congenital myasthenic syndrome 5
Findings
No curated finding names congenital myasthenic syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.
Definition from the Mondo Disease Ontology (MONDO:0011281), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Juvenile onset
HPO, annotations 2026-09-02
Features
57 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.
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHPOHP:0003403
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Fatigable weaknessHPOHP:0003473
- 12 of 12 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Type 2 muscle fiber atrophyHPOHP:0003554
- 2 of 2 reported patients
- Very rare (1% to 4% of cases)
- Generalized muscle weaknessHPOHP:0003324
- 1 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Proximal muscle weaknessHPOHP:0003701
Show the remaining 45
- Facial palsyHPOHP:0010628
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- MyopathyHPOHP:0003198
- Frequent (30% to 79% of cases)
- Neck muscle weaknessHPOHP:0000467
- 1 of 6 reported patients
- Frequent (30% to 79% of cases)
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.
- COLQHGNC:2226
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
7 names
Resolves to: congenital myasthenic syndrome 5
- Also called
- CMS5COLQ congenital myasthenic syndromecongenital myasthenic syndrome caused by mutation in COLQcongenital myasthenic syndrome type 5EADEngel congenital myasthenic syndromemyasthenic syndrome, congenital, type 5