AMYOTROPHIC LATERAL SCLEROSIS 18

General Information (adopted from Orphanet):

Synonyms, Signs: ALS18
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614808
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:0002015) Dysphagia 22801503 IBIS 301 / 7739
2
 (HPO:0001260) Dysarthria 22801503 IBIS 329 / 7739
3
 (HPO:0001257) Spasticity 22801503 IBIS 251 / 7739
4
 (HPO:0002380) Fasciculations 22801503 IBIS 42 / 7739
5
 (HPO:0007354) Amyotrophic lateral sclerosis 22801503 IBIS 25 / 7739
6
 (HPO:0001324) Muscle weakness 22801503 IBIS 859 / 7739
7
 (HPO:0003202) Skeletal muscle atrophy 22801503 IBIS 281 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among 22 cases of ALS that resulted from mutations in PFN1 (ALS18), all displayed limb onset. Given that bulbar onset represents approximately 25% of ALS cases, Wu et al. (2012) proposed that their observation suggests a common clinical ...
Molecular genetics OMIM Wu et al. (2012) identified 4 different missense mutations in 7 families segregating autosomal dominant ALS. Sequencing of the PFN coding region in 816 sporadic ALS samples identified 2 samples containing the E117G mutation (176610.0004). In each of ...