AMYOTROPHIC LATERAL SCLEROSIS 12

General Information (adopted from Orphanet):

Synonyms, Signs: ALS12
Number of Symptoms 5
OrphanetNr:
OMIM Id: 613435
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001308) Tongue fasciculations 18 / 7739
2
(HPO:0007354) Amyotrophic lateral sclerosis 25 / 7739
3
(HPO:0002015) Dysphagia 301 / 7739
4
(HPO:0001260) Dysarthria 329 / 7739
5
(HPO:0001324) Muscle weakness 859 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Of 6 Japanese individuals from consanguineous marriages who had ALS, Maruyama et al. (2010) identified 3 with mutations in the OPTN gene. Two were sibs. One member of the sib pair developed muscle weakness of her left arm ...
Molecular genetics OMIM Among 8 Japanese patients with ALS, Maruyama et al. (2010) identified homozygosity for 2 null mutations in the OPTN gene, one a deletion of exon 5 (602432.0005) in 2 sibs and the other a nonsense mutation (Q398X; 602432.0006) ...