Features include always present findings: Loss of ambulation; and common findings: Difficulty breathing due to muscle weakness (respiratory insufficiency due to muscle weakness). 4 total HPO annotations.

ERBB4 encodes erb-b2 receptor tyrosine kinase 4 (1,308 aa). Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Highest expression in Brain Cerebellar Hemisphere (9.1 TPM) and Artery Aorta (8.6 TPM).

Amyotrophic lateral sclerosis type 19 has limited evidence linking it to mutations in the ERBB4 gene on chromosome 2.

The ERBB4 protein participates in ERBB4 JM-B CYT-1 isoform, ERBB4 JM-A CYT-1 isoform, and ERBB4 JM-A CYT-2 isoform pathways.

ERBB4 is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Kinase, and Tyrosine Kinase categories) with score 0.9.

Genetic testing for ERBB4 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for amyotrophic lateral sclerosis type 19 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 common feature.

No clinical trials have been registered for amyotrophic lateral sclerosis type 19.

10 publications have been identified in PubMed for amyotrophic lateral sclerosis type 19. Research spans Review / Meta-Analysis (30%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).