| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Congenital myopathy 2A, typical - (AD) | 3.1 | | | Alpha actin, skeletal muscle
|
|
|  | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Congenital myopathy 2A, typical - CMYP2A | | * Congenital myopathy 2B, severe infantile - CMYP2B | | * Left ventricular noncompaction 4 - LVNC4 | | * Congenital myopathy 2C, severe infantile, dominant - CMYP2C | | * Congenital muscular dystrophy with rigid spine related to ACTA1 | | * Nemaline myopathy 3 - NEM3 |
|
| Congenital myopathy 2B, severe infantile - (AD) | 3.2 | | | Alpha actin, skeletal muscle
|
|
| | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Congenital myopathy 2A, typical - CMYP2A | | * Congenital myopathy 2B, severe infantile - CMYP2B | | * Left ventricular noncompaction 4 - LVNC4 | | * Congenital myopathy 2C, severe infantile, dominant - CMYP2C | | * Congenital muscular dystrophy with rigid spine related to ACTA1 | | * Nemaline myopathy 3 - NEM3 |
|
| Congenital myopathy 4A, dominant - (AD) | 3.3 | | | | * Nemaline myopathy 1, autosomal dominant - NEM1 |
|
| Congenital myopathy 4B, recessive - (AR) | 3.4 | | | | * Nemaline myopathy 1, autosomal dominant - NEM1 |
|
| Nemaline myopathy 2 - (AR) | 3.5 | | | | * Distal myopathy with nebulin defect | | * Nemaline myopathy 2, autosomal recessive - NEM2 |
|
| Nemaline myopathy 4 - (AD) | 3.6 | | | | * Arthrogryposis, distal, type 1A - DA1A | | * arthrogryposis, distal, type 2B - DA2B | | * Cap myopathy, TPM2-related, included | | * Nemaline myopathy 4 - NEM4 |
|
| Nemaline myopathy 5 - (AR) | 3.7 | | | | * Nemaline myopathy 5 - NEM5 |
|
| Nemaline myopathy 6 - (AD) | 3.8 | | | Kelch repeat and BTB (POZ) domain containing 13
|
|
| | * Nemaline myopathy 6 - NEM6 | | * LGMD related to KBTBD13 |
|
| Nemaline myopathy 7 - (AR) | 3.9 | | | | * Nemaline myopathy - NEM7 |
|
| Nemaline myopathy 8 - (AR) | 3.10 | | | Kelch-like family member 40
|
|
| | * Severe autosomal-recessive nemaline myopathy - NEM8 |
|
| Nemaline myopathy 9 - (AR) | 3.11 | | | Kelch-like family member 41
|
|
| | * Nemaline myopathy - NEM9 |
|
| Nemaline myopathy 10 - (AR) | 3.12 | | | | * Nemaline myopathy - NEM10 |
|
| Nemaline myopathy 11 - (AE) | 3.13 | | | | * Hypertrophic cardiomyopathy related to cardiac myopalladin - CMH22 | | * Nemaline myopathy - NEM11 |
|
| Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - (AR) | 3.14 | | | | * Nemaline Myopathy with
Cardiomyopathy | | * Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - KFS4 |
|
| Congenital myopathy 20 - (AR) | 3.15 | | | | * Myopathy with nemaline bodies |
|
| Nemalin myopathy with distal arthrogryposis - (AR) | 3.16 | | | | * Arthrogryposis, distal, type 2B - DA2B | | * Nemalin myopathy with distal arthrogryposis |
|
| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Myopathy, centronuclear, X-linked - (XR) | 3.17 | | | | * Myotubular myopathy, X-linked - MTM1 |
|
| Myopathy centronuclear 1 - (AD) | 3.18 | | | | * Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB | | * Myopathy centronuclear, 1 - CNM1 | | * Lethal Congenital Contracture Syndrome 5 - LCCS5 |
|
| Myopathy centronuclear 2 - (AD) | 3.19 | | | | * Centronuclear myopathy 2 - CNM2 |
|
| Myopathy centronuclear 4 - (AD) | 3.20 | | | Coiled-coil domain-containing protein 78
|
|
| | * Centronuclear myopathy 4 - CNM4 |
|
| Myopathy centronuclear 5 - (AR) | 3.21 | | | | * Centronuclear myopathy 5 - CNM5 |
|
