Amyotrophic Lateral Sclerosis 19 (ALS19)

External Ids:

Disease Ontology 12 DOID:0060210 OMIM 58 615515 MeSH 45 D000690

MedGen 43 C3715155 CN181216 SNOMED-CT via HPO 70 263681008 86044005 UMLS 74 C3715155

UniProtKB/Swiss-Prot : ⁷⁶ Amyotrophic lateral sclerosis 19: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MalaCards based summary : Amyotrophic Lateral Sclerosis 19, also known as als19, is related to amyotrophic lateral sclerosis 1 and lateral sclerosis. An important gene associated with Amyotrophic Lateral Sclerosis 19 is ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4), and among its related pathways/superpathways are Cytokine Signaling in Immune system and ErbB signaling pathway. Affiliated tissues include brain and spinal cord, and related phenotypes are respiratory insufficiency due to muscle weakness and amyotrophic lateral sclerosis

Disease Ontology : ¹² An amyotrophic lateral sclerosis that has material basis in mutation in the ERBB4 gene on chromosome 2.

Description from OMIM: 615515

Clinical features from OMIM:

615515

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 19

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 19.