Amyotrophic lateral sclerosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ALS Lou-Gehrig disease Charcot disease |
| Number of Symptoms | 14 |
| OrphanetNr: | 803 |
| OMIM Id: |
105400
205250 300857 606640 608030 608031 608627 611895 612069 612577 613435 613954 614696 614808 615426 615515 |
| ICD-10: |
G12.2 |
| UMLs: |
C0002736 |
| MeSH: |
D000690 |
| MedDRA: |
10002026 |
| Snomed: |
86044005 |
Prevalence, inheritance and age of onset:
| Prevalence: | 5.2 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Motor neuron disease
-Rare neurologic disease Rare neurodegenerative disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0010535) | Sleep apnea | 24 / 7739 | ||||
|
|
(HPO:0001257) | Spasticity | 251 / 7739 | ||||
|
|
(HPO:0002398) | Degeneration of anterior horn cells | 14 / 7739 | ||||
|
|
(HPO:0007024) | Pseudobulbar paralysis | 7 / 7739 | ||||
|
|
(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
|
|
(HPO:0007354) | Amyotrophic lateral sclerosis | 25 / 7739 | ||||
|
|
(HPO:0002380) | Fasciculations | 42 / 7739 | ||||
|
|
(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
|
|
(HPO:0003394) | Muscle cramps | 106 / 7739 | ||||
|
|
(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
|
|
(HPO:0002314) | Degeneration of the lateral corticospinal tracts | 9 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|