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polydactyly, postaxial, type A9 (PAPA9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polydactyly, postaxial, type A9

MONDO:0032603

Also known as:PAPA9

Overview

GeneticsAutosomal recessive · CIBAR1 (chr 8)

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: Postaxial hand polydactyly; and common findings: Postaxial foot polydactyly.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Postaxial hand polydactyly, Postaxial foot polydactyly

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.

CIBAR1 encodes CBY1 interacting BAR domain containing 1 (289 aa). Plays a critical role in regulating mitochondrial ultrastructure and function by maintaining the integrity of mitochondrial morphology, particularly the organization of cristae. Highest expression in Testis (65.5 TPM) and Ovary (19.2 TPM).

Polydactyly, postaxial, type A9 is associated with mutations in the CIBAR1 gene on chromosome 8.

CIBAR1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CIBAR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

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 polydactyly, postaxial, type A9.

2 publications have been identified in PubMed for polydactyly, postaxial, type A9. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Iturrate A (2025). [PMID: 41291844](https://pubmed.ncbi.nlm.nih.gov/41291844/). *Hum Genomics*. [Basic Science / Preclinical]
Umair M (2024). [PMID: 38853702](https://pubmed.ncbi.nlm.nih.gov/38853702/). *Clin Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618219

GARD

Genetic and Rare Diseases Info Center

GARD:18177

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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polydactyly, postaxial, type A9

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