AMYOTROPHIC LATERAL SCLEROSIS 11

General Information (adopted from Orphanet):

Synonyms, Signs: ALS11
Number of Symptoms 4
OrphanetNr:
OMIM Id: 612577
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002493) Upper motor neuron dysfunction 19118816 IBIS 5 / 7739
2
(HPO:0007354) Amyotrophic lateral sclerosis 19118816 IBIS 25 / 7739
3
(HPO:0003202) Skeletal muscle atrophy 19118816 IBIS 281 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Chow et al. (2009) reported 5 unrelated patients diagnosed with probable or definite ALS. Two had a family history of the disorder. All had adult onset and showed prominent corticospinal tract findings. Nerve conduction velocity studies were normal, ...
Molecular genetics OMIM In 5 unrelated patients with amyotrophic lateral sclerosis, Chow et al. (2009) identified heterozygosity for a missense, 2 splice site, and 2 truncating mutations in the FIG4 gene (see, e.g., 609390.0006-609390.0008). The mutations were shown to result in ...