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metaphyseal anadysplasia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

metaphyseal anadysplasia 2

MONDO:0013113

Also known as:MMP9 metaphyseal anadysplasiametaphyseal anadysplasia caused by mutation in MMP9metaphyseal anadysplasia type 2

Overview

Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.

GeneticsAutosomal recessive · MMP9 (chr 20)

OnsetINFANTILE

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, and Genu varum and others. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Short femoral neck

Age of onset: infancy.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MMP9 encodes matrix metallopeptidase 9 (707 aa). Matrix metalloproteinase that plays an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Highest expression in Whole Blood (550.5 TPM) and Spleen (108.3 TPM).

Metaphyseal anadysplasia 2 is associated with mutations in the MMP9 gene on chromosome 20.

The MMP9 protein participates in MMP2, MMP7, MMP9 pathway.

MMP9 is classified as a druggable target (Drug Resistance, Druggable Genome, Enzyme, Neutral Zinc Metallopeptidase, and Protease categories) with score 4.2.

Diagnosis

Genetic testing for MMP9 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for metaphyseal anadysplasia 2.

1 publication has been identified in PubMed for metaphyseal anadysplasia 2. Research spans Basic Science / Preclinical (100%).

Recent Publications

Valdés-Fernández J (2026). [PMID: 41545352](https://pubmed.ncbi.nlm.nih.gov/41545352/). *Bone research*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613073

GARD

Genetic and Rare Diseases Info Center

GARD:15610

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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metaphyseal anadysplasia 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team