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MCID: AMY108
MIFTS: 17
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Amyotrophic Lateral Sclerosis 23
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases
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MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 23:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
average age at onset 67 years incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases |
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UniProtKB/Swiss-Prot
:
75
Amyotrophic lateral sclerosis 23: A form of amyotrophic lateral sclerosis, 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. ALS23 is an autosomal dominant form with incomplete penetrance.
MalaCards based summary : Amyotrophic Lateral Sclerosis 23, is also known as als23. An important gene associated with Amyotrophic Lateral Sclerosis 23 is ANXA11 (Annexin A11). Affiliated tissues include brain and spinal cord.
Description from OMIM:
617839
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MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 23:41
Brain,
Spinal Cord
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Genes related to Amyotrophic Lateral Sclerosis 23 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 23:6
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Search
GEO
for disease gene expression data for Amyotrophic Lateral Sclerosis 23.
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