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mandibuloacral dysplasia progeroid syndrome (MDPS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mandibuloacral dysplasia progeroid syndrome

MONDO:0030880

Also known as:MDPSmandibuloacral dysplasia associated to MTX2

Overview

GeneticsAutosomal recessive · MTX2 (chr 2)

OnsetCONGENITAL

ResearchLimited published research (5 articles)

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 stature and Postnatal growth retardation; and very common findings: Generalized hypotonia. 56 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Joint stiffness, Osteolytic defects of the phalanges of the hand, Short femoral neck

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.

MTX2 encodes metaxin 2 (263 aa). Involved in transport of proteins into the mitochondrion Highest expression in Testis (81.7 TPM) and Cells EBV-transformed lymphocytes (65.9 TPM).

Mandibuloacral dysplasia progeroid syndrome is caused by mutations in the MTX2 gene on chromosome 2.

MTX2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MTX2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 14 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 mandibuloacral dysplasia progeroid syndrome.

5 publications have been identified in PubMed for mandibuloacral dysplasia progeroid syndrome. Research spans Basic Science / Preclinical (60%), Case Report / Case Series (20%), and Epidemiology / Natural History (20%).

Recent Publications

Manav Yiğit Z (2026). [PMID: 40459373](https://pubmed.ncbi.nlm.nih.gov/40459373/). *J Clin Res Pediatr Endocrinol*. [Epidemiology / Natural History]
Yang YD (2025). [PMID: 40206981](https://pubmed.ncbi.nlm.nih.gov/40206981/). *J Med Ultrasound*. [Case Report / Case Series]
Padhiar AA (2025). [PMID: 39661729](https://pubmed.ncbi.nlm.nih.gov/39661729/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Yang B (2025). [PMID: 40967033](https://pubmed.ncbi.nlm.nih.gov/40967033/). *Biochem Biophys Res Commun*. [Basic Science / Preclinical]
Talarmin-Gas C (2024). [PMID: 39462037](https://pubmed.ncbi.nlm.nih.gov/39462037/). *Commun Biol*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 5:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619127

Orphanet

European rare disease database

Orphanet:647667

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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mandibuloacral dysplasia progeroid syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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