metaphyseal anadysplasia 2
Findings
No curated finding names metaphyseal anadysplasia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.
Definition from the Mondo Disease Ontology (MONDO:0013113), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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.
- Bowing of the legsHPOHP:0002979
- 2 of 2 reported patients
- Genu varumHPOHP:0002970
- 2 of 2 reported patients
- Metaphyseal irregularityHPOHP:0003025
- 2 of 2 reported patients · Infantile onset
- Metaphyseal wideningHPOHP:0003016
- 2 of 2 reported patients · Infantile onset
- Short femoral neckHPOHP:0100864
- 2 of 2 reported patients · Infantile onset
- MicromeliaHPOHP:0002983
- 0 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.
- MMP9HGNC:7176
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: metaphyseal anadysplasia 2
- Also called
- metaphyseal anadysplasia caused by mutation in MMP9metaphyseal anadysplasia type 2MMP9 metaphyseal anadysplasia