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mandibuloacral dysplasia with type B lipodystrophy (MADB) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mandibuloacral dysplasia with type B lipodystrophy

MONDO:0012074

Also known as:MADBlipodystrophy, type B, associated with Mandibuloacral dysplasia

Overview

GeneticsAutosomal recessive · ZMPSTE24 (chr 1)

OnsetJUVENILE, CHILDHOOD

ResearchLimited published research (2 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: Stage 5 chronic kidney disease, Flexion contracture, Narrow mouth, and Short nose and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand, Short phalanx of finger

Genetic Landscape

ZMPSTE24 function has not been fully characterized.

Mandibuloacral dysplasia with type B lipodystrophy is caused by mutations in the ZMPSTE24 gene on chromosome 1.

Diagnosis

Genetic testing for ZMPSTE24 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 16 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 mandibuloacral dysplasia with type B lipodystrophy.

2 publications have been identified in PubMed for mandibuloacral dysplasia with type B lipodystrophy. Research spans Review / Meta-Analysis (100%).

Recent Publications

Le Collen L (2025). [PMID: 39993161](https://pubmed.ncbi.nlm.nih.gov/39993161/). *Eur J Endocrinol*. [Review / Meta-Analysis]
Krüger P (2024). [PMID: 39125589](https://pubmed.ncbi.nlm.nih.gov/39125589/). *Int J Mol Sci*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 17, 2026, 7:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608612

Orphanet

European rare disease database

Orphanet:90154

GARD

Genetic and Rare Diseases Info Center

GARD:9989

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 with type B lipodystrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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