AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA

General Information (adopted from Orphanet):

Synonyms, Signs: ALS14
Number of Symptoms 6
OrphanetNr:
OMIM Id: 613954
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:0001260) Dysarthria 329 / 7739
2
(HPO:0002380) Fasciculations 42 / 7739
3
(HPO:0007354) Amyotrophic lateral sclerosis 25 / 7739
4
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
5
(HPO:0001324) Muscle weakness 859 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of the disease include pallor of the corticospinal ...
Clinical Description OMIM Johnson et al. (2010) reported an Italian family in which 4 affected members had ALS. Affected individuals presented in adulthood (range, 37 to 53 years) with limb-onset motor neuron symptoms that rapidly progressed to involve all 4 limbs ...
Molecular genetics OMIM Using exome sequencing, Johnson et al. (2010) identified a heterozygous mutation in the VCP gene (R191Q; 601023.0006) in 4 affected members of an Italian family with ALS14 with or without FTD. Screening of the VCP gene in 210 ...