myofibrillar myopathy 7
MONDO:0014922Mondo
Findings
No curated finding names myofibrillar myopathy 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.
Definition from the Mondo Disease Ontology (MONDO:0014922), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Slowly progressive
HPO, annotations 2026-09-02
Features
33 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.
- Achilles tendon contractureHPOHP:0001771
- 1 of 1 reported patient
- Bowel incontinenceHPOHP:0002607
- 1 of 1 reported patient
- Elbow flexion contractureHPOHP:0002987
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Enuresis nocturnaHPOHP:0010677
- 1 of 1 reported patient
- Facial palsyHPOHP:0010628
- 2 of 2 reported patients
- Flexion contractureHPOHP:0001371
Show the remaining 21
- Increased Z-disc widthHPOHP:0033008
- 1 of 1 reported patient
- Limited hip extensionHPOHP:0003093
- 1 of 1 reported patient
- Lumbar hyperlordosisHPOHP:0002938
- 1 of 1 reported patient
- Multiple joint contracturesHPOHP:0002828
- 2 of 2 reported patients
- Muscle weaknessHPOHP:0001324
- 4 of 4 reported patients
- MyalgiaHPOHP:0003326
- 2 of 2 reported patients
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.
- KYHGNC:26576
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- Narrower terms (1)
Other names
4 names
Resolves to: myofibrillar myopathy 7
- Also called
- KY myofibrillar myopathy (disease)myofibrillar myopathy (disease) caused by mutation in KYmyopathy, myofibrillar, 7myopathy, myofibrillar, type 7