Amyotrophic lateral sclerosis
ORPHA:803DiseaseAutosomal dominant, Autosomal recessive, Not applicableAdult
Ассоциированные гены36
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CCNF | cyclin F | Disease-causing germline mutation(s) in | gene with protein product | 600227 |
| TAF15 | TATA-box binding protein associated factor 15 | Candidate gene tested in | gene with protein product | 601574 |
| ANXA11 | annexin A11 | Disease-causing germline mutation(s) in | gene with protein product | 602572 |
| CFAP410 | cilia and flagella associated protein 410 | Disease-causing germline mutation(s) in | gene with protein product | 603191 |
| GLE1 | GLE1 RNA export mediator | Disease-causing germline mutation(s) in | gene with protein product | 603371 |
| NEK1 | NIMA related kinase 1 | Major susceptibility factor in | gene with protein product | 604588 |
| GLT8D1 | glycosyltransferase 8 domain containing 1 | Major susceptibility factor in | gene with protein product | 618399 |
| CHCHD10 | coiled-coil-helix-coiled-coil-helix domain containing 10 | Disease-causing germline mutation(s) in | gene with protein product | 615903 |
| DAO | D-amino acid oxidase | Disease-causing germline mutation(s) in | gene with protein product | 124050 |
| ATXN2 | ataxin 2 | Major susceptibility factor in | gene with protein product | 601517 |
| CHMP2B | charged multivesicular body protein 2B | Disease-causing germline mutation(s) in | gene with protein product | 609512 |
| SOD1 | superoxide dismutase 1 | Disease-causing germline mutation(s) in | gene with protein product | 147450 |
| TREM2 | triggering receptor expressed on myeloid cells 2 | Major susceptibility factor in | gene with protein product | 605086 |
| VAPB | VAMP associated protein B and C | Disease-causing germline mutation(s) in | gene with protein product | 605704 |
| VCP | valosin containing protein | Disease-causing germline mutation(s) in | gene with protein product | 601023 |
| NEFH | neurofilament heavy chain | Major susceptibility factor in | gene with protein product | 162230 |
| OPTN | optineurin | Disease-causing germline mutation(s) in | gene with protein product | 602432 |
| DCTN1 | dynactin subunit 1 | Candidate gene tested in | gene with protein product | 601143 |
| TARDBP | TAR DNA binding protein | Disease-causing germline mutation(s) in | gene with protein product | 605078 |
| FIG4 | FIG4 phosphoinositide 5-phosphatase | Disease-causing germline mutation(s) in | gene with protein product | 609390 |
| FUS | FUS RNA binding protein | Disease-causing germline mutation(s) in | gene with protein product | 137070 |
| ANG | angiogenin | Disease-causing germline mutation(s) in | gene with protein product | 105850 |
| MATR3 | matrin 3 | Disease-causing germline mutation(s) in | gene with protein product | 164015 |
| PRPH | peripherin | Major susceptibility factor in | gene with protein product | 170710 |
| PON1 | paraoxonase 1 | Disease-causing germline mutation(s) in | gene with protein product | 168820 |
| PON2 | paraoxonase 2 | Disease-causing germline mutation(s) in | gene with protein product | 602447 |
| PON3 | paraoxonase 3 | Disease-causing germline mutation(s) in | gene with protein product | 602720 |
| SQSTM1 | sequestosome 1 | Disease-causing germline mutation(s) in | gene with protein product | 601530 |
| UBQLN2 | ubiquilin 2 | Disease-causing germline mutation(s) in | gene with protein product | 300264 |
| C9ORF72 | C9orf72-SMCR8 complex subunit | Disease-causing germline mutation(s) in | gene with protein product | 614260 |
| PFN1 | profilin 1 | Disease-causing germline mutation(s) in | gene with protein product | 176610 |
| TBK1 | TANK binding kinase 1 | Major susceptibility factor in | gene with protein product | 604834 |
| HNRNPA1 | heterogeneous nuclear ribonucleoprotein A1 | Disease-causing germline mutation(s) in | gene with protein product | 164017 |
| PPARGC1A | PPARG coactivator 1 alpha | Modifying germline mutation in | gene with protein product | 604517 |
| ERBB4 | erb-b2 receptor tyrosine kinase 4 | Disease-causing germline mutation(s) in | gene with protein product | 600543 |
| UNC13A | unc-13 homolog A | Major susceptibility factor in | gene with protein product | 609894 |
Фенотипы (HPO)47
Облигатный (100%)1
HP:0007354Amyotrophic lateral sclerosis
Очень частый (80–99%)3
HP:0002180Neurodegeneration
HP:0003324Generalized muscle weakness
HP:0007373Motor neuron atrophy
Частый (30–79%)32
HP:0000217Xerostomia
HP:0000708Atypical behavior
HP:0000712Emotional lability
HP:0000716Depression
HP:0000739Anxiety
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001347Hyperreflexia
HP:0001618Dysphonia
HP:0001824Weight loss
HP:0002015Dysphagia
HP:0002094Dyspnea
HP:0002307Drooling
HP:0002380Fasciculations
HP:0002878Respiratory failure
HP:0003202Skeletal muscle atrophy
HP:0003394Muscle spasm
HP:0003470Paralysis
HP:0003484Upper limb muscle weakness
HP:0003487Babinski sign
HP:0003693Distal amyotrophy
HP:0007340Lower limb muscle weakness
HP:0008955Progressive distal muscular atrophy
HP:0012378Fatigue
HP:0012473Tongue atrophy
HP:0012531Pain
HP:0030192Fatigable weakness of bulbar muscles
HP:0030195Fatigable weakness of swallowing muscles
HP:0030196Fatigable weakness of respiratory muscles
HP:0030878Abnormality on pulmonary function testing
HP:0031993Hoffmann sign
HP:0100543Cognitive impairment
Периодический (5–29%)10
HP:0001308Tongue fasciculations
HP:0002145Frontotemporal dementia
HP:0002313Spastic paraparesis
HP:0002360Sleep abnormality
HP:0002463Language impairment
HP:0003376Steppage gait
HP:0004326Cachexia
HP:0009027Foot dorsiflexor weakness
HP:0012764Orthopnea
HP:0033683Jaw hyperreflexia
Очень редкий (1–4%)1
HP:0025425Laryngospasm
Эпидемиология33
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.2 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.2 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.85 | Worldwide | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.35 | Worldwide | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.06 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.9 | United Kingdom | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.1 | Ireland | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.7 | Ireland | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.4 | Finland | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.4 | Finland | Value and class |
| Annual incidence | 1-9 / 100 000 | 2 | Canada | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.9 | Canada | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.46 | United States | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.37 | Uruguay | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.9 | Uruguay | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.4 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.1 | Denmark | Value and class |
| Annual incidence | 1-9 / 100 000 | 3 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | 7.9 | Italy | Value and class |
| Annual incidence | 1-9 / 100 000 | 2 | France | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.4 | Spain | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.4 | Spain | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.2 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 4 | Norway | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.51 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.97 | Taiwan, Province of China | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.6 | Faroe Islands | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.42 | Iran, Islamic Republic of | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.57 | Iran, Islamic Republic of | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.5 | Specific population | Value and class |
| Point prevalence | 1-5 / 10 000 | 10.8 | Specific population | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.4 | Specific population | Value and class |
| Point prevalence | 1-9 / 100 000 | 6 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)