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symphalangism, proximal, 1B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

symphalangism, proximal, 1B

MONDO:0014125

Also known as:GDF5 proximal symphalangism (disease)proximal symphalangism (disease) caused by mutation in GDF5symphalangism, proximal, type 1B

Overview

Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.

GeneticsAutosomal dominant · GDF5 (chr 20)

ResearchLimited published research (1 article)

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: Proximal/middle symphalangism of 5th finger, Abnormal finger flexion crease, Clinodactyly of the 5th finger, and Pes planus and 1 more.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Proximal/middle symphalangism of 5th finger, Abnormal finger flexion crease, Clinodactyly of the 5th finger

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.

GDF5 encodes growth differentiation factor 5 (501 aa). Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Highest expression in Cells Cultured fibroblasts (7.0 TPM) and Minor Salivary Gland (4.0 TPM).

Symphalangism, proximal, 1B is associated with mutations in the GDF5 gene on chromosome 20.

The GDF5 protein participates in Signaling by BMP pathway.

GDF5 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for GDF5 is available. Testing is considered confirmatory for diagnosis.

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 symphalangism, proximal, 1B.

1 publication has been identified in PubMed for symphalangism, proximal, 1B. Research spans Basic Science / Preclinical (100%).

Recent Publications

Woods JP (2025). [PMID: 40301343](https://pubmed.ncbi.nlm.nih.gov/40301343/). *Nat Commun*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615298

GARD

Genetic and Rare Diseases Info Center

GARD:15942

Questions for Your Care Team

→Should I pursue genetic testing for GDF5, 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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symphalangism, proximal, 1B

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team