Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Torsion dystonia 1, early onset - (AD) | 17.1 | | |  | * Torsion dystonia, early onset - EOTD |
|
Myoclonic dystonia 11 - (AD) | 17.2 | | |  | * Myoclonus-dystonia syndrome - DYT11 |
|
Hereditary neuropathy, sensory and autonomic (Riley-Day syndrome) - (AR) | 17.3 | | | Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
|  | * Neuropathy, hereditary sensory and autonomic, type III - HSAN3 |  | * Familial dysautonomia (Riley-Day syndrome) |
|
Hereditary amyloidosis transthyretin-related - (AD) | 17.4 | | | Transthyretin (prealbumin, amyloidosis type I)
|
|
| | * Familial amyloid neuropathy |
|
Fibrosis of extraocular muscles, congenital, 1 - (AD) | 17.5 | | | Kinesin family member 21A
|
|
|  | * Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 |
|
Fibrosis of extraocular muscles, congenital, 2 - (AR) | 17.6 | | | Paired-like aristaless homeobox protein 2A
|
|
|  | * Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 |
|
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement - (AD) | 17.7 | | |  | * Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 |
|
Fibrosis of extraocular muscles, congenital, 5 | 17.8 | | | Collagen, type XXV, alpha-1
|
|
|  | * Fibrosis of extraocular muscles, congenital, 5 - CFEOM5 |
|
Arthrogryposis, distal, type 1A - (AD) | 17.9 | | |  | * Arthrogryposis, distal, type 1A - DA1A |  | * arthrogryposis, distal, type 2B - DA2B |  | * Cap myopathy, TPM2-related, included |  | * Nemaline myopathy 4 - NEM4 |
|
Arthrogryposis, distal, type 1B - (AD) | 17.10 | | | Myosin-binding proteinC, slow type
|
|
|  | * Arthrogryposis, distal, type 1B - DA1B |  | * Lethal Congenital Contracture Syndrome 4 - LCCS4 |  | * Congenital myopathy 16 - CMYP16 |
|
Arthrogryposis, distal, type 2A, Freeman-Sheldon syndrome - (AD) | 17.11 | | | Myosine, heavy chain 3, skeletal muscle, embryonic
|
|
|  | * Arthrogryposis, distal, type 2A - DA2A |  | * Arthrogryposis, distal, type 2B - DA2B |
|
Arthrogryposis, distal, type 2B1, Sheldon-Hall syndrome - (AD) | 17.12 | | |  | * Arthrogryposis, distal, type 2B - DA2B |
|
Arthrogryposis, distal, type 2B2 - (AD) | 17.13 | | |  | * Arthrogryposis, distal, type 2B - DA2B | | * Nemalin myopathy with distal arthrogryposis |
|
Arthrogryposis, distal, type 2B3 - (AD) | 17.14 | | | Myosine, heavy chain 3, skeletal muscle, embryonic
|
|
|  | * Arthrogryposis, distal, type 2A - DA2A |  | * Arthrogryposis, distal, type 2B - DA2B |
|
Arthrogryposis, distal, type 2B4 - (AD) | 17.15 | | |  | * Arthrogryposis, distal, type 1A - DA1A |  | * arthrogryposis, distal, type 2B - DA2B |  | * Cap myopathy, TPM2-related, included |  | * Nemaline myopathy 4 - NEM4 |
|
Arthrogryposis, distal, type 3 - (AD) | 17.16 | | | Piezo-type mechanosensitive ion channel component 2
|
|
|  | * Arthrogryposis, distal, type 3 - DA3 |  | * Arthrogryposis, distal, type 5 - DA5 |
|
Arthrogryposis, distal, type 5 - (AD) | 17.17 | | | Piezo-type mechanosensitive ion channel component 2
|
|
|  | * Arthrogryposis, distal, type 3 - DA3 |  | * Arthrogryposis, distal, type 5 - DA5 |
|
Arthrogryposis, distal, type 5D - (AR) | 17.18 | | | Endothelin-converting enzyme like 1
|
|
|  | * Arthrogryposis, distal, type 5D - DA5D |
|
Arthrogryposis, distal, type 7 (Trismus- pseudocamptodactyly syndrome) - (AD) | 17.19 | | | Myosin heavy chain, 8, skeletal muscle, perinatal
|
|
|  | * Myosin, heavy chain, perinatal - MYH8 |
|
Arthrogryposis, distal, type 10 - (AD) | 17.20 | | |  | * Arthrogryposis, distal, type 10 - DA10 |
|
Arthrogryposis, distal type 11 - (AD) | 17.21 | | |  | * Arthrogryposis, distal type 11 - DA11 |
|
Arthrogryposis, distal type 12 - (AR) | 17.22 | | | A disintegin-like and metalloproteinase with thrombospondin type 1 motif 15
|
|
|  | * Arthrogryposis, distal type 12 - DA12 |
|
Arthrogryposis multiplex congenita with nesprin-1 defect - (AR) | 17.23 | | | Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
|
|
| | * Dilated cardiomyopathy related to nesprin-1 |  | * Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 |  | * Emery-dreifuss muscular dystrophy 4 - EDMD4 |  | * Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM |
|
Arthrogryposis and BICD2-related neuromuscular disease - (AD) | 17.24 | | | Bicaudal D homolog 2 (Drosophila)
|
|
|  | * Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2A |  | * Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B - SMALED2B | | * Arthrogryposis and BICD2-related neuromuscular disease |
|
Arthrogryposis related to ASCC1 - (AR) | 17.25 | | | Activating signal cointegrator 1 complex subunit 1
|
|
|  | * Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 | | * Arthrogryposis related to ASCC1 |
|
Arthrogryposis multiplex congenita 7, X-linked - (XLR) | 17.26 | | |  | * Arthrogryposis multiplex congenita 7, X-linked - AMC7 |
|
Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - (AR) | 17.27 | | | Sphingomyelin phosphodiesterase 4, neutral membrane
|
|
|  | * Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - NEDMABA |
|
Fetal akinesia deformation sequence 1 - (AR) | 17.28 | | | 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 |
|
Fetal akinesia deformation sequence 3 - (AR) | 17.29 | | |  | * Familial limb-girdle myasthenia related to DOK7 - CMS1B |  | * Fetal akinesia deformation sequence 3 - FADS3 |  | * Myasthenic syndrome, congenital, 10 - CMS10 |
|
Fetal akinesia deformation sequence 2 - (AR) | 17.30 | | |  | * Myasthenic syndrome, congenital - CMS1D |  | * Fetal akinesia deformation sequence 2 - FADS2 |  | * Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11 |
|
Fetal akinesia deformation sequence 4 - (AR) | 17.31 | | |  | * Fetal akinesia deformation sequence 4 - FADS4 |
|
Fetal akinesia deformation sequence related to RYR1 - (AR) | 17.32 | | | 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 |
|
Fetal akinesia deformation related to AGRN - (AR) | 17.33 | | |  | * Familial limb girdle myasthenia related to agrin - CMS1B | | * Fetal akinesia deformation related to AGRN |
|
Severe foetal hypokinesia related to SCN4A - (AR) | 17.34 | | | 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 |
|
Spectraplakinopathy - (AR) | 17.35 | | | Microtubule-actin cross-linking factor 1
|
|
| |
Segmental amyoplasia with Distal Arthrogryposis - (AD) | 17.36 | | | Myosin Light Chain Phosphorylatable Fast Skeletal Muscle
|
|
|  | * Segmental amyoplasia with Distal Arthrogryposis - DA1C |
|
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - (AD) | 17.37 | | | Family with sequence similarity 111 member B
|
|
|  | * Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP |
|