Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Myasthenic syndrome, congenital, 1A, Slow-channel - (AD) | 11.1 | | | Cholinergic receptor, nicotinic, alpha polypeptide 1
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency | | * Myasthenic syndrome, congenital, 1B, Fast-channel - CMS1B | | * Myasthenic syndrome, congenital, 1A, Slow-channel - CMS1A |
|
Myasthenic syndrome, congenital, 2A, Slow-channel - (AD) | 11.2 | | | Cholinergic receptor, nicotinic, beta 1 muscle
|
|
| | * Myasthenic syndrome, congenital, Ie, included - CMS1E | | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B | | * Myasthenic syndrome, congenital, 2A, Slow-channel - CMS2A |
|
Myasthenic syndrome, congenital, 3A, Slow-channel - (AD) | 11.3 | | | Cholinergic receptor, nicotinic, delta
|
|
| | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, congenital, 3B, Fast-channel - CMS3B |
|
Myasthenic syndrome, congenital, 4A, Slow-channel - (AD, AR) | 11.4 | | | Cholinergic receptor, nicotinic, epsilon
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - CMS4C |
|
Myasthenic syndrome, congenital, 1B, Fast-channel - (AR) | 11.5 | | | Cholinergic receptor, nicotinic, alpha polypeptide 1
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency | | * Myasthenic syndrome, congenital, 1B, Fast-channel - CMS1B | | * Myasthenic syndrome, congenital, 1A, Slow-channel - CMS1A |
|
Myasthenic syndrome, congenital, 2B, Fast-channel - (AR) | 11.6 | | | Cholinergic receptor, nicotinic, beta 1 muscle
|
|
| | * Myasthenic syndrome, congenital, Ie, included - CMS1E | | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B | | * Myasthenic syndrome, congenital, 2A, Slow-channel - CMS2A |
|
Myasthenic syndrome, congenital, 3B, Fast-channel - (AR) | 11.7 | | | Cholinergic receptor, nicotinic, delta
|
|
| | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, congenital, 3B, Fast-channel - CMS3B |
|
Myasthenic syndrome, congenital, 4B, Fast-channel - (AR) | 11.8 | | | Cholinergic receptor, nicotinic, epsilon
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - CMS4C |
|
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency - (AR) | 11.9 | | | Cholinergic receptor, nicotinic, beta 1 muscle
|
|
| | * Myasthenic syndrome, congenital, Ie, included - CMS1E | | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B | | * Myasthenic syndrome, congenital, 2A, Slow-channel - CMS2A |
|
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency - (AR) | 11.10 | | | Cholinergic receptor, nicotinic, delta
|
|
| | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, congenital, 3B, Fast-channel - CMS3B |
|
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - (AR) | 11.11 | | | Cholinergic receptor, nicotinic, epsilon
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - CMS4C |
|
Myasthenic syndrome, congenital, 5 - (AR) | 11.12 | | | Acetylcholinesterase collagen-like tail subunit
|
|
| | * Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD | | * Myasthenic syndrome, congenital, 5 - CMS5 |
|
Myasthenic syndrome, congenital, 6, presynaptic - (AR) | 11.13 | | | Choline acetyltransferase isoform
|
|
| | * Myasthenia gravis, autosomal recessive - MGI | | * Myasthenia gravis, familial infantile - FIMG | | * Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA | | * Myasthenia gravis, familial infantile, 2 - FIMG2 | | * Myasthenic syndrome, congenital, 6, presynaptic - CMS6 |
|
Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - (AD) | 11.14 | | | | * Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC | | * Distal motor neuropathy related to SYT2 | | * Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B | | * Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - CMS7A |
|
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive - (AR) | 11.15 | | | | * Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC | | * Distal motor neuropathy related to SYT2 | | * Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B | | * Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - CMS7A |
|
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects - (AR) | 11.16 | | | | * Familial limb girdle myasthenia related to agrin - CMS1B | | * Fetal akinesia deformation related to AGRN |
|
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - (AR) | 11.17 | | | Muscle, skeletal, receptor tyrosine kinase
|
|
| | * Congenital myasthenic syndrome related to MuSK - CMS1B | | * Fetal akinesia deformation sequance with MUSK defect - FADS1 | | * Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - CMS9 |
|
Myasthenic syndrome, congenital, 10 - (AR) | 11.18 | | | | * Familial limb-girdle myasthenia related to DOK7 - CMS1B | | * Fetal akinesia deformation sequence 3 - FADS3 | | * Myasthenic syndrome, congenital, 10 - CMS10 |
|
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - (AR) | 11.19 | | | | * Myasthenic syndrome, congenital - CMS1D | | * Fetal akinesia deformation sequence 2 - FADS2 | | * Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11 |