| Myopathy centronuclear 6 with fiber-type disproportion - (AR) | 3.22 | | | Mitogen-activated protein kinase kinase 20
|
|
| | * Centronuclear myopathy 6 with fiber-type disproportion - CNM6 |
|
| Centronuclear myopathy related to RYR1 - (AR) | 3.23 | | | 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 |
|
| Centronuclear myopathy (CNM) related to TTN - (AD) | 3.24 | | | | * 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 |
|
| Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - (AD) | 3.25 | | | 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 |
|
| Central core disease, recessive (transient multiminicore myopathy) - (AR) | 3.26 | | | 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 |
|
| Congenital myopathy 1B, recessive Minicore myopathy with external ophthalmoplegia - (AR) | 3.27 | | | 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 |
|
| Multiminicore disease (MmD) related to TTN - (AR) | 3.28 | | | | * 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 |
|
| Congenital myopathy 10A, severe variant - (AR) | 3.29 | | | Multiple EGF-like-domains 10
|
|
| | * Congenital myopathy 10A, severe variant - CMYP10A | | * Congenital myopathy 10B, mild variant - CMYP10B |
|
| Congenital myopathy 10B, mild variant - (AR) | 3.30 | | | Multiple EGF-like-domains 10
|
|
| | * Congenital myopathy 10A, severe variant - CMYP10A | | * Congenital myopathy 10B, mild variant - CMYP10B |
|
| Congenital myopathy 7A, myosin storage, autosomal dominant - (AD) | 3.31 | | | Myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
| | * Cardiomyopathy, dilated, 1S - CMD1S | | * Myopathy, distal 1 - MPD1 | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B | | * Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A | | * Left ventricular noncompaction 5 - LVNC5 | | * Myopathy, myosin storage, autosomal dominant - MSMB | | * Myosin storage myopathy |
|
| Congenital myopathy 7B, myosin storage, autosomal recessive - (AD) | 3.32 | | | Myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
| | * Cardiomyopathy, dilated, 1S - CMD1S | | * Myopathy, distal 1 - MPD1 | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B | | * Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A | | * Left ventricular noncompaction 5 - LVNC5 | | * Myopathy, myosin storage, autosomal dominant - MSMB | | * Myosin storage myopathy |
|
| Myopathy, myosin storage, autosomal dominant (eccentric core disease) - (AR) | 3.33 | | | Myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
| | * Cardiomyopathy, dilated, 1S - CMD1S | | * Myopathy, distal 1 - MPD1 | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B | | * Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A | | * Left ventricular noncompaction 5 - LVNC5 | | * Myopathy, myosin storage, autosomal dominant - MSMB | | * Myosin storage myopathy |
|
| Congenital myopathy 6 with ophtalmoplegia - (AD/AR) | 3.34 | | | Myosin, heavy polypeptide 2, skeletal muscle
|
|
| | * Congenital myopathy 6 with ophtalmoplegia - CMYP6 |
|
| Isolated inclusion body myopathy - (AD) | 3.35 | | | Heterogeneous nuclear ribonucleoprotein A1
|
|
| | * Isolated inclusion body myopathy - IBMPFD3 | | * Amyotrophic lateral sclerosis 20 - ALS20 | | * Myopathy, Distal 3 - MPD3 |
|
| Congenital myopathy 23 - (AD) | 3.36 | | | | * Arthrogryposis, distal, type 1A - DA1A | | * arthrogryposis, distal, type 2B - DA2B | | * Cap myopathy, TPM2-related, included | | * Nemaline myopathy 4 - NEM4 |
|
