Amyotrophic Lateral Sclerosis 23 (ALS23)

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Disease Ontology 12 DOID:0080225 OMIM® 57 617839 OMIM Phenotypic Series 57 PS105400

MeSH 44 D000690 MedGen 41 C4693381 CN778765 SNOMED-CT via HPO 68 263681008 86044005

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.

More information from OMIM: 617839 PS105400

Clinical features from OMIM®:

617839 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 23

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 23.