amyotrophic lateral sclerosis type 19
Findings
No curated finding names amyotrophic lateral sclerosis type 19 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014223), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Loss of ambulationHPOHP:0002505
- 6 of 6 reported patients
- Respiratory insufficiency due to muscle weaknessHPOHP:0002747
- 2 of 6 reported patients
- DementiaHPOHP:0000726
- 0 of 3 reported patients
- Amyotrophic lateral sclerosisHPOHP:0007354
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ERBB4HGNC:3432
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022
- Limited · ClinGen · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: amyotrophic lateral sclerosis type 19
- Also called
- ALS19amyotrophic lateral sclerosis 19amyotrophic lateral sclerosis caused by mutation in ERBB4ERBB4 amyotrophic lateral sclerosis