myofibrillar myopathy 8
MONDO:0014993Mondo
Findings
No curated finding names myofibrillar myopathy 8 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 PYROXD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014993), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
42 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.
- Hypernasal speechHPOHP:0001611
- 9 of 9 reported patients
- HyporeflexiaHPOHP:0001265
- 9 of 9 reported patients
- Limb muscle weaknessHPOHP:0003690
- 9 of 9 reported patients
- Muscle weaknessHPOHP:0001324
- 9 of 9 reported patients
- Myopathic faciesHPOHP:0002058
- 9 of 9 reported patients
- Difficulty climbing stairsHPOHP:0003551
- 8 of 9 reported patients
- DysphagiaHPOHP:0002015
Show the remaining 30
- Elevated circulating creatine kinase activityHPOHP:0003236
- 4 of 9 reported patients
- Gowers signHPOHP:0003391
- 4 of 9 reported patients
- Joint hypermobilityHPOHP:0001382
- 4 of 9 reported patients
- Long faceHPOHP:0000276
- 4 of 9 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 4 of 9 reported patients
- Tall statureHPOHP:0000098
- 4 of 9 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.
- PYROXD1HGNC:26162
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: myofibrillar myopathy 8
- Also called
- myofibrillar myopathy (disease) caused by mutation in PYROXD1myopathy, myofibrillar, 8myopathy, myofibrillar, type 8PYROXD1 myofibrillar myopathy (disease)