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Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.
Features include very common findings: Amyotrophic lateral sclerosis; and sometimes findings: Frontotemporal dementia. 9 total HPO annotations.
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:19 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Difficulty swallowing (dysphagia), Frontotemporal dementia, Dystonia |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
UBQLN2 function has not been fully characterized.
Amyotrophic lateral sclerosis type 15 is caused by mutations in the UBQLN2 gene on chromosome X.
Genetic testing for UBQLN2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for amyotrophic lateral sclerosis type 15 has been reported in the published literature.
Phenotype severity distribution: 1 very common feature.
No clinical trials have been registered for amyotrophic lateral sclerosis type 15.
259 publications have been identified in PubMed for amyotrophic lateral sclerosis type 15. Kisho has analyzed 122 by research type. Research spans Basic Science / Preclinical (41%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (14%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 50 | 41% |
Research summaries | 25 | 20% |
Disease patterns and progression | 17 | 14% |
Testing and diagnosis research | 13 | 11% |
Clinical study results | 8 | 7% |
Patient case studies | 6 | 5% |
Other research | 2 | 2% |
New treatment approaches | 1 | 1% |
Liu Y (2026). [PMID: 41912662](https://pubmed.ncbi.nlm.nih.gov/41912662/). *Nat Neurosci*. [Basic Science / Preclinical]
Lorincz-Comi N (2026). [PMID: 41690969](https://pubmed.ncbi.nlm.nih.gov/41690969/). *Nat Commun*. [Basic Science / Preclinical]
Cudkowicz M (2026). [PMID: 41837970](https://pubmed.ncbi.nlm.nih.gov/41837970/). *JAMA Neurol*. [Clinical Trial Publication]
Toraih EA (2026). [PMID: 40139174](https://pubmed.ncbi.nlm.nih.gov/40139174/). *Neuroepidemiology*. [Epidemiology / Natural History]
Auburger G (2026). [PMID: 42041567](https://pubmed.ncbi.nlm.nih.gov/42041567/). *Cells*. [Basic Science / Preclinical]
Ma G (2026). [PMID: 42183747](https://pubmed.ncbi.nlm.nih.gov/42183747/). *Am J Epidemiol*. [Epidemiology / Natural History]
Tian X (2026). [PMID: 41633603](https://pubmed.ncbi.nlm.nih.gov/41633603/). *Beijing Da Xue Xue Bao Yi Xue Ban*. [Epidemiology / Natural History]
Jih KY (2026). [PMID: 41428955](https://pubmed.ncbi.nlm.nih.gov/41428955/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Basic Science / Preclinical]
Onwunma J (2026). [PMID: 41862640](https://pubmed.ncbi.nlm.nih.gov/41862640/). *EMBO J*. [Basic Science / Preclinical]
He Z (2026). [PMID: 41727138](https://pubmed.ncbi.nlm.nih.gov/41727138/). *bioRxiv*. [Basic Science / Preclinical]