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polydactyly, postaxial, type A8 (PAPA8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polydactyly, postaxial, type A8

MONDO:0029130

Also known as:PAPA8

Overview

GeneticsAutosomal recessive · GLI1 (chr 12)

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 common findings: Short stature; and sometimes findings: Nail dysplasia and Genu valgum. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	1	Short stature
Skin

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.

GLI1 encodes GLI family zinc finger 1 (1,106 aa). Acts as a transcriptional activator. Binds to the DNA consensus sequence 5'-GACCACCCA-3'. Regulates the transcription of specific genes during normal development. Highest expression in Nerve Tibial (46.2 TPM) and Testis (10.5 TPM).

Polydactyly, postaxial, type A8 is associated with mutations in the GLI1 gene on chromosome 12.

GLI1 is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 5.0.

Diagnosis

Genetic testing for GLI1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 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 A8.

2 publications have been identified in PubMed for polydactyly, postaxial, type A8. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clin Genet*. [Basic Science / Preclinical]
Njie R (2025). [PMID: 40857061](https://pubmed.ncbi.nlm.nih.gov/40857061/). *J Cell Mol Med*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618123

GARD

Genetic and Rare Diseases Info Center

GARD:16293

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 A8

Overview

Clinical Presentation

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

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