Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

dyskeratosis congenita, digenic (DKCD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dyskeratosis congenita, digenic

MONDO:0031057

Also known as:DKCD

Overview

GeneticsPolygenic (multifactorial) · TYMS (chr 18)

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: Alopecia, Sparse eyelashes, Skin color changes (abnormality of skin pigmentation), and Nail dystrophy; and common findings: Recurrent infections, Short telomere length, Oral leukoplakia, and Decreased circulating IgA concentration. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	5	Alopecia, Skin color changes (abnormality of skin pigmentation), Squamous cell carcinoma of the skin

Genetic Landscape

TYMS function has not been fully characterized.

Dyskeratosis congenita, digenic is associated with mutations in the TYMS gene on chromosome 18.

Diagnosis

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

Prognosis

Phenotype severity distribution: 4 always present features, 4 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 dyskeratosis congenita, digenic.

3 publications have been identified in PubMed for dyskeratosis congenita, digenic. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Kanchanasutthiyakorn S (2025). [PMID: 40589716](https://pubmed.ncbi.nlm.nih.gov/40589716/). *Biomed Rep*. [Case Report / Case Series]
Shams RB (2025). [PMID: 40207375](https://pubmed.ncbi.nlm.nih.gov/40207375/). *Am J Med Genet A*. [Case Report / Case Series]
Xu T (2024). [PMID: 39058883](https://pubmed.ncbi.nlm.nih.gov/39058883/). *Medicine (Baltimore)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620040

Questions for Your Care Team

→Should I pursue genetic testing for TYMS, 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?

← Back to All Diseases

dyskeratosis congenita, digenic

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features