| Congenital myopathy 2C, severe infantile, dominant - (AD) | 3.37 | | | Alpha actin, skeletal muscle
|
|
| | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Congenital myopathy 2A, typical - CMYP2A | | * Congenital myopathy 2B, severe infantile - CMYP2B | | * Left ventricular noncompaction 4 - LVNC4 | | * Congenital myopathy 2C, severe infantile, dominant - CMYP2C | | * Congenital muscular dystrophy with rigid spine related to ACTA1 | | * Nemaline myopathy 3 - NEM3 |
|
| Cap myopathy - (AD) | 3.38 | | | Alpha actin, skeletal muscle
|
|
| | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Congenital myopathy 2A, typical - CMYP2A | | * Congenital myopathy 2B, severe infantile - CMYP2B | | * Left ventricular noncompaction 4 - LVNC4 | | * Congenital myopathy 2C, severe infantile, dominant - CMYP2C | | * Congenital muscular dystrophy with rigid spine related to ACTA1 | | * Nemaline myopathy 3 - NEM3 |
|
| Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - (AR) | 3.39 | | | | * 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 |
|
| Congenital skeletal myopathy and fatal cardiomyopathy - (AR) | 3.40 | | | Cardiac myosin binding protein-C
|
|
| | * Cardimyopathy, dilated, 1A - CMD1A | | * Dilated cardiomyopathy related to MYBPC3 | | * congenital skeletal myopathy and fatal cardiomyopathy | | * Left ventricular noncompaction 10 - LVNC10 | | * Cardiomyopathy, familial hypertrophic, 4 - CMH4 |
|
| Congenital myopathy 12 - (AR) | 3.41 | | | | * Congenital myopathy 12 - CMYP12 |
|
| Sarcotubular myopathy - (AR) | 3.42 | | | Tripartite motif-containing 32
|
|
| | * Sarcotubular myopathy | | * Muscular dystrophy, limb-girdle, type 2H - LGMD2H |
|
| Congenital Myopathy 11 - (AR) | 3.43 | | | Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase
|
|
| | * Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6 | | * Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 | | * Congenital Myopathy 11 - CMYP11 |
|
| Congenital myopathy with ophthalmoplegia related to CACNA1S - (AR) | 3.44 | | | Calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
| | * Hypokalemic periodic paralysis - CACNL1A3 | | * Congenital myopathy with ophthalmoplegia related to CACNA1S | | * Malignant hyperthermia susceptibility 5 - MHS5 | | * Hypokalaemic periodic paralysis, type 1 - hypoKPP1 |
|
| Neurodevelopmental disorder with hypotonia, neuropathy and deafness - (AR) | 3.45 | | | Spectrin, Beta, Nonerythrocytic, 4
|
|
| | * Myopathy, Congenital, With Neuropathy And Deafness - CMND |
|
| Myopathy, congenital, With excess of muscle spindles - (AD) | 3.46 | | | V-Ha-RAS Harvey Rat Sarcoma Viral
|
|
| | * Myopathy, congenital, With excess of muscle spindles - CMEMS |
|
| Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - (AR) | 3.47 | | | | * Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - CFZS |
|
| Congenital myopathy 8 - (AD) | 3.48 | | | | * Hypertrophic cardiomyopathy related to actinin-2 | | * dilated cardiomyopathy, 1aa - CMD1AA | | * Myopathy, distal 6, Adult-onset - MPD6 | | * Congenital myopathy 8 - CMYP8 |
|
| Congenital myopathy 9A - (AR) | 3.49 | | | | * Congenital myopathy 9A - CMYP9A | | * Congenital myopathy 9B, proximal with minicore - CMYP9B |
|
| Congenital myopathy 9B, proximal with minicore - (AR) | 3.50 | | | | * Congenital myopathy 9A - CMYP9A | | * Congenital myopathy 9B, proximal with minicore - CMYP9B |
|
| Congenital myopathy 13 - (AR) | 3.51 | | | SH3 and cysteine rich domain 3
