Research Evidence
Peer-reviewed studies linked via MeSH term "Dyskeratosis Congenita" from the MEDLINE/PubMed database.
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Survival after Hematopoietic Stem Cell Transplant in Patients with Dyskeratosis Congenita: Systematic Review of the Literature.
[object Object], [object Object] · Biol Blood Marrow Transplant · 2016
PMID: 26968789Meta-Analysis
Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita.
[object Object], [object Object], [object Object] · Curr Opin Hematol · 2016
PMID: 27607446Meta-Analysis
Telomere biology disorders: from dyskeratosis congenita and beyond.
[object Object], [object Object], [object Object] et al. · Postgrad Med J · 2024
PMID: 39197110Review
Can telomeric changes orchestrate the development of autoinflammatory skin diseases?
[object Object], [object Object], [object Object] et al. · Ital J Dermatol Venerol · 2024
PMID: 38502535Review
The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis.
[object Object], [object Object], [object Object] · Biomolecules · 2023
p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes.
[object Object], [object Object] · Int J Mol Sci · 2023
The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation.
[object Object], [object Object] · J Biol Chem · 2023
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
[object Object], [object Object], [object Object] et al. · Genes (Basel) · 2022
Telomere biology disorders: time for moving towards the clinic?
[object Object], [object Object], [object Object] · Trends Mol Med · 2022
Search all PubMed articles for Dyskeratosis congenita
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of neutrophils
Very frequent (80-99%)HP:0001874
Abnormality of the fingernails
Very frequent (80-99%)HP:0001231
Decreased haemoglobin
Very frequent (80-99%)HP:0001903
Dystrophic nails
Very frequent (80-99%)HP:0008404
Flat, discolored area of skin
Very frequent (80-99%)HP:0012733
Hyperpigmented macules
Very frequent (80-99%)HP:0001034
leukokeratosis
Very frequent (80-99%)HP:0002745
Low platelet count
Very frequent (80-99%)HP:0001873
Skin bullae
Very frequent (80-99%)HP:0008066
Abnormal morphology of female internal genitalia
Frequent (30-79%)HP:0000008
Abnormal tissue mass
Frequent (30-79%)HP:0002664
Abnormality of the pharynx
Frequent (30-79%)HP:0000600
