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thrombocytopenia 3 (THC3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thrombocytopenia 3

MONDO:0010120

Also known as:THC3thrombocytopenia, autosomal recessive, 3

Overview

GeneticsAutosomal recessive · FYB1 (chr 5)

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), Menorrhagia, Purpura, and Low platelet count (thrombocytopenia) and others; and common findings: Prolonged bleeding time. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	6	Abnormal bleeding tendency (abnormal bleeding), Prolonged bleeding time, Low platelet count (thrombocytopenia)

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.

FYB1 encodes FYN binding protein 1 (783 aa). Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells. May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton. Modulates the expression of IL2. Highest expression in Whole Blood (68.1 TPM) and Spleen (39.9 TPM).

Thrombocytopenia 3 has been associated with mutations in the FYB1 gene on chromosome 5.

FYB1 is classified as a druggable target with score 17.4.

Diagnosis

Genetic testing for FYB1 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 1 common feature.

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 thrombocytopenia 3.

31 publications have been identified in PubMed for thrombocytopenia 3. Research spans Clinical Trial Publication (35%), Case Report / Case Series (26%), and Epidemiology / Natural History (23%).

Research Type	Count	% of Total
Clinical study results	11	35%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:273900

GARD

Genetic and Rare Diseases Info Center

GARD:18288

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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thrombocytopenia 3

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

thrombocytopenia 3

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