Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

polydactyly, postaxial, type a7 (PAPA7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polydactyly, postaxial, type a7

MONDO:0060550

Also known as:PAPA7

Overview

GeneticsAutosomal recessive · IQCE (chr 7)

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 foot polydactyly; and sometimes findings: 2-3 toe cutaneous syndactyly and Short fifth metatarsal. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, 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.

IQCE encodes IQ motif containing E (695 aa). Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for proper limb morphogenesis Highest expression in Testis (40.4 TPM) and Pituitary (23.2 TPM).

Polydactyly, postaxial, type a7 is associated with mutations in the IQCE gene on chromosome 7.

The IQCE protein participates in GLI:SUFU translocates to the ciliary tip in response to Hh signaling pathway.

IQCE is classified as a druggable target with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature.

Data assembled from 4 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:617642

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?

← Back to All Diseases

polydactyly, postaxial, type a7

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team