| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Myofibrillar myopathy 1 - (AD) | 5.1 | | |  | * Desmin-related myopathy - DRM | | * Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R | | * Dilated cardiomyopathy, 1I - CMD1I | | * Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 | | * Myofibrillar myopathy 1 - MFM1 | | * Myopathy, cardiomyopathy and congenital myasthenic syndrome | | * Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E |
|
| Myofibrillar myopathy 2 - (AD) | 5.2 | | | | * Dilated cardiomyopathy related to alpha-crystallin | | * Myofibrillar myopathy, alpha-B crystallin related | | * Myopathy, myofibrillar, 2 - MFM2 | | * Charcot-Marie-Tooth disease, axonal, related to CRYAB - CMT2 |
|
| Myofibrillar myopathy 3 - (AD) | 5.3 | | | | * Myofibrillar myopathy, myotilin related - MFM3 | | * Spheroid body myopathy | | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A |
|
| Spheroid body myopathy - (AD) | 5.4 | | | | * Myofibrillar myopathy, myotilin related - MFM3 | | * Spheroid body myopathy | | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A |
|
| Myofibrillar myopathy 4 - (AD) | 5.5 | | | | * myofibrillar myopathy ZASP-related - MFM4 | | * cardiomyopathy, dilated 1C - CMD1C | | * Hypertrophic cardiomyopathy related to ZASP - CMH24 | | * Left ventricular noncompaction 3 - LVNC3 |
|
| Myofibrillar myopathy 5 - (AD, AR) | 5.6 | | | Filamin C, gamma (actin-binding protein - 280)
|
|
| | * Myopathy, myofibrillar, filamin C-related - MFM5 | | * Myopathy, distal, 4 - MPD4 | | * Cardiomyopathy, familial hypertrophic, 26 - CMH26 |
|
| Myofibrillar myopathy 6 - (AD) | 5.7 | | | BCL2-associated athanogene 3
|
|
| | * myofibrillar myopathy with bag3 defect | | * Dilated cardiomyopathy related to BAG3 - CMD1HH | | * Charcot-Marie-Tooth disease, axonal, related to BAG3 |
|
| Myofibrillar myopathy 7 - (AR) | 5.8 | | | | * Myopathy microfibrillar type 7 - MFM7 |
|
| Myofibrillar myopathy 8 - (AR) | 5.9 | | | Pyridine nucleotidedisulphide oxidoreductase domain 1
|
|
| | * Early-onset myofibrillar myopathy with PYRODX1 defect | | * LGMD related to PYROXD1 | | * Congenital Myopathy related to PYROXD1 |
|
| Myofibrillar myopathy 9 with early respiratory failure - (AD) | 5.10 | | | | * Hereditary myopathy with early respiratory failure - HMERF | | * Cardiomyopathy, familial hypertrophic, 9 - CMH9 | | * Congenital myopathy with fatal cardiomyopathy | | * Cardiomyopathy, dilated, 1G - CMD1G | | * Centronuclear myopathy related to TTN | | * LGMDR10 (Formerly LGMD2J) | | * Lethal Congenital Contracture Syndrome related to TTN | | * Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY) | | * Autosomal dominant myopathy with proximal muscle weakness and early respiratory | | * Tibial muscular dystrophy, tardive - TMD | | * Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J |
|
| Myofibrillar myopathy 10 - (AR) | 5.11 | | | | * Myofibrillar myopathy 10 - MFM10 |
|
| Myofibrillar myopathy 11 - (AR) | 5.12 | | | | * Myofibrillar myopathy 11 - MFM11 |
|
| Desmin-related myopathy with Mallory bodies - (AD) | 5.13 | | | | * Multiminicore disease, classical form | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Rigid spine syndrome related to SEPN1 - RSS | | * Rigid spine syndrome - RSMD1 | | * Congenital myopathy 3 with rigid spine - CMYO3 | | * Muscular dystrophy, rigid spine, 1 - RSMD1 | | * Desmin-related myopathy with Mallory bodies - RSMD1 |
|
| Cardiac and skeletal aggregate myopathy - (Digenic) | 5.14 | | | Tripartite motif-containing 54
|
| | Tripartite motif containing 63, E3 ubiquitin protein ligase
|
|
| | * Cardiac and skeletal aggregate myopathy | | * Cardiac and skeletal aggregate myopathy |
|
| Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARCV7) - (AD) | 5.15 | | | | * Desmin-related myopathy - DRM | | * Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R | | * Dilated cardiomyopathy, 1I - CMD1I | | * Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 | | * Myofibrillar myopathy 1 - MFM1 | | * Myopathy, cardiomyopathy and congenital myasthenic syndrome | | * Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E |
|
| Congenital myopathy 21 with early respiratory failure - (AR) | 5.16 | | | DNAJ/HSP40 homolog, subfamily B, member 4
|
|
| | * Myopathy with early respiratory failure |
|
| Neuromuscular disorder, congenital, with dysmorphic facies - (AR) | 5.17 | | | Filamin A-interacting protein 1
|
|
| | * Neuromuscular disorder, congenital, with dysmorphic facies - NMDF |
|
| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Danon disease - (XD) | 5.18 | | | Lysosomal-associated membrane protein 2 precursor
|
|
| | * Danon disease | | * Glycogen storage disease IIb - GSD2B |
|
| Myopathy with excessive autophagia - (XR) | 5.19 | | | VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)
|
|
| | * Myopathy, X-linked, with excessive autophagy - XMEA |
|
| Autophagic vacuolar myopathy - (AR) | 5.20 | | | Ceroid-lipofuscinosis, neuronal 3 (=battenin)
|
|
| | * Autophagic vacuolar myopathy - CLN3 |
|
| Oculopharyngeal muscular dystrophy - (AD) | 5.21 | | | Poly(A) binding protein, nuclear 1
|
|
| | * Oculopharyngeal muscular dystorphy - OPMD |
|
| Oculopharyngeal muscular dystrophy 2 - (AD) | 5.22 | | | Hetergeneous nuclear ribonucleoprotein A2/B1
|
|
| | * Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 | | * Oculopharyngeal muscular dystrophy related to HNRNPA2B1 |
|
| Oculopharyngodistal myopathy 1 - (AD) | 5.23 | | | Low density lipoprotein receptor-related protein 12
|
|
| | * Oculopharyngodistal myopathy 1 - OPDM1 | | * Amyotrophic lateral sclerosis 28 - ALS28 |
|
| Oculopharyngodistal myopathy 2 - (AD) | 5.24 | | | GIPC PDZ Domain-containing family, member 1
|
|
| | * Oculopharyngodistal myopathy 2 - OPDM2 |
|
| Oculopharyngodistal myopathy 3 - (AD) | 5.25 | | | Notch2 N-terminal-like protein
|
|
| | * Neuronal intranuclear inclusion diseases - NIID | | * Oculopharyngodistal myopathy | | * Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC - CMT2 |
|
| Oculopharyngodistal myopathy 4 - (AD) | 5.26 | | | Rab-interacting lysosomal protein-like 1
|
|
| | * Oculopharyngodistal myopathy 4 - OPDM4 |
|
| Oculopharyngodistal myopathy 5 - (AD) | 5.27 | | | ATP-binding cassette, subfamily D, member 3
|
|
| | * Oculopharyngodistal myopathy 5 - OPDM5 |
|
| Oculopharyngeal myopathy with leukoencephalopathy 1 - (AD) | 5.28 | | | | * Oculopharyngeal myopathy with leukoencephalopathy 1 - OPML1 |
|
| Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - (AR) | 5.29 | | | | * Limb-girdle, muscular dystrophy, type 2q - LGMD2Q | | * Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS | | * Myasthenic syndrome, with plectin defect | | * Limb girdle muscular dystrophy with ophthalmoplegia |
|
| Muscle hypertrophy - (AR) | 5.30 | | | | * Muscle hypertrophy - MSLHP |
|
| Fibrodysplasia ossificans progressiva - (AD) | 5.31 | | | Activin A receptor, type II-like kinase 2
|
|
| | * Fibrodysplasia ossificans progressiva - FOP |
|
| Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) - (AD) | 5.32 | | | | * Myopathy distal, Tateyama type - MPDT | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) | | * Rippling muscle disease - RMD2 | | * Long QT syndrome 9 - LQT9 | | * Muscular dystrophy, limb-girdle, type IC - LGMD1C | | * Hyperckemia, idiopathic |
|
| X-linked myopathy with postural muscle atrophy - (XR) | 5.33 | | | Four and a half LIM domain 1
|
|
| | * Scapuloperoneal myopathy, X-linked dominant - SPM | | * Emery-dreifuss muscular dystrophy 6 - EDMD6 | | * X-linked myopathy with postural muscle atrophy - XMPMA | | * Myopathy, reducing body, X-linked, childhood-onset | | * Rigid spine syndrome related to FHL1 - RSS | | * Myopathy, reducing body, X-linked, severe early-onset | | * Rigid spine syndrome - RSMD1 |
|
| Scapuloperoneal myopathy - (XD) | 5.34 | | | Four and a half LIM domain 1
|
|
| | * Scapuloperoneal myopathy, X-linked dominant - SPM | | * Emery-dreifuss muscular dystrophy 6 - EDMD6 | | * X-linked myopathy with postural muscle atrophy - XMPMA | | * Myopathy, reducing body, X-linked, childhood-onset | | * Rigid spine syndrome related to FHL1 - RSS | | * Myopathy, reducing body, X-linked, severe early-onset | | * Rigid spine syndrome - RSMD1 |
|
| Reducing body myopathy (1A and 1B) - (XD) | 5.35 | | | Four and a half LIM domain 1
|
|
| | * Scapuloperoneal myopathy, X-linked dominant - SPM | | * Emery-dreifuss muscular dystrophy 6 - EDMD6 | | * X-linked myopathy with postural muscle atrophy - XMPMA | | * Myopathy, reducing body, X-linked, childhood-onset | | * Rigid spine syndrome related to FHL1 - RSS | | * Myopathy, reducing body, X-linked, severe early-onset | | * Rigid spine syndrome - RSMD1 |
|
| Episodic muscle weakness, X-linked - (XR) | 5.36 | | | | * episodic muscle weakness, x-linked - EMWX |
|
| Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia 1 - (AD) | 5.37 | | | Valosin-containing protein
|
|
| | * Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1 | | * Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD | | * Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 | | * Scapuloperoneal muscular dystrophy and dropped head syndrome | | * Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y |
|
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 - (AD) | 5.38 | | | Hetergeneous nuclear ribonucleoprotein A2/B1
|
|
| | * Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 | | * Oculopharyngeal muscular dystrophy related to HNRNPA2B1 |
|
| Myopathy with lactic acidosis, hereditary - (AR) | 5.39 | | | Iron-sulfur cluster scaffold homolog (E. coli)(M)
|
|
| | * myopathy with exercise intolerance, swedish type | | * myopathy with deficiency of succinate dehydrogenase and aconitase | | * myopathy with lactic acidosis, hereditary - HML |
|
| Late onset axial myopathy related to RYR1 - (AD) | 5.40 | | | Ryanodine receptor 1 (skeletal)
|
|
| | * centronuclear myopathy, recessive | | * minicore myopathy with external ophthalmoplegia | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Fetal akinesia deformation sequence related to RYR1 | | * Dusty core disease related to RYR1 - DuCD | | * Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A | | * Congenital myopathy 1B, recessive - CMYP1B | | * Malignant hyperthermia susceptibility 1 - MHS1 | | * Central core disease - CCD |
|
| Tubular aggregate myopathy 1 - (AD) | 5.41 | | | Stromal interaction molecule 1
|
|
| | * Tubular aggregate myopathy 1 - TAM1 | | * Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections |
|
| Tubular aggregate myopathy 2 - (AD) | 5.42 | | | ORAI calcium release-activated calcium modulator 1
|
|
| | * Tubular aggregate myopathy 2 - TAM2 |
|
| Vacuolar myopathy with CASQ1 aggregates - (AD) | 5.43 | | | Calsequestrin 1 (fast-twitch, skeletal muscle)(M)
|
|
| | * Vacuolar myopathy with CASQ1 aggregates - VMCQA |
|
| Myopathy, sarcoplasmic body - (AD) | 5.44 | | | | * Myopathy with characteristic sarcoplasmic inclusions |
|
| Myopathy with extrapyramidal signs - (AR) | 5.45 | | | Mitochondrial Calcium Uptake Protein 1
|
|
| | * Myopathy with extrapyramidal signs - MPXPS |
|
| Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections - (AR) | 5.46 | | | Stromal interaction molecule 1
|
|
| | * Tubular aggregate myopathy 1 - TAM1 | | * Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections |
|
| Wieacker-Wolff syndrome - (XLR) | 5.47 | | | Zinc Finger C4H2 domain-containing protein
|
|
| | * Wieacker-Wolff syndrome - WRWF |
|
| Intellectual disability and myopathy syndrome - (AR) | 5.48 | | | ATP-binding cassette, sub-family C (member 9)
|
|
| | * Cardiomyopathy, dilated, 1O - CMD1O | | * Atrial fibrillation , 12 - ATFB12 |
|
| Childhood-onset myopathy with hyperCKaemia - (AR) | 5.49 | | | Protein kinase C and casein kinase substrate in neuron 3
|
|
| | * Childhood-onset myopathy with hyperCKaemia |
|
