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dyskeratosis congenita, autosomal recessive 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dyskeratosis congenita, autosomal recessive 8

MONDO:0859319

Overview

GeneticsAutosomal recessive · DCLRE1B (chr 1)

ResearchLimited published research (6 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: Decreased total B cell count, Bone marrow hypocellularity, Immunodeficiency, and Reduced total natural killer cell count; and common findings: Inflammation of the large intestine, Delayed speech and language development, Esophageal stricture, and Pancolitis and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Oral leukoplakia, Low blood cell counts (all types) (pancytopenia), Immunodeficiency

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.

DCLRE1B encodes DNA cross-link repair 1B (532 aa). 5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Highest expression in Cells Cultured fibroblasts (12.9 TPM) and Cells EBV-transformed lymphocytes (10.9 TPM).

Dyskeratosis congenita, autosomal recessive 8 is associated with mutations in the DCLRE1B gene on chromosome 1.

The DCLRE1B protein participates in DNA nucleases unhook the interstrand crosslink (ICL) pathway.

DCLRE1B is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DCLRE1B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 12 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, autosomal recessive 8.

6 publications have been identified in PubMed for dyskeratosis congenita, autosomal recessive 8. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Niknafs AM (2026). [PMID: 40762130](https://pubmed.ncbi.nlm.nih.gov/40762130/). *Clin Genet*. [Epidemiology / Natural History]
Tometten M (2025). [PMID: 39938003](https://pubmed.ncbi.nlm.nih.gov/39938003/). *Blood Adv*. [Epidemiology / Natural History]
Nakano Y (2024). [PMID: 39264246](https://pubmed.ncbi.nlm.nih.gov/39264246/). *Clin Cancer Res*. [Review / Meta-Analysis]
Niewisch MR (2024). [PMID: 39661387](https://pubmed.ncbi.nlm.nih.gov/39661387/). *JAMA Netw Open*. [Epidemiology / Natural History]
Rolles B (2024). [PMID: 39371255](https://pubmed.ncbi.nlm.nih.gov/39371255/). *Transfus Med Hemother*. [Review / Meta-Analysis]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620133

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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dyskeratosis congenita, autosomal recessive 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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