Charcot-Marie-Tooth disease axonal type 2P
MONDO:0013753Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2P yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013753), read 2026-09-29. CC BY 4.0.
- Onset and course
- Slowly progressive
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.
- LRSAM1HGNC:25135
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2P
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2GCharcot-Marie-Tooth disease caused by mutation in LRSAM1Charcot-Marie-Tooth disease, axonal, type 2PCharcot-Marie-Tooth neuropathy, type 2PCharcot-Marie-Toothe disease, axonal, type 2PCMT2PLRSAM1 Charcot-Marie-Tooth disease