ALS23
MCID: AMY108
MIFTS: 21
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Amyotrophic Lateral Sclerosis 23 (ALS23)
Categories:
Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 23:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance average age at onset 67 years
Inheritance:
autosomal dominant HPO:31
amyotrophic lateral sclerosis 23:
Inheritance autosomal dominant inheritance Onset and clinical course incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases Mental diseases |
UniProtKB/Swiss-Prot :
73
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, also known as amyotrophic lateral sclerosis type 23, is related to amyotrophic lateral sclerosis 1 and lateral sclerosis. An important gene associated with Amyotrophic Lateral Sclerosis 23 is ANXA11 (Annexin A11). Affiliated tissues include spinal cord, and related phenotype is amyotrophic lateral sclerosis. Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in heterozygous mutation in the ANXA11 gene on chromosome 10q22. |
Human phenotypes related to Amyotrophic Lateral Sclerosis 23:31
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MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 23:40
Spinal Cord
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Articles related to Amyotrophic Lateral Sclerosis 23:
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ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 23:6
UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 23:73
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Search
GEO
for disease gene expression data for Amyotrophic Lateral Sclerosis 23.
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