ALS19
MCID: AMY059
MIFTS: 37
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Amyotrophic Lateral Sclerosis 19 (ALS19)
Categories:
Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 19:
Characteristics:Inheritance:
Autosomal dominant 57
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases Oral diseases Mental diseases |
UniProtKB/Swiss-Prot: 73 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 amyotrophic lateral sclerosis type 19, is related to lateral sclerosis and amyotrophic lateral sclerosis 1. An important gene associated with Amyotrophic Lateral Sclerosis 19 is ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4), and among its related pathways/superpathways are Physico-chemical features and toxicity-associated pathways and Neurogenesis regulation in the olfactory epithelium. Affiliated tissues include spinal cord, brain and cortex, and related phenotypes are respiratory insufficiency due to muscle weakness and loss of ambulation Disease Ontology: 11 An amyotrophic lateral sclerosis that has material basis in mutation in the ERBB4 gene on chromosome 2. |
Human phenotypes related to Amyotrophic Lateral Sclerosis 19:30
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:615515 (Updated 08-Dec-2022) |
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Organs/tissues related to Amyotrophic Lateral Sclerosis 19:
MalaCards :
Spinal Cord,
Brain,
Cortex
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Articles related to Amyotrophic Lateral Sclerosis 19:
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ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 19:5 (show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 19:73
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Search
GEO
for disease gene expression data for Amyotrophic Lateral Sclerosis 19.
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Cellular components related to Amyotrophic Lateral Sclerosis 19 according to GeneCards Suite gene sharing:
Biological processes related to Amyotrophic Lateral Sclerosis 19 according to GeneCards Suite gene sharing:
Molecular functions related to Amyotrophic Lateral Sclerosis 19 according to GeneCards Suite gene sharing:
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