AMYOTROPHIC LATERAL SCLEROSIS 19

General Information (adopted from Orphanet):

Synonyms, Signs: ALS19
Number of Symptoms 6
OrphanetNr:
OMIM Id: 615515
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:0007354) Amyotrophic lateral sclerosis 25 / 7739
2
 (HPO:0006957) Loss of ability to walk 7 / 7739
3
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
4
 (OMIM) Lower motor neuron degeneration 1 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (OMIM) Upper motor neuron degeneration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Takahashi et al. (2013) reported 3 Japanese sibs with onset of classic ALS between 60 and 70 years of age. They had relatively slowly progressive upper and lower motor neuron involvement without cognitive impairment. Two patients became ventilator-dependent ...
Molecular genetics OMIM In 3 Japanese sibs with late-onset amyotrophic lateral sclerosis-19, Takahashi et al. (2013) identified a heterozygous missense mutation in the ERBB4 gene (R927Q; 600543.0001). The mutation was found by whole-genome sequencing after exclusion of mutations in several known ...