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platelet-type bleeding disorder 17 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

platelet-type bleeding disorder 17

MONDO:0008553

Also known as:BDPLT17GFI1B inherited bleeding disorder, platelet-typebleeding disorder, platelet-type 17

Overview

An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.

GeneticsAutosomal recessive, Autosomal dominant · GFI1B (chr 9)

OnsetCHILDHOOD

ResearchLimited published research (3 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 always present findings: Abnormal bleeding tendency (abnormal bleeding), Prolonged bleeding time, Absence of alpha granules, and Macrothrombocytopenia and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	6	Abnormal bleeding tendency (abnormal bleeding), Prolonged bleeding time, Prolonged bleeding following procedure

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.

GFI1B encodes growth factor independent 1B transcriptional repressor (330 aa). Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Highest expression in Testis (5.5 TPM) and Whole Blood (3.3 TPM).

Platelet-type bleeding disorder 17 is caused by mutations in the GFI1B gene on chromosome 9.

GFI1B is classified as a druggable target (Kinase, Transcription Factor, and Transcription Factor Complex categories) with score 0.0.

Diagnosis

Genetic testing for GFI1B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for platelet-type bleeding disorder 17 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 always present 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 platelet-type bleeding disorder 17.

3 publications have been identified in PubMed for platelet-type bleeding disorder 17. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Hassan E (2025). [PMID: 40486211](https://pubmed.ncbi.nlm.nih.gov/40486211/). *Research and practice in thrombosis and haemostasis*. [Diagnostic / Biomarker]
Gök V (2025). [PMID: 40488176](https://pubmed.ncbi.nlm.nih.gov/40488176/). *Research and practice in thrombosis and haemostasis*. [Epidemiology / Natural History]
Aryal S (2025). [PMID: 41040832](https://pubmed.ncbi.nlm.nih.gov/41040832/). *Clinical case reports*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:187900

GARD

Genetic and Rare Diseases Info Center

GARD:15117

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?

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platelet-type bleeding disorder 17

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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