RGDs registry under the 'Neuromuscular disorders'
| Disorder Name (Total=68) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Duchenne muscular dystrophy X-linked dominant |
•Severe dystrophinopathy, Duchenne type •DMD •Muscular dystrophy, pseudohypertrophic progressive, Duchenne type |
Muscular dystrophies |
DMD dystrophin |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Spinal muscular atrophy 1 Autosomal recessive |
•Werdnig-Hoffmann disease •Muscular atrophy, infantile •SMA I |
Motor neuron disorders |
SMN1 survival of motor neuron 1, telomeric SMN2 survival of motor neuron 2, centromeric |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Motor neurone disease |
Motor neuron disorders |
C9orf72 C9orf72-SMCR8 complex subunit TARDBP TAR DNA binding protein |
Reports Updated as of Sep 15, 2022 |
PubMed | |
| Episodic ataxia Autosomal dominant |
Movement disorders |
CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 CACNA1A calcium voltage-gated channel subunit alpha1 A SLC1A3 solute carrier family 1 member 3 KCNA1 potassium voltage-gated channel subfamily A member 1 SCN2A sodium voltage-gated channel alpha subunit 2 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Congenital myopathy |
Skeletal muscle disorders |
TPM3 tropomyosin 3 TPM2 tropomyosin 2 ACTA1 actin alpha 1, skeletal muscle MEGF10 multiple EGF like domains 10 MYH7 myosin heavy chain 7 RYR1 ryanodine receptor 1 HACD1 3-hydroxyacyl-CoA dehydratase 1 SELENON selenoprotein N CCDC78 coiled-coil domain containing 78 MYL1 myosin light chain 1 CACNA1S calcium voltage-gated channel subunit alpha1 S MYL2 myosin light chain 2 TNNC2 troponin C2, fast skeletal type DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 SCN4A sodium voltage-gated channel alpha subunit 4 ASCC3 activating signal cointegrator 1 complex subunit 3 MYPN myopalladin |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Qualitative or quantitative defects of dysferlin Autosomal recessive |
•Dysferlinopathy |
Muscular dystrophies |
DYSF dysferlin |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Charcot-Marie-Tooth disease Autosomal dominant, Autosomal recessive, X-linked recessive, X-linked dominant |
•Charcot Marie Tooth |
Peripheral neuropathy |
FGD4 FYVE, RhoGEF and PH domain containing 4 MED25 mediator complex subunit 25 FIG4 FIG4 phosphoinositide 5-phosphatase MFN2 mitofusin 2 SH3TC2 SH3 domain and tetratricopeptide repeats 2 HSPB8 heat shock protein family B (small) member 8 SBF2 SET binding factor 2 GDAP1 ganglioside induced differentiation associated protein 1 KIF1B kinesin family member 1B PRX periaxin TRPV4 transient receptor potential cation channel subfamily V member 4 NDRG1 N-myc downstream regulated 1 LITAF lipopolysaccharide induced TNF factor YARS1 tyrosyl-tRNA synthetase 1 MTMR2 myotubularin related protein 2 DNM2 dynamin 2 RAB7A RAB7A, member RAS oncogene family HSPB1 heat shock protein family B (small) member 1 KARS1 lysyl-tRNA synthetase 1 PMP22 peripheral myelin protein 22 IGHMBP2 immunoglobulin mu DNA binding protein 2 GARS1 glycyl-tRNA synthetase 1 PRPS1 phosphoribosyl pyrophosphate synthetase 1 GJB1 gap junction protein beta 1 NEFL neurofilament light chain MPZ myelin protein zero LMNA lamin A/C EGR2 early growth response 2 RETREG1 reticulophagy regulator 1 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 INF2 inverted formin 2 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 AIFM1 apoptosis inducing factor mitochondria associated 1 HK1 hexokinase 1 GNB4 G protein subunit beta 4 SBF1 SET binding factor 1 PDK3 pyruvate dehydrogenase kinase 3 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 TRIM2 tripartite motif containing 2 COX6A1 cytochrome c oxidase subunit 6A1 GAN gigaxonin ARHGEF10 Rho guanine nucleotide exchange factor 10 MARS1 methionyl-tRNA synthetase 1 NAGLU N-acetyl-alpha-glucosaminidase DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 SPG11 SPG11 vesicle trafficking associated, spatacsin SURF1 SURF1 cytochrome c oxidase assembly factor VCP valosin containing protein MORC2 MORC family CW-type zinc finger 2 NEFH neurofilament heavy chain BSCL2 BSCL2 lipid droplet biogenesis associated, seipin MME membrane metalloendopeptidase ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 NTRK1 neurotrophic receptor tyrosine kinase 1 PMP2 peripheral myelin protein 2 MPV17 mitochondrial inner membrane protein MPV17 HINT1 histidine triad nucleotide binding protein 1 WNK1 WNK lysine deficient protein kinase 1 SPTLC2 serine palmitoyltransferase long chain base subunit 2 DNMT1 DNA methyltransferase 1 SEPTIN9 septin 9 CADM3 cell adhesion molecule 3 HSPB3 heat shock protein family B (small) member 3 KIF5A kinesin family member 5A SLC5A7 solute carrier family 5 member 7 JAG1 jagged canonical Notch ligand 1 POLR3B RNA polymerase III subunit B FBLN5 fibulin 5 SLC12A6 solute carrier family 12 member 6 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 DHX9 DExH-box helicase 9 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Amyotrophic lateral sclerosis Autosomal dominant, Autosomal recessive |
Motor neuron disorders |
FIG4 FIG4 phosphoinositide 5-phosphatase SETX senataxin ALS2 alsin Rho guanine nucleotide exchange factor ALS2 VAPB VAMP associated protein B and C TRPM7 transient receptor potential cation channel subfamily M member 7 TARDBP TAR DNA binding protein OPTN optineurin DCTN1 dynactin subunit 1 PRPH peripherin MATR3 matrin 3 SOD1 superoxide dismutase 1 FUS FUS RNA binding protein ANG angiogenin UBQLN2 ubiquilin 2 SIGMAR1 sigma non-opioid intracellular receptor 1 PFN1 profilin 1 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 TUBA4A tubulin alpha 4a NEK1 NIMA related kinase 1 ANXA11 annexin A11 KIF5A kinesin family member 5A SPG11 SPG11 vesicle trafficking associated, spatacsin ERBB4 erb-b2 receptor tyrosine kinase 4 PARK7 Parkinsonism associated deglycase DAO D-amino acid oxidase CHRNA3 cholinergic receptor nicotinic alpha 3 subunit SS18L1 SS18L1 subunit of BAF chromatin remodeling complex EWSR1 EWS RNA binding protein 1 NEFH neurofilament heavy chain VCP valosin containing protein TIA1 TIA1 cytotoxic granule associated RNA binding protein SPTLC1 serine palmitoyltransferase long chain base subunit 1 C9orf72 C9orf72-SMCR8 complex subunit UNC13A unc-13 homolog A |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Arthrogryposis multiplex congenita Autosomal dominant, Autosomal recessive, X-linked dominant |
SYNE1 spectrin repeat containing nuclear envelope protein 1 NEB nebulin ADGRG6 adhesion G protein-coupled receptor G6 TNNI2 troponin I2, fast skeletal type TNNT3 troponin T3, fast skeletal type TPM2 tropomyosin 2 MYH3 myosin heavy chain 3 LGI4 leucine rich repeat LGI family member 4 RYR1 ryanodine receptor 1 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 VPS13D vacuolar protein sorting 13 homolog D ACTA1 actin alpha 1, skeletal muscle CHRND cholinergic receptor nicotinic delta subunit CHRNG cholinergic receptor nicotinic gamma subunit BLTP1 bridge-like lipid transfer protein family member 1 ALDH5A1 aldehyde dehydrogenase 5 family member A1 ASAH1 N-acylsphingosine amidohydrolase 1 RAPSN receptor associated protein of the synapse SCN8A sodium voltage-gated channel alpha subunit 8 NALCN sodium leak channel, non-selective DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ADSS1 adenylosuccinate synthase 1 EARS2 glutamyl-tRNA synthetase 2, mitochondrial CNTNAP1 contactin associated protein 1 SCN4A sodium voltage-gated channel alpha subunit 4 PIEZO2 piezo type mechanosensitive ion channel component 2 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 SCYL2 SCY1 like pseudokinase 2 TOR1A torsin family 1 member A SENP7 SUMO specific peptidase 7 |