|
Myasthenia, congenital, 12, with tubular aggregates - (AR) | 11.20 | | | Glutamine-fructose-6-phosphate transaminase 1
|
|
| | * Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 | | * Myasthenia, congenital, 12, with tubular aggregates - CMS12 |
|
Myasthenic syndrome, congenital, 13, with tubular aggregates - (AR) | 11.21 | | | Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
| | * Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 - CMSTA2 | | * Myasthenic syndrome, congenital, 13, with tubular aggregates - CMS13 |
|
Myasthenic syndrome, congenital, 14, with tubular aggregates - (AR) | 11.22 | | | Alpha-1,3/1,6-mannosyltransferase
|
|
| | * Myasthenic syndrome, congenital, 14, with tubular aggregates - CMS14 |
|
Myasthenic syndrome, congenital, 15, without tubular aggregates - (AR) | 11.23 | | | UDP-N-acetylglucosaminyltransferase
|
|
| | * Myasthenic syndrome, congenital, 15, without tubular aggregates - CMS15 |
|
Myasthenic syndrome, congenital, 16 - (AR) | 11.24 | | | 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 |
|
Myasthenic syndrome, congenital, 17 - (AR) | 11.25 | | | LDL receptor related protein 4
|
|
| | * Congenital myasthenic syndrome - CMS17 |
|
Myasthenic syndrome, congenital, 18 - (AD) | 11.26 | | | Synaptosome associated protein 25
|
|
| | * Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18 |
|
Congenital myasthenic syndrome type 19 - (AR) | 11.27 | | | Collagen type XIII alpha 1 chain
|
|
| | * Congenital myasthenic syndrome type 19 - CMS19 |
|
Myasthenic syndrome, congenital, 20, presynaptic - (AR) | 11.28 | | | Solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
| | * Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) - HMND7 | | * Congenital myasthenic syndrome with episodic apnea - CMS20 |
|
Myasthenic syndrome, congenital, 21, presynaptic - (AR) | 11.29 | | | Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3
|
|
| | * Myasthenic Syndrome, Congenital, 21, Presynaptic - CMS21 |
|
Myasthenic syndrome, congenital, 22 | 11.30 | | | Prolyl endopeptidase-like
|
|
| | * Myasthenic syndrome, congenital, 22 - CMS22 |
|
Myasthenic syndrome, congenital, 23, presynaptic - (AR) | 11.31 | | | Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M)
|
|
| | * Presynaptic congenital myasthenic syndrome 23 - CMS23 |
|
Myasthenic syndrome, congenital, 24, presynaptic - (AR) | 11.32 | | | | * Presynaptic congenital myasthenic syndrome 24 - CMS24 |
|
Myasthenic syndrome, congenital, 25 - (AR) | 11.33 | | | Vesicle associated membrane protein (synaptobrevin 1)(M)
|
|
| | * ataxia, spastic, 1, autosomal dominant - SPAX1 | | * Presynaptic congenital myasthenic syndrome 25 - CMS25 |
|
Congenital myasthenic syndrome with nephrotic syndrome - (AR) | 11.34 | | | Laminin, beta 2 (laminin S)
|
|
| | * Congenital myasthenic syndrome with nephrotic syndrome - NPHS5 |
|
Escobar syndrome (multiple pterygium syndrome) - (AR) | 11.35 | | | Cholinergic receptor, nicotinic, gamma polypeptide
|
|
| | * Escobar syndrome (multiple pterygium syndrome) - EVMPS |
|
Myasthenic syndrome, with plectin defect - (AR) | 11.36 | | | | * 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 |
|
Congenital Myasthenic syndrome related to GMPPB - (AR) | 11.37 | | | GDP-mannose pyrophosphorylase B
|
|
| | * Muscle-eye-brain disease - MDDGA14 | | * Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 | | * Congenital Myasthenic syndrome related to GMPPB |
|
Presynaptic congenital myasthenic syndrome - (AR) | 11.38 | | | | * Presynaptic congenital myasthenic syndrome |
|
Presynaptic congenital myasthenic syndrome related to MUNC13-1 - (AR) | 11.39 | | | Unc-13 homolog A (C. elegans)
|
|
| | * Presynaptic congenital myasthenic sydrome related to MUNC13-1 |
|
Congenital myasthenic syndrome related to RPH3A - (AR) | 11.40 | | | | * Congenital myasthenic syndrome related to RPH3A |
|
Congenital myasthenic syndrome - (AR) | 11.41 | | | Torsin A interacting protein 1
|
|
| | * LAP1B related muscular dystrophy | | * Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y | | * Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC | | * Congenital myasthenic syndrome |
|
Congenital myasthenic syndrome - (AD) | 11.42 | | | Chromodomain Helicase DNA-Binding Protein 8
|
|
| | * Congenital myasthenic syndrome |
|
Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency - (AR) | 11.43 | | | Cholinergic receptor, nicotinic, alpha polypeptide 1
|
|
| | * Myasthenic syndrome, fast-channel congenital - FCCMS | | * Myasthenic syndrome, slow-channel congenital - SCCMS | | * Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency | | * Myasthenic syndrome, congenital, 1B, Fast-channel - CMS1B | | * Myasthenic syndrome, congenital, 1A, Slow-channel - CMS1A |
|
Myopathy, cardiomyopathy and congenital myasthenic syndrome - (AR) | 11.44 | | | | * 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 |
|