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thrombocytopenia 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thrombocytopenia 4

MONDO:0012775

Also known as:CYCS thrombocytopeniathrombocytopenia caused by mutation in CYCSthrombocytopenia type 4

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Overview

Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.

GeneticsAutosomal dominant · CYCS (chr 7)

Clinical Trials1 registered

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: Low platelet count (thrombocytopenia). 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Abnormal platelet volume, Low platelet count (thrombocytopenia)

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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.

CYCS encodes cytochrome c, somatic (105 aa). Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Highest expression in Heart Atrial Appendage (131.9 TPM) and Heart Left Ventricle (123.8 TPM).

Thrombocytopenia 4 has limited evidence linking it to mutations in the CYCS gene on chromosome 7.

The CYCS protein participates in Cytochrome c (reduced), Cytochrome c (oxidised), and Expression of CYCS pathways.

CYCS is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CYCS is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for thrombocytopenia 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present 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.

1 clinical trial registered. Interventions under study include procedural interventions. Research is primarily sponsored by academic and government institutions.

155 publications have been identified in PubMed for thrombocytopenia 4. Research spans Clinical Trial Publication (23%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Clinical study results	36	23%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612004

GARD

Genetic and Rare Diseases Info Center

GARD:18289

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for CYCS, 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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thrombocytopenia 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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