Reports Updated as of Mar 09, 2023 |
PubMed | ||
| Early-onset generalized limb-onset dystonia Autosomal dominant |
•Early-onset primary dystonia •Early-onset primary dystonia •Early-onset primary dystonia •Early onset primary dystonia |
TOR1A torsin family 1 member A |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Facioscapulohumeral muscular dystrophy Autosomal dominant |
•Landouzy-Dejerine dystrophy •FSH dystrophy |
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 DNMT3B DNA methyltransferase 3 beta LRIF1 ligand dependent nuclear receptor interacting factor 1 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| GNE myopathy Autosomal dominant, Autosomal recessive |
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
Reports Updated as of Mar 09, 2023 |
PubMed | ||
| Hirayama disease |
Motor neuron disorders |
CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 CEP126 centrosomal protein 126 |
Reports Updated as of May 24, 2023 |
PubMed | |
| Limb-girdle muscular dystrophy Autosomal dominant, Autosomal recessive |
•Leyden-Mbius muscular dystrophy •Leyden-Mobius muscular dystrophy •erb's muscular dystrophy •Limb girdle muscular dystrophy •LGMD |
Muscular dystrophies |
DYSF dysferlin ANO5 anoctamin 5 CAPN3 calpain 3 TTN titin SGCB sarcoglycan beta SGCD sarcoglycan delta MYOT myotilin POMT1 protein O-mannosyltransferase 1 SGCG sarcoglycan gamma POMK protein O-mannose kinase TRAPPC11 trafficking protein particle complex subunit 11 |
Reports Updated as of May 24, 2023 |
PubMed |
| Myasthenia gravis |
•Acquired myasthenia •Autoimmune myasthenia gravis |
CHAT choline O-acetyltransferase |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Pontocerebellar hypoplasia type 1 Autosomal recessive |
Motor neuron disorders |
VRK1 VRK serine/threonine kinase 1 EXOSC3 exosome component 3 CLP1 cleavage factor polyribonucleotide kinase subunit 1 CHMP1A charged multivesicular body protein 1A |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Steinert myotonic dystrophy syndrome Autosomal dominant |
•Steinert disease •Myotonic dystrophy 1 •Steinert myotonic dystrophy •Dystrophia myotonica •Myotonic dystrophy type 1 |
Muscular dystrophies |
DMPK DM1 protein kinase |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Myotonic dystrophy type 2 Autosomal dominant |
•Proximal myotonic myopathy •Myotonic dystrophy 2 •Proximal myotonic dystrophy •Ricker disease •Ricker syndrome |
Muscular dystrophies |
CNBP CCHC-type zinc finger nucleic acid binding protein |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Emery-Dreifuss muscular dystrophy X-linked dominant |
•Humeroperoneal neuromuscular disease |
Muscular dystrophies |
SYNE1 spectrin repeat containing nuclear envelope protein 1 FHL1 four and a half LIM domains 1 LMNA lamin A/C TMEM43 transmembrane protein 43 SYNE2 spectrin repeat containing nuclear envelope protein 2 SUN1 Sad1 and UNC84 domain containing 1 SUN2 Sad1 and UNC84 domain containing 2 EMD emerin |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Oculopharyngeal muscular dystrophy Autosomal dominant, Autosomal recessive |
•OPMD |
Muscular dystrophies |
PABPN1 poly(A) binding protein nuclear 1 ANXA11 annexin A11 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Guillain-Barre syndrome |
•GBS •Guillain-Barré syndrome |
Peripheral neuropathy |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Chronic inflammatory demyelinating polyneuropathy |
•CIDP •Chronic inflammatory demyelinating polyradiculoneuropathy |
Peripheral neuropathy |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Bethlem myopathy Autosomal dominant, Autosomal recessive |
•Bethlem myopathy 1 •Collagen 6-related myopathy •Ullrich congenital muscular dystrophy 1 |
Muscular dystrophies |
