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ALS22
MCID: AMY099
MIFTS: 27
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Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia (ALS22)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...
MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:
Characteristics:HPO:32
amyotrophic lateral sclerosis 22 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases |
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UniProtKB/Swiss-Prot
:
75
Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia: 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. Patients with ALS22 may develop frontotemporal dementia.
MalaCards based summary : Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia, is also known as als22. An important gene associated with Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia is TUBA4A (Tubulin Alpha 4a), and among its related pathways/superpathways are Development Slit-Robo signaling and Chaperonin-mediated protein folding. Affiliated tissues include brain and spinal cord, and related phenotypes are amyotrophic lateral sclerosis and frontotemporal dementia
Description from OMIM:
616208
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Diseases in the Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia family:
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Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616208Human phenotypes related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:32
GenomeRNAi Phenotypes related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:41
Brain,
Spinal Cord
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Genes related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:75
ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:6
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Search
GEO
for disease gene expression data for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia.
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Pathways related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:
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Cellular components related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:
Biological processes related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:
Molecular functions related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:
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