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Entry | Name | Description | Category | Pathway | Gene |
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H00524 | Scapuloperoneal spinal muscular atrophy | Scapuloperoneal spinal muscular atrophy (SPSMA) is one of the TRPV4-related diseases. They are a heterogeneous group of dominantly inherited disorders with muscle weakness. Mutations in TRPV4 have been ... | Nervous system disease | TRPV4 [HSA:59341] [KO:K04973] | |
H00563 | Emery-Dreifuss muscular dystrophy | ... progressive muscle weakness and wasting initially in a humeroperoneal distribution that later extends to the scapular and pelvic girdle muscles, and cardiac involvement that usually occurs after the second decade ... | Nervous system disease; Musculoskeletal disease |
(EDMD1) EMD [HSA:2010] [KO:K12569] (EDMD2 EDMD3) LMNA [HSA:4000] [KO:K12641] (EDMD4) SYNE1 [HSA:23345] [KO:K19326] (EDMD5) SYNE2 [HSA:23224] [KO:K19346] (EDMD6) FHL1 [HSA:2273] [KO:K14365] (EDMD7) TMEM43 [HSA:79188] [KO:K27488] |
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H00591 | Facioscapulohumeral muscular dystrophy | Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially ... | Nervous system disease; Musculoskeletal disease |
(FSHD1) FRG1 [HSA:2483] [KO:K13122] (FSHD2) SMCHD1 [HSA:23347] [KO:K23113] (FSHD3) LRIF1 [HSA:55791] [KO:K23220] (FSHD4) DNMT3B [HSA:1789] [KO:K17399] |
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H00656 | Scapuloperoneal myopathy | Scapuloperoneal syndrome encompasses a heterogeneous group of neuromuscular disorders all characterized by slowly progressive weakness in the shoulder-girdle and peroneal muscles. Both neurogenic and myopathic ... | Nervous system disease; Musculoskeletal disease |
(SPMM) MYH7 [HSA:4625] [KO:K17751] (SCPNK) DES [HSA:1674] [KO:K07610] (SPM) FHL1 [HSA:2273] [KO:K14365] |
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H00697 | X-linked myopathy with postural muscle atrophy | ... atrophy (XMPMA) is characterized by the combined presentation of weakness and atrophy of postural muscles (scapuloperoneal weakness and bent spine) with a pseudoathletic phenotype where alternative muscle groups ... | Nervous system disease; Musculoskeletal disease | FHL1 [HSA:2273] [KO:K14365] | |
H00703 |
Myosin storage myopathy Hyaline body myopathy |
... occasionally middle age. Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency. MSM has been associated with 4 missense mutations ... | Nervous system disease; Musculoskeletal disease | MYH7 [HSA:4625] [KO:K17751] | |
H00873 |
Cousin syndrome Pelviscapular dysplasia |
Cousin syndrome arises from errors of morphogenesis. It is characterized by scapular and pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial ... | Congenital malformation | TBX15 [HSA:6913] [KO:K10182] | |
H02463 | Syndromic intellectual developmental disorder | Syndromic intellectual developmental disorder (IDD) is a group of disorders characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital ... | Mental and behavioural disorder |
(IDDRP) SCAPER [HSA:49855] [KO:K24869] (IDDCA) GNB5 [HSA:10681] [KO:K04539] (IDDCDF) TMEM94 [HSA:9772] [KO:K25291] (IDDFP) BRPF1 [HSA:7862] [KO:K11348] (IDDFSDA) OTUD6B [HSA:51633] [KO:K18342] (IDDGIP) PPM1D [HSA:8493] [KO:K10147] (DILOS) BCL11A [HSA:53335] [KO:K22045] (IDDBCS) PHF21A [HSA:51317] [KO:K24651] (IDDFBA) FBXO11 [HSA:80204] [KO:K10297] (IDDEBF) ALG14 [HSA:199857] [KO:K07441] (IDDHDF) CCNK [HSA:8812] [KO:K23326] (IDDHBA) CDK8 [HSA:1024] [KO:K02208] (IDDMSSD) PAK1 [HSA:5058] [KO:K04409] (IDDNPF) SLC45A1 [HSA:50651] [KO:K15378] (IDDECA) RORA [HSA:6095] [KO:K08532] (IDDSELD) SETD1B [HSA:23067] [KO:K11422] (IDDHISD) TNPO2 [HSA:30000] [KO:K18727] (IDDSSAD) ACTL6B [HSA:51412] [KO:K11652] (IDDFSTA) BCL11B [HSA:64919] [KO:K22046] (FHEIG) KCNK4 [HSA:50801] [KO:K04915] (HIDEA) P4HTM [HSA:54681] [KO:K06711] (IDPOGSA) ABCA2 [HSA:20] [KO:K05642] (IDDHISD) TNPO2 [HSA:30000] [KO:K18727] (IDDPADS) PDE2A [HSA:5138] [KO:K18283] (IDDSAPN) NEMF [HSA:9147] [KO:K24971] (CAGS) ANKRD17 [HSA:26057] [KO:K16726] (MRFACD) MED13L [HSA:23389] [KO:K15164] (IDDMDS) LGI3 [HSA:203190] [KO:K19999] (IDDOF) MTSS2 [HSA:92154] [KO:K20128] (IDDPN) NUDT2 [HSA:318] [KO:K01518] |
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H02674 | Atrial standstill | ... persistent absence of electrical and mechanical activity in the atria. On surface electrocardiogram, AS is distinguished by absence of the P wave, bradycardia, and junctional or ventricular escape rhythm. | Cardiovascular disease |
(ATRST1) GJA5 [HSA:2702] [KO:K07614] (ATRST2) NPPA [HSA:4878] [KO:K12334] |
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H02721 | Scapulohumeroperoneal myopathy | Scapulohumeroperoneal myopathy (SHPM) is an autosomal dominant slowly progressive scapuloperoneal neuromuscular disorder. Clinical characteristics include mild lower facial weakness, foot drop due to foot ... | Nervous system disease; Musculoskeletal disease | ACTA1 [HSA:58] [KO:K10354] |
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