COL6A3 collagen type VI alpha 3 chain COL6A2 collagen type VI alpha 2 chain COL6A1 collagen type VI alpha 1 chain COL12A1 collagen type XII alpha 1 chain |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Central core myopathy Autosomal dominant |
•Central core disease •Muscle core disease •Shy-Magee syndrome |
Muscle tissue disorders |
RYR1 ryanodine receptor 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Severe congenital nemaline myopathy Autosomal recessive |
Muscle tissue disorders |
KLHL40 kelch like family member 40 |
Reports Updated as of Dec 29, 2023 |
PubMed | |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive |
•Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome •Sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) |
Peripheral neuropathy |
POLG DNA polymerase gamma, catalytic subunit TWNK twinkle mtDNA helicase |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Proximal myopathy with extrapyramidal signs Autosomal recessive |
•Myopathy with extrapyramidal signs |
Movement disorders |
MICU1 mitochondrial calcium uptake 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Muscle eye brain disease Autosomal recessive |
•Santavuori congenital muscular dystrophy •Muscle-eye-brain disease |
Muscular dystrophies |
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Monomelic amyotrophy |
•Hirayama disease •Spinal muscular atrophy juvenile nonprogressive •Juvenile muscular atrophy of the distal upper limb |
Motor neuron disorders |
SLIT1 slit guidance ligand 1 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Miyoshi muscular dystrophy Autosomal recessive |
•Miyoshi myopathy •Dysferlinopathy •Miyoshi distal myopathy |
Muscular dystrophies |
ANO5 anoctamin 5 DYSF dysferlin |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Distal arthrogryposis type 5D Autosomal recessive |
•ECEL1 distal arthrogryposis •distal arthrogryposis caused by mutation in ECEL1 •distal arthrogryposis type 5 without ophthalmoparesis •distal arthrogryposis type 5 without ophthalmoplegia •DA5D |
Muscle tissue disorders |
ECEL1 endothelin converting enzyme like 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Congenital myopathy with fiber type disproportion Autosomal dominant, Autosomal recessive, X-linked dominant |
•CFTDM •congenital fiber-type disproportion •congenital myopathy with fibre type disproportion •congenital fiber-type disproportion myopathy |
Skeletal muscle disorders |
SELENON selenoprotein N TPM3 tropomyosin 3 ACTA1 actin alpha 1, skeletal muscle MYH7 myosin heavy chain 7 RYR1 ryanodine receptor 1 MYL2 myosin light chain 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Progressive myositis ossificans Autosomal dominant |
•Fibrodysplasia ossificans progressiva •Stone man syndrome •FOP •myositis ossificans progressiva •progressive ossifying myositis •progressive myositis ossificans |
Skeletal muscle disorders |
ACVR1 activin A receptor type 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Lethal congenital contracture syndrome 9 Autosomal recessive |
Skeletal muscle disorders |
ADGRG6 adhesion G protein-coupled receptor G6 |
Reports Updated as of Feb 01, 2025 |
PubMed | |
| Kennedy disease X-linked recessive |
•Bulbo-spinal atrophy X-linked •spinal and bulbar muscular atrophy of Kennedy, X-linked recessive •spinal and bulbar muscular atrophy, X-linked type 1 •spinal bulbar muscular atrophy • spinobulbar muscular atrophy •X-linked BSMA •X-linked bulbo-spinal atrophy •X-linked bulbospinal amyotrophy •X-linked bulbospinal muscular atrophy •X-linked spinal and bulbar muscular atrophy •Bulbospinal neuronopathy X-linked recessive •Kennedy spinal and bulbar muscular atrophy •Spinal and bulbar muscular atrophy •Spinal and bulbar muscular atrophy X-linked |
AR androgen receptor |
Reports Updated as of Feb 01, 2025 |
PubMed | |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Autosomal recessive |
