biomarker	[89]
IGHMBP2	OTAZFPF5	Strong	Genetic Variation	[90]
KDSR	OTCIES3H	Strong	Genetic Variation	[91]
KIF1B	OTI1XQTO	Strong	Biomarker	[92]
LSM2	OTHL77NY	Strong	Biomarker	[93]
MAD2L1BP	OT2O2IUJ	Strong	Biomarker	[92]
MAP1B	OTVXW089	Strong	Biomarker	[94]
MORC2	OT52A8BJ	Strong	Genetic Variation	[95]
MYOG	OTPLJKFA	Strong	Biomarker	[96]
NAIP	OTLA925F	Strong	Biomarker	[97]
NCALD	OTJZ8UEL	Strong	Biomarker	[36]
NCDN	OT5CE7LO	Strong	Biomarker	[98]
NCOR2	OTY917X0	Strong	Genetic Variation	[42]
NEFH	OTMSCW5I	Strong	Biomarker	[99]
NEFL	OTQESJV4	Strong	Biomarker	[100]
OXA1L	OTS0BFRD	Strong	Biomarker	[101]
PAX7	OTDMQRPO	Strong	Altered Expression	[102]
POP5	OTCZTDJC	Strong	Genetic Variation	[103]
POP7	OTKC7SG5	Strong	Genetic Variation	[103]
PPP1R11	OTSHYPPW	Strong	Biomarker	[104]
PSMD4	OTH1VZTM	Strong	Biomarker	[66]
RAB1A	OTKPHRD0	Strong	Biomarker	[105]
RAB8A	OTPB54Y3	Strong	Altered Expression	[106]
RBM7	OTFIWTMF	Strong	Genetic Variation	[107]
RNASE4	OTA5SZLC	Strong	Biomarker	[105]
RPL9	OTKE01O8	Strong	Altered Expression	[42]
SCAF11	OTX59D0X	Strong	Biomarker	[108]
SCO2	OTJQQDRS	Strong	Genetic Variation	[109]
SERF1A	OT9F7AMT	Strong	Biomarker	[110]
SETX	OTG3JNOQ	Strong	Altered Expression	[111]
SLC25A46	OTFEV9SV	Strong	Genetic Variation	[51]
SMNDC1	OTGUZYMJ	Strong	Biomarker	[112]
STARD13	OTB4U1HY	Strong	Biomarker	[113]
STATH	OTQHBHM9	Strong	Genetic Variation	[114]
SYNCRIP	OTRNDZXB	Strong	Altered Expression	[60]
TBCD	OTS4JKNQ	Strong	Biomarker	[115]
TK2	OTS1V4XB	Strong	Genetic Variation	[116]
TMEM41B	OTW0B0KS	Strong	Biomarker	[117]
TRA2B	OTZYQW52	Strong	Altered Expression	[58]
TRIP4	OTA8OASA	Strong	Biomarker	[48]
RPL3	OTX6VXLB	Definitive	Biomarker	[48]
SMN1	OT54RLO1	Definitive	Autosomal recessive	[46]
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⏷ Show the Full List of 93 DOT(s)

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63	TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy.Sci Rep. 2017 Aug 3;7(1):7183. doi: 10.1038/s41598-017-07468-2.
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70	Extracellular pH change modulates the exon 7 splicing in SMN2 mRNA.Mol Cell Neurosci. 2008 Oct;39(2):268-72. doi: 10.1016/j.mcn.2008.07.002. Epub 2008 Jul 11.
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