myoglobinuria, acute recurrent, autosomal recessive
MONDO:0009992Mondo
Findings
No curated finding names myoglobinuria, acute recurrent, autosomal recessive 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 · Childhood onset
HPO, annotations 2026-09-02
Features
8 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
- 8 of 8 reported patients
- HyporeflexiaHPOHP:0001265
- 8 of 8 reported patients
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 3 of 3 reported patients
- Muscle weaknessHPOHP:0001324
- 8 of 8 reported patients
- MyalgiaHPOHP:0003326
- 8 of 8 reported patients
- MyoglobinuriaHPOHP:0002913
- 8 of 8 reported patients
- Acute rhabdomyolysisHPOHP:0008942
- AreflexiaHPOHP:0001284
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.
- LPIN1HGNC:13345
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025