•Jankovic-Rivera syndrome •hereditary myoclonus-progressive distal muscular atrophy syndrome •hereditary myoclonus and progressive distal muscular atrophy •Spinal muscular atrophy with progressive myoclonic epilepsy •Jankovic Rivera syndrome |
Peripheral neuropathy |
ASAH1 N-acylsphingosine amidohydrolase 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Severe X-linked myotubular myopathy X-linked recessive |
•X-linked myotubular myopathy •X-linked centronuclear myopathy •myotubular myopathy 1 •myotubular myopathy, X-linked |
Skeletal muscle disorders |
DNM2 dynamin 2 MTM1 myotubularin 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Desmin-related myofibrillar myopathy Autosomal dominant, Autosomal recessive |
•Myofibrillar myopathy 1 •autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES •autosomal recessive limb-girdle muscular dystrophy type 2R •desmin-related myofibrillar myopathy •desminopathy •Desmin related myopathyMyofibrillar myopathy 1 •autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES •autosomal recessive limb-girdle muscular dystrophy type 2R •desmin-related myofibrillar myopathy •desminopathy •Desmin related myopathy |
Skeletal muscle disorders |
DES desmin TTN titin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Dejerine-Sottas disease Autosomal dominant, Autosomal recessive |
•Charcot-Marie-Tooth disease type 3 •Charcot-Marie-Tooth disease, type 3 •CMT3 •Dejerine-Sottas neuropathy •Dejerine-Sottas syndrome •Hereditary motor and sensory neuropathy type 3 •hereditary motor and sensory neuropathy type III •HMSN 3 •HMSN III •HMSN3 •hypertrophic neuropathy of Dejerine-Sottas |
Peripheral neuropathy |
PRX periaxin MPZ myelin protein zero PMP22 peripheral myelin protein 22 EGR2 early growth response 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Familial dysautonomia Autosomal recessive |
•Riley-day syndrome •dysautonomia, familial •familial dysautonomia •hereditary sensory and autonomic neuropathy 3 •hereditary sensory and autonomic neuropathy type 3 •hereditary sensory and autonomic neuropathy type III •hereditary sensory neuropathy type 3 •HSAN 3 •HSAN III •HSAN3 • HSN 3 •neuropathy, hereditary sensory and autonomic, type 3 •neuropathy, hereditary sensory and autonomic, type III •Riley Day syndrome •FD |
Peripheral neuropathy |
ELP1 elongator acetyltransferase complex subunit 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Emery-Dreifuss muscular dystrophy 1, X-linked X-linked recessive |
Muscular dystrophies |
EMD emerin |
Reports Updated as of Feb 01, 2025 |
PubMed | |
| Eichsfeld type congenital muscular dystrophy Autosomal recessive |
•Rigid spine muscular dystrophy 1 •Congenital myopathy 3 with rigid spine •Myopathy, sepn1-related |
Skeletal muscle disorders |
SELENON selenoprotein N |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Pontocerebellar hypoplasia type 9 Autosomal recessive |
•AMPD2 non-syndromic pontocerebellar hypoplasia •non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2 •PCH9 |
Motor neuron disorders |
AMPD2 adenosine monophosphate deaminase 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| X-linked myopathy with excessive autophagy X-linked recessive |
•Autophagic vacuolar myopathy •Vacuolar myopathy •myopathy, X-linked, with excessive autophagy, X-linked recessive •XMEA |
Muscular dystrophies |
VMA21 vacuolar ATPase assembly factor VMA21 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Brown-Vialetto-van Laere syndrome 2 Autosomal recessive |
•Riboflavin transporter deficiency type 2 |
Motor neuron disorders |
SLC52A2 solute carrier family 52 member 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Myopathy, tubular aggregate, 1 Autosomal dominant |
•Tubular aggregate myopathy •myopathy, tubular aggregate, type 1 |
Skeletal muscle disorders |
STIM1 stromal interaction molecule 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Fibrosis of extraocular muscles, congenital, 2 Autosomal recessive |
•PHOX2A-related congenital fibrosis of the extraocular muscles •congenital fibrosis of the extraocular muscles 2 •FEOM2 locus •fibrosis of extraocular muscles, congenital, autosomal recessive |
Muscular dystrophies |
PHOX2A paired like homeobox 2A |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Congenital fibrosis of extraocular muscles type 1 Autosomal dominant |
•Blepharoptosis with absent eye movements •congenital fibrosis of extraocular muscles •congenital fibrosis of the extraocular muscles •FEOM •fibrosis of extraocular muscles, congenital •fibrosis of extraocular muscles, congenital, type 1 •congenital fibrosis of the extraocular muscles 1a •FEOM1 Locus •KIF21A-related congenital fibrosis of the extraocular muscles •ophthalmoplegia, congenital |
Muscular dystrophies |
KIF21A kinesin family member 21A |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Hereditary liability to pressure palsies Autosomal dominant |
•Hereditary neuropathy with liability to pressure palsies •current pressure-sensitive neuropathy •familial recurrent polyneuropathy •hereditary liability to pressure palsies •heterozygous microdeletion 17p11.2p12 •HNPP •neuropathy, recurrent, with pressure palsies •potato-grubbing palsy •tomaculous neuropathy •tulip-bulb digger's palsy •hereditary neuropathy with liability to pressure palsy •polyneuropathy, familial recurrent |
Peripheral neuropathy |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Multiminicore myopathy Autosomal dominant, Autosomal recessive |
•Multiminicore disease •MmD •multicore disease •multicore myopathy |
Skeletal muscle disorders |
RYR1 ryanodine receptor 1 TTN titin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Amyotrophic neuralgia Autosomal dominant |
•hereditary brachial plexus neuropathy •amyotrophy, hereditary neuralgic •amyotrophy, hereditary neuralgic, with predilection for brachial plexus •brachial plexus neuropathy, hereditary •hereditary neuralgic amyotrophy •neuritis with brachial predilection |
Peripheral neuropathy |
SEPTIN9 septin 9 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Myoclonic dystonia 11 Autosomal dominant |
•Alcohol-responsive dystonia •SGCE myoclonus-dystonia syndrome •dystonia-11, myoclonic •myoclonic dystonia type 11 •myoclonus-dystonia syndrome caused by mutation in SGCE •DYT-SGCE •Dystonia 11 •Dystonia, alcohol responsive •Hereditary essential myoclonus •Myoclonic dystonia |
Movement disorders |
SGCE sarcoglycan epsilon |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Merosin deficient congenital muscular dystrophy Autosomal recessive |
•Congenital merosin-deficient muscular dystrophy 1A •Muscular dystrophy congenital, merosin negative •CMD1A •congenital merosin-deficient muscular dystrophy type 1A •congenital muscular dystrophy caused by mutation in LAMA2 •congenital muscular dystrophy due to laminin alpha2 deficiency •LAMA2 congenital muscular dystrophy •MDC1A •merosin-deficient congenital muscular dystrophy type 1A •merosin-negative congenital muscular dystrophy •muscular dystrophy, congenital merosin-deficient, type 1A •muscular dystrophy, congenital, merosin deficient or partially deficient |
Skeletal muscle disorders |
LAMA2 laminin subunit alpha 2 |
Reports Updated as of Feb 04, 2025 |
PubMed |
| LAMA2-related muscular dystrophy Autosomal recessive |
