rhabdomyolysis, susceptibility to, 1
MONDO:0859371Mondo
Findings
No curated finding names rhabdomyolysis, susceptibility to, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 6 of 6 reported patients
- RhabdomyolysisHPOHP:0003201
- 6 of 6 reported patients
- MyalgiaHPOHP:0003326
- 5 of 6 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 3 of 5 reported patients
- Exercise intoleranceHPOHP:0003546
- 3 of 6 reported patients
- Renal insufficiencyHPOHP:0000083
- 2 of 6 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 5 reported patients
- Type 2 muscle fiber predominanceHPOHP:0010602
- 1 of 5 reported patients
- Distal muscle weaknessHPOHP:0002460
- 1 of 6 reported patients
- Abnormal circulating fatty acylcarnitine concentrationHPOHP:0012071
- 0 of 6 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.
- HGNC:15719HGNC:15719
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of