frontotemporal dementia and/or amyotrophic lateral sclerosis 1
MONDO:0007105Mondo
Findings
No curated finding names frontotemporal dementia and/or amyotrophic lateral sclerosis 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.
Definition from the Mondo Disease Ontology (MONDO:0007105), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- C9orf72HGNC:28337
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2015
Where it sits
Other names
7 names
Resolves to: frontotemporal dementia and/or amyotrophic lateral sclerosis 1
- Also called
- ALSFTDamyotrophic lateral sclerosis and/or frontotemporal dementiaC9ORF72 frontotemporal dementia with motor neuron diseasefrontotemporal dementia and/or amyotrophic lateral sclerosis type 1frontotemporal dementia and/or motor neuron diseasefrontotemporal dementia with motor neuron disease caused by mutation in C9ORF72FTDMND