Amyotrophic lateral sclerosis 1

Preferred Label : Amyotrophic lateral sclerosis 1;

Symbol : ALS1;

CISMeF acronym : ALS1; FALS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amyotrophic lateral sclerosis 1, familial; Amyotrophic lateral sclerosis 1, autosomal dominant; FALS;

Included titles and symbols : Amyotrophic lateral sclerosis 1, autosomal recessive; Amyotrophic lateral sclerosis, sporadic;

Description : Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial (Siddique and Deng, 1996). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. Rowland and Shneider (2001) and Kunst (2004) provided extensive reviews of ALS. Some forms of ALS occur with frontotemporal dementia (FTD). Familial ALS is distinct from a form of ALS with dementia reported in cases on Guam (105500) (Espinosa et al., 1962; Husquinet and Franck, 1980), in which the histology is different and dementia and parkinsonism complicate the clinical picture. - Genetic Heterogeneity of Amyotrophic Lateral Sclerosis ALS is a genetically heterogeneous disorder, with several causative genes and mapped loci. ALS6 (608030) is caused by mutation in the FUS gene (137070) on chromosome 16p11.2; ALS8 (608627) is caused by mutation in the VAPB gene (605704) on chromosome 13; ALS9 (611895) is caused by mutation in the ANG gene (105850) on chromosome 14q11; ALS10 (612069) is caused by mutation in the TARDBP gene (605078) on 1p36.2; ALS11 (612577) is caused by mutation in the FIG4 gene (609390) on chromosome 6q21; ALS12 (613435) is caused by mutation in the OPTN gene (602432) on chromosome 10p; ALS14 (613954) is caused by mutation in the VCP gene (601023) gene on chromosome 9p13-p12; ALS15 (300857) is caused by mutation in the UBQLN2 gene (300264) on chromosome Xp11.23-p11.1; ALS17 (614696) is caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; ALS18 (614808) is caused by mutation in the PFN1 gene (176610) on chromosome 17p13.3; ALS19 (615515) is caused by mutation in the ERBB4 gene (600543) on chromosome 2q34; and ALS20 (615426) is caused by mutation in the HNRNPA1 gene (164017) on chromosome 12q13. See also FTDALS (105550), caused by mutation in the C9ORF72 gene (614260) on chromosome 9p21. Loci associated with the disorder are found on chromosomes 18q21 (ALS3; 606640) and 20p13 (ALS7; 608031). Intermediate-length polyglutamine repeat expansions in the ATXN2 gene (601517) contribute to susceptibility to ALS (ALS13; 183090). Susceptibility to ALS has been associated with mutations in other genes, including deletions or insertions in the gene encoding the heavy neurofilament subunit (NEFH; 162230); deletions in the gene encoding peripherin (PRPH; 170710); and mutations in the dynactin gene (DCTN1; 601143). Some forms of ALS show juvenile onset. See juvenile-onset ALS2 (205100), caused by mutation in the alsin (606352) gene on 2q33; ALS4 (602433), caused by mutation in the senataxin gene (SETX; 608465) on 9q34; and ALS16 (614373), caused by mutation in the SIGMAR1 gene (601978) on 9p13. A locus on chromosome 15q15-q21.1 (ALS5; 602099) is associated with a juvenile-onset form.;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the superoxide dismutase-1 gene (SOD-1, 147450.0001) Susceptibility conferred by mutation in the neurofilament, heavy polypeptide gene (NEFH, 162230.0001); Susceptibility conferred by mutation in the dynactin 1 gene (DCTN1, 601143.0002); Susceptibility conferred by mutation in the peripherin gene (PRPH, 170710.0001);

Laboratory abnormalities : Reduced cytosolic superoxide dismutase-1 (SOD1);

Prefixed ID : #105400;

Details

Origin ID

105400;

UMLS CUI

C1862939;

Automatic exact mappings (from CISMeF team)
- SOD1 wt Allele [NCIt concept]
- amyotrophic lateral sclerosis, sporadic [MeSH concept]
- symbol withdrawn ALS1 [HGNC gene]
Broader ORDO disease(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Currated CISMeF NLP mapping
- Amyotrophic Lateral Sclerosis 1 [NCIt concept]
- Amyotrophic lateral sclerosis 1 [MeSH concept]
- Amyotrophic lateral sclerosis type 1 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 1 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis type 1 [DO Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 1 [DO Concept]
Genes related to phenotype
- Dynactin 1 [OMIM gene]
- Neurofilament protein, heavy polypeptide [OMIM gene]
- Peripherin [OMIM gene]
- Superoxide dismutase 1 [OMIM gene]
HPO term(s)
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Degeneration of anterior horn cells [HPO term]
- Degeneration of the lateral corticospinal tracts [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Fasciculations [HPO term]
- Heterogeneous [HPO term]
- Hyperreflexia [HPO term]
- Muscle spasm [HPO term]
- Muscle weakness [HPO term]
- Muscle weakness and atrophy [HPO term]
- Pathologic changes in anterior horn cells and lateral corticospinal tracts [HPO term]
- Pseudobulbar paralysis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Sleep apnea [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyotrophic Lateral Sclerosis 1 [NCIt concept]
- Amyotrophic lateral sclerosis 1 [MeSH concept]
- Amyotrophic lateral sclerosis type 1 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 1 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis type 1 [DO Concept]

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