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question mark ears, isolated - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

question mark ears, isolated

MONDO:0013013

Also known as:Cosman deformity of the auricleQMEauricular cleft, congenital

Overview

GeneticsAutosomal dominant · EDN1 (chr 6)

Clinical Presentation

Features include: Hearing abnormality and Question mark ear.

Organ System	Phenotype Count	Example Features
Ears	1	Hearing abnormality

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.

EDN1 encodes endothelin 1 (212 aa). Endothelins are endothelium-derived vasoconstrictor peptides. Highest expression in Adipose Subcutaneous (64.5 TPM) and Lung (50.7 TPM).

Question mark ears, isolated is associated with mutations in the EDN1 gene on chromosome 6.

The EDN1 protein participates in EDN1, EDN3:EDNRB, EDNRA,EDNRB bind EDNs, and Keratinocyte of granulosum layer differentiates into corneocyte of corneum layer in interfollicular epidermis pathways.

EDN1 is classified as a druggable target (Druggable Genome and Hormone Activity categories) with score 5.8.

Diagnosis

Genetic testing for EDN1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for question mark ears, isolated has been reported in the published literature.

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 question mark ears, isolated.

23 publications have been identified in PubMed for question mark ears, isolated. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (18%), and Other (9%).

Research Type	Count	% of Total
Patient case studies	10	45%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612798

GARD

Genetic and Rare Diseases Info Center

GARD:15583

Questions for Your Care Team

→Should I pursue genetic testing for EDN1, and what would the results mean for my family?
→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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question mark ears, isolated

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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