•Congenital merosin-deficient muscular dystrophy 1A •LAMA2 congenital muscular dystrophy •congenital merosin-deficient muscular dystrophy type 1A •congenital muscular dystrophy caused by mutation in LAMA2 •congenital muscular dystrophy due to laminin alpha2 deficiency •merosin-deficient congenital muscular dystrophy type 1A •merosin-negative congenital muscular dystrophy •muscular dystrophy, congenital merosin-deficient, type 1A •muscular dystrophy, congenital, merosin deficient or partially deficient •Laminin Alpha-2 Deficiency •Laminin alpha 2-related dystrophy •Merosin deficient congenital muscular dystrophy •Congenital merosin-deficient muscular dystrophy 1A •Muscular dystrophy congenital, merosin negative •CMD1A •MDC1A |
Muscular dystrophies |
LAMA2 laminin subunit alpha 2 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive |
•Calpainopathy •Leyden-Moebius muscular dystrophy •autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3 •CAPN3 autosomal recessive limb-girdle muscular dystrophy •limb-girdle muscular dystrophy due to calpain deficiency •limb-girdle muscular dystrophy type 2A •muscular dystrophy, limb-girdle, autosomal recessive 1 •muscular dystrophy, limb-girdle, type 2A •pelvofemoral muscular dystrophy •primary calpainopathy •LGMD2A |
Muscular dystrophies |
CAPN3 calpain 3 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| Congenital myotonia, autosomal dominant form Autosomal dominant |
•Becker generalized myotonia •Becker disease •Becker's disease •Myotonia congenita autosomal recessive •Myotonia generalized |
Skeletal muscle disorders |
CLCN1 chloride voltage-gated channel 1 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| Congenital sensory neuropathy with selective loss of small myelinated fibers Autosomal recessive |
•Hereditary sensory and autonomic neuropathy type 5 •HSAN5 •NGF autosomal recessive hereditary sensory and autonomic neuropathy •Autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF •Congenital insensitivity to pain and thermal analgesia •Hereditary sensory and autonomic neuropathy type V •NGF autosomal recessive hereditary sensory and autonomic neuropathy •HSAN Type V •Insensitivity to pain, congenital |
Peripheral neuropathy |
NGF nerve growth factor SCN11A sodium voltage-gated channel alpha subunit 11 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Congenital insensitivity to pain-hypohidrosis syndrome Autosomal recessive |
•CIP-hypohidrosis syndrome •HSAN8 •Hereditary sensory and autonomic neuropathy type 8 •Hereditary sensory and autonomic neuropathy type VIII •Neuropathy, hereditary sensory and autonomic, type VIII •HSAN VIII |
Peripheral neuropathy |
PRDM12 PR/SET domain 12 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Cold-induced sweating syndrome 1 Autosomal recessive |
•Crisponi syndrome •CRLF1-related cold-induced sweating syndrome including crisponi syndrome •Crisponi/cold-induced sweating syndrome 1 •Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death •Cold-induced sweating syndrome type 1 |
Peripheral neuropathy |
CRLF1 cytokine receptor like factor 1 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Charcot-Marie-Tooth disease axonal type 2F Autosomal dominant |
•Autosomal dominant Charcot-Marie-Tooth disease type 2F •Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1 •Charcot-Marie-Tooth neuronal type 2F •Charcot-Marie-Tooth neuropathy type 2F •HSPB1 Charcot-Marie-Tooth disease type 2 •Charcot-Marie-tooth disease, neuronal, type 2F •CMT2F |
Peripheral neuropathy |
HSPB1 heat shock protein family B (small) member 1 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Charcot-Marie-Tooth disease axonal type 2S Autosomal recessive |
•Autosomal recessive axonal Charcot-Marie-Tooth type 2S •IGHMBP2 Charcot-Marie-Tooth disease •Charcot-Marie-Tooth disease caused by mutation in IGHMBP2 •Charcot-Marie-Tooth disease type 2S •Charcot-Marie-Tooth neuropathy type 2S •CMT2S •Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2s •Charcot-Marie-Tooth neuropathy, type 2s |
Peripheral neuropathy |
IGHMBP2 immunoglobulin mu DNA binding protein 2 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Charcot-Marie-Tooth disease type 4C Autosomal recessive |
•Autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C •Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2 •Charcot-Marie-Tooth neuropathy type 4C •CMT4C •SH3TC2 Charcot-Marie-Tooth disease type 4C •Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C •Charcot-Marie-Tooth disease, demyelinating, type 4C •Charcot-Marie-Tooth neuropathy type 4c (CMT4C) |
Peripheral neuropathy |
SH3TC2 SH3 domain and tetratricopeptide repeats 2 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Charcot-Marie-Tooth disease type 4D Autosomal recessive |
•NDRG1 Charcot-Marie-Tooth disease type 4 •Autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D •Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1 •Charcot-Marie-Tooth neuropathy type 4D •Hereditary motor ABD sensory neuropathy Lom type •Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D •Charcot-Marie-Tooth disease, demyelinating, type 4D •Charcot-Marie-Tooth neuropathy type 4D •Charcot-Marie-Tooth neuropathy type 4D (CMT4D) •Neuropathy, hereditary motor and sensory, LOM type •Hereditary motor and sensory neuropathy, Lom type •HMSN Lom type •HMSN-Lom •HMSN, Lom type •HMSN4D •HMSNL •CMT4D |
Peripheral neuropathy |
NDRG1 N-myc downstream regulated 1 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Charcot-Marie-Tooth disease type 4F Autosomal recessive |
•PRX Charcot-Marie-Tooth disease type 4 •Charcot-Marie-Tooth disease type 4 caused by mutation in PRX •Charcot-Marie-Tooth disease, type 4F •Charcot-Marie-Tooth Neuropathy Type 4F •Charcot-Marie-Tooth disease, demyelinating, type 4F •CMT4F |
Peripheral neuropathy |
PRX periaxin |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Charcot-Marie-Tooth disease type 4H Autosomal recessive |
•FGD4 Charcot-Marie-Tooth disease type 4 •Autosomal recessive Charcot-Marie-Tooth disease type 4H •Autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H •Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4 •Charcot-Marie-Tooth neuropathy type 4H •Charcot-Marie-Tooth disease, autosomal recessive, type 4H •Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H •Charcot-Marie-Tooth disease, demyelinating, type 4H •Charcot-Marie-Tooth neuropathy, type 4H •CMT4H |
Peripheral neuropathy |
FGD4 FYVE, RhoGEF and PH domain containing 4 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Charcot-Marie-Tooth disease type 4J Autosomal recessive |
•Autosomal recessive Charcot-Marie-Tooth disease type 4J •FIG4 Charcot-Marie-Tooth disease type 4 •Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4 •CMT4J •Charcot-Marie-Tooth disease, autosomal recessive, type 4J •Charcot-Marie-Tooth disease, demyelinating, type 4J •Charcot-Marie-Tooth neuropathy type 4J |
Peripheral neuropathy |
FIG4 FIG4 phosphoinositide 5-phosphatase |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Charcot-Marie-Tooth disease, demyelinating, type 1J Autosomal dominant |
•CHARCOT-MARIE-TOOTH Neuropathy, demyelinating, Type 1J |
Peripheral neuropathy |
ITPR3 inositol 1,4,5-trisphosphate receptor type 3 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Charcot-Marie-Tooth disease, type IA Autosomal dominant |
•Hereditary motor and sensory neuropathy 1A •Autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A •Charcot-Marie-Tooth disease, type 1A •Charcot-Marie-Tooth neuropathy type 1A •Charcot-Marie-Tooth syndrome type 1A •Charcot-Marie-Tooth disease type 1A •Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a •Charcot-Marie-Tooth disease, demyelinating, type 1a •Charcot-Marie-Tooth neuropathy, type 1a •Charcot-Marie-Tooth disease type 1A •Hereditary motor and sensory neuropathy ia •Microduplication 17p12 •CMT1A •HMSN1A •HMSN 1A •CMT 1A |
Peripheral neuropathy |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Jun 12, 2025 |
PubMed |