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brachydactyly type E1 (BDE1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type E1

MONDO:0007223

Also known as:BDE1HOXD13 brachydactyly type Ebrachydactyly type E caused by mutation in HOXD13

Overview

Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.

GeneticsAutosomal dominant · HOXD13 (chr 2)

ResearchLimited published research (7 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: Moderately short stature, Type E brachydactyly, Brachydactyly, and Multiple impacted teeth and 5 more.

Organ System	Phenotype Count	Example Features
Growth and development	1	Moderately short stature
Head and neck

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.

HOXD13 encodes homeobox D13 (343 aa). Sequence-specific transcription factor that binds gene promoters and activates their transcription. Highest expression in Colon Sigmoid (34.0 TPM) and Vagina (31.9 TPM).

Brachydactyly type E1 is associated with mutations in the HOXD13 gene on chromosome 2.

HOXD13 is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 26.1.

Diagnosis

Genetic testing for HOXD13 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for brachydactyly type E1 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 brachydactyly type E1.

7 publications have been identified in PubMed for brachydactyly type E1. Research spans Basic Science / Preclinical (29%), Other (14%), and Diagnostic / Biomarker (14%).

Recent Publications

Unknown (2026). [PMID: 41790440](https://pubmed.ncbi.nlm.nih.gov/41790440/). *J Bone Miner Res*. [Other]
Monahan G (2025). [PMID: 41031626](https://pubmed.ncbi.nlm.nih.gov/41031626/). *Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research*. [Basic Science / Preclinical]
Wang X (2025). [PMID: 40589517](https://pubmed.ncbi.nlm.nih.gov/40589517/). *Frontiers in endocrinology*. [Diagnostic / Biomarker]
Gallegos FR (2025). [PMID: 39803890](https://pubmed.ncbi.nlm.nih.gov/39803890/). *American journal of hypertension*. [Review / Meta-Analysis]
Ramakrishnan A (2024). [PMID: 39104441](https://pubmed.ncbi.nlm.nih.gov/39104441/). *JCEM case reports*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:113300

Questions for Your Care Team

→Should I pursue genetic testing for HOXD13, 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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brachydactyly type E1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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