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telangiectasia, hereditary hemorrhagic, type 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

telangiectasia, hereditary hemorrhagic, type 5

MONDO:0014217

Also known as:GDF2 hereditary hemorrhagic telangiectasiaGDF2 related HHT-like syndromehereditary hemorrhagic telangiectasia caused by mutation in GDF2

Overview

Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.

GeneticsAutosomal dominant · GDF2 (chr 10)

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: Telangiectasia and Spontaneous, recurrent epistaxis; and common findings: Portal hypertension and Elevated circulating hepatic transaminase concentration.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Portal hypertension

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.

GDF2 encodes growth differentiation factor 2 (429 aa). Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Highest expression in Liver (8.3 TPM) and Testis (0.1 TPM).

Telangiectasia, hereditary hemorrhagic, type 5 has been associated with mutations in the GDF2 gene on chromosome 10.

GDF2 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 1.5.

Diagnosis

Genetic testing for GDF2 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for telangiectasia, hereditary hemorrhagic, type 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 common features.

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 telangiectasia, hereditary hemorrhagic, type 5.

35 publications have been identified in PubMed for telangiectasia, hereditary hemorrhagic, type 5. Research spans Basic Science / Preclinical (29%), Review / Meta-Analysis (23%), and Case Report / Case Series (23%).

Research Type	Count	% of Total
Laboratory research	10	29%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615506

GARD

Genetic and Rare Diseases Info Center

GARD:15978

Questions for Your Care Team

→Should I pursue genetic testing for GDF2, 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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Kisho

telangiectasia, hereditary hemorrhagic, type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

telangiectasia, hereditary hemorrhagic, type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications