congenital myasthenic syndrome 1A
Findings
No curated finding names congenital myasthenic syndrome 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011088), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Middle age onset · Juvenile onset · Intermediate young adult onset
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Fatigable weaknessHPOHP:0003473
- 4 of 4 reported patients
- Upper limb muscle weaknessHPOHP:0003484
- 4 of 4 reported patients
- Hand muscle atrophyHPOHP:0009130
- 3 of 4 reported patients
- Diaphragmatic weaknessHPOHP:0009113
- 2 of 4 reported patients
- Generalized muscle weaknessHPOHP:0003324
- 2 of 4 reported patients
- Impaired masticationHPOHP:0005216
- 1 of 4 reported patients
- Intrinsic hand muscle atrophyHPO
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.
- CHRNA1HGNC:1955
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- Narrower terms (1)
Other names
4 names
Resolves to: congenital myasthenic syndrome 1A
- Also called
- CHRNA1 congenital myasthenic syndromeCMS1Acongenital myasthenic syndrome caused by mutation in CHRNA1congenital myasthenic syndrome type 1A