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GTR Home > Conditions/Phenotypes > Amyotrophic lateral sclerosis type 12

Amyotrophic lateral sclerosis type 12

Synonyms
AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; OPTN-Related Amyotrophic Lateral Sclerosis

Summary

Amyotrophic lateral sclerosis-12 with or without frontotemporal dementia (ALS12) is a neurodegenerative disorder characterized by onset of ALS in adulthood. Rare patients may also develop frontotemporal dementia (FTD). Autosomal dominant and autosomal recessive inheritance patterns have been reported; there is also sporadic occurrence (summary by Maruyama et al., 2010 and Feng et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). [from OMIM]

Available tests

35 tests are in the database for this condition.

Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP, OPTN
    Summary: optineurin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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