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Entry Name Description Category Pathway Gene
H00292 Hypertrophic cardiomyopathy ... characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myofibrillar disarray, and interstitial fibrosis. HCM is one of the most common inherited cardiac disorders ... Cardiovascular disease hsa05410 Hypertrophic cardiomyopathy (CMH1) MYH7 [HSA:4625] [KO:K17751]
(CMH1) MYLK2 [HSA:85366] [KO:K00907]
(CMH1) CAV3 [HSA:859] [KO:K12959]
(CMH2) TNNT2 [HSA:7139] [KO:K12045]
(CMH3) TPM1 [HSA:7168] [KO:K10373]
(CMH4) MYBPC3 [HSA:4607] [KO:K12568]
(CMH6) PRKAG2 [HSA:51422] [KO:K07200]
(CMH7) TNNI3 [HSA:7137] [KO:K12044]
(CMH8) MYL3 [HSA:4634] [KO:K12749]
(CMH9) TTN [HSA:7273] [KO:K12567]
(CMH10) MYL2 [HSA:4633] [KO:K10351]
(CMH11) ACTC1 [HSA:70] [KO:K12314]
(CMH12) CSRP3 [HSA:8048] [KO:K09377]
(CMH13) TNNC1 [HSA:7134] [KO:K05865]
(CMH14) MYH6 [HSA:4624] [KO:K17751]
(CMH15) VCL [HSA:7414] [KO:K05700]
(CMH16) MYOZ2 [HSA:51778] [KO:K26050]
(CMH17) JPH2 [HSA:57158] [KO:K19530]
(CMH18) PLN [HSA:5350] [KO:K05852]
(CMH20) NEXN [HSA:91624] [KO:K23918]
(CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028]
(CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073]
(CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867]
(CMH25) TCAP [HSA:8557] [KO:K19879]
(CMH26) FLNC [HSA:2318] [KO:K27393]
(CMH27) ALPK3 [HSA:57538] [KO:K08868]
(CMH28) FHOD3 [HSA:80206] [KO:K23939]
(CMH29) KLHL24 [HSA:54800] [KO:K10461]
(CMH30) CORIN [HSA:10699] [KO:K09614]
H00594 Distal myopathy ... the genes code for structural and functional components of the sarcomere. The genes responsible for the pathologically defined category of myofibrillar myopathy are frequently display a distal phenotype. Nervous system disease; Musculoskeletal disease (MMD1,DMAT) DYSF [HSA:8291] [KO:K18261]
(MMD3) ANO5 [HSA:203859] [KO:K19480]
(NM) GNE [HSA:10020] [KO:K12409]
(DMRV) SQSTM1 [HSA:8878] [KO:K14381]
(WDM) TIA1 [HSA:7072] [KO:K13201]
(TMD) TTN [HSA:7273] [KO:K12567]
(MPD1) MYH7 [HSA:4625] [KO:K17751]
(MPD4) FLNC [HSA:2318] [KO:K27393]
(MPD5) ADSS1 [HSA:122622] [KO:K01939]
(MPD6) ACTN2 [HSA:88] [KO:K21073]
(MPD7) SMPX [HSA:23676] [KO:K24209]
(MPDT) CAV3 [HSA:859] [KO:K12959]
H00595 Myofibrillar myopathies Myofibrillar myopathy (MFM) is a group of genetically distinct disorders linked by common morphologic features observed on muscle histology. MFM is characterized by slowly progressive weakness that can ... Nervous system disease; Musculoskeletal disease (MFM1) DES [HSA:1674] [KO:K07610]
(MFM2) CRYAB [HSA:1410] [KO:K09542]
(MFM3) MYOT [HSA:9499] [KO:K19875]
(MFM4) LDB3 [HSA:11155] [KO:K19867]
(MFM5) FLNC [HSA:2318] [KO:K27393]
(MFM6) BAG3 [HSA:9531] [KO:K09557]
(MFM7) KY [HSA:339855] [KO:K24456]
(MFM8) PYROXD1 [HSA:79912] [KO:K24426]
(MFM9) TTN [HSA:7273] [KO:K12567]
(MFM10) SVIL [HSA:6840] [KO:K10369]
(MFM11) UNC45B [HSA:146862] [KO:K21991]
(MFM12) MYL2 [HSA:4633] [KO:K10351]
H00698 Nemaline myopathy ... It is characterized by the presence of rods or nemaline bodies, which are red-purple inclusions in myofibers detected by modified Gomori trichrome technique. The hallmark symptoms are generalized muscle ... Nervous system disease; Musculoskeletal disease (NEM1) TPM3 [HSA:7170] [KO:K09290]
(NEM2) NEB [HSA:4703] [KO:K18267]
(NEM3) ACTA1 [HSA:58] [KO:K10354]
(NEM4) TPM2 [HSA:7169] [KO:K10374]
(NEM5A/5B/5C) TNNT1 [HSA:7138] [KO:K10372]
(NEM6) KBTBD13 [HSA:390594] [KO:K21913]
(NEM7) CFL2 [HSA:1073] [KO:K05765]
(NEM8) KLHL40 [HSA:131377] [KO:K10473]
(NEM9) KLHL41 [HSA:10324] [KO:K10473]
(NEM10) LMOD3 [HSA:56203] [KO:K22030]
(NEM11) MYPN [HSA:84665] [KO:K22028]
H00702 Cap myopathy ... disorganized thin filaments in the periphery of muscle fibers. These structures are in fact disarranged myofibrils with enlarged Z discs and no thick filaments. The severity of the disease is related to the ... Nervous system disease; Musculoskeletal disease TRM2 [HSA:7169] [KO:K10374]
TRM3 [HSA:7170] [KO:K09290]
ACTA1 [HSA:58] [KO:K10354]
H00811 Distal arthrogryposis ... are also referred to as Freeman-Sheldon syndrome and Sheldon-Hall syndrome, respectively. The most of causative genes have implicated proteins of the contractile apparatus of the fast-twitch myofibers. Congenital malformation (DA1A, DA2B4) TPM2 [HSA:7169] [KO:K10374]
(DA1B) MYBPC1 [HSA:4604] [KO:K12557]
(DA1C) MYL11 [HSA:29895] [KO:K12758]
(DA2A, DA2B3) MYH3 [HSA:4621] [KO:K24220]
(DA2B1) TNNI2 [HSA:7136] [KO:K12043]
(DA2B2) TNNT3 [HSA:7140] [KO:K12046]
(DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128]
(DA5D) ECEL1 [HSA:9427] [KO:K09610]
(DA7) MYH8 [HSA:4626] [KO:K24220]
(DA9) FBN2 [HSA:2201] [KO:K23342]
(DA11) MET [HSA:4233] [KO:K05099]
(DA12) ADAMTS15 [HSA:170689] [KO:K08629]
H01006 Hereditary angioedema Hereditary angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema ... Cardiovascular disease (HAE1/2) SERPING1 [HSA:710] [KO:K04001]
(HAE3) F12 [HSA:2161] [KO:K01328]
(HAE4) PLG [HSA:5340] [KO:K01315]
(HAE5) ANGPT1 [HSA:284] [KO:K05465]
(HAE6) KNG1 [HSA:3827] [KO:K03898]
(HAE7) MYOF [HSA:26509] [KO:K22125]
(HAE8) HS3ST6 [HSA:64711] [KO:K09679]
H01291 Spheroid body myopathy
Myofibrillar myopathy 3 		Spheroid body myopathy (SBM) is a rare autosomal dominant neuromuscular disorder characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. The unique feature noted pathologically ... Nervous system disease; Musculoskeletal disease (MFM3) MYOT [HSA:9499] [KO:K19875]
H01910 Infantile myofibromatosis Infantile myofibromatosis (IM) is a benign fibrous tumour of infancy. The most common mode of presentation is with multiple subcutaneous swellings. Most IM lesions occur in neonates or infants under 24 ... Neoplasm (IMF1) PDGFRB [HSA:5159] [KO:K05089]
(IMF2) NOTCH3 [HSA:4854] [KO:K20995]
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