congenital muscular dystrophy due to integrin alpha-7 deficiency
Findings
No curated finding names congenital muscular dystrophy due to integrin alpha-7 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.
Definition from the Mondo Disease Ontology (MONDO:0013177), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
9 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.
- Increased variability in muscle fiber diameterHPOHP:0003557
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- Muscle weaknessHPOHP:0001324
- 3 of 3 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 3 reported patients
- TorticollisHPOHP:0000473
- 2 of 3 reported patients
- Gowers signHPOHP:0003391
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.
- ITGA7HGNC:6143
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: congenital muscular dystrophy due to integrin alpha-7 deficiency
- Also called
- congenital muscular dystrophy caused by mutation in ITGA7congenital muscular dystrophy with integrin alpha-7 deficiencycongenital muscular dystrophy with ITGA7 deficiencyITGA7 congenital muscular dystrophy