|
|
| | * Congenital myopathy 13 - CMYP13 | | * Myopathy, congenital, with malignant hyperthermia susceptibility |
|
| Myopathy, congenital, with malignant hyperthermia susceptibility - (AR) | 3.52 | | | SH3 and cysteine rich domain 3
|
|
| | * Congenital myopathy 13 - CMYP13 | | * Myopathy, congenital, with malignant hyperthermia susceptibility |
|
| Congenital myopathy 14 - (AR) | 3.53 | | | Myosin, light polypeptide 1, alkali, skeletal fast
|
|
| | * Congenital myopathy 14 - CMYP14 |
|
| Congenital myopathy 15 - (AD) | 3.54 | | | | * Congenital myopathy 15 - CMYP15 |
|
| Congenital myopathy 16 - (AD) | 3.55 | | | Myosin-binding proteinC, slow type
|
|
| | * Arthrogryposis, distal, type 1B - DA1B | | * Lethal Congenital Contracture Syndrome 4 - LCCS4 | | * Congenital myopathy 16 - CMYP16 |
|
| Congenital myopathy 17 - (AR) | 3.56 | | | Myogenic Differentiation Antigen 1
|
|
| | * Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies - MYODRIF |
|
| Congenital myopathy 18 due to dihydropyridine receptor defect - (AD, AR) | 3.57 | | | Calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
| | * Hypokalemic periodic paralysis - CACNL1A3 | | * Congenital myopathy with ophthalmoplegia related to CACNA1S | | * Malignant hyperthermia susceptibility 5 - MHS5 | | * Hypokalaemic periodic paralysis, type 1 - hypoKPP1 |
|
| Congenital myopathy 19 - (AR) | 3.58 | | | | * Myopathy, congenital, progressive with scoliosis - MYOSCO |
|
| Congenital Myopathy 22A, classic - (AR) | 3.59 | | | Sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Myotonia potassium-aggravatd | | * Sodium-channel myasthenia | | * Myasthenic syndrome, acetazolamide-responsive | | * Myasthenic syndrome, congenital, 16 - CMS16 | | * Severe foetal hypokinesia related to SCN4A | | * Congenital Myopathy 22B, severe fetal - CMYP22B | | * Congenital Myopathy 22A, classic - CMYP22A | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia |
|
| Congenital Myopathy 22B, severe fetal - (AR) | 3.60 | | | Sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Myotonia potassium-aggravatd | | * Sodium-channel myasthenia | | * Myasthenic syndrome, acetazolamide-responsive | | * Myasthenic syndrome, congenital, 16 - CMS16 | | * Severe foetal hypokinesia related to SCN4A | | * Congenital Myopathy 22B, severe fetal - CMYP22B | | * Congenital Myopathy 22A, classic - CMYP22A | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia |
|
| Congenital Myopathy related to PYROXD1 - (AR) | 3.61 | | | Pyridine nucleotidedisulphide oxidoreductase domain 1
|
|
| | * Early-onset myofibrillar myopathy with PYRODX1 defect | | * LGMD related to PYROXD1 | | * Congenital Myopathy related to PYROXD1 |
|
| Congenital Myopathy related to TNPO3 - (AD) | 3.62 | | | | * Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F | | * Congenital Myopathy related to TNPO3 |
|
| Congenital amyotrophy - (AR) | 3.63 | | | Calcium channel, voltage-dependent, T type, aplpha-1H subunit
|
|
| |
| Dusty core disease related to RYR1 - (AR) | 3.64 | | | 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 |
|
| Lysosomal storage myopathy - (AR) | 3.65 | | | | * Lysosomal storage myopathy - ML4 |
|
| Congenital myopathy 25 - (AR) | 3.66 | | | | * Congenital myopathy 25 - CMYO25 |
|
| Congenital myopathy with Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction - (AR) | 3.67 | | | | * Congenital myopathy with Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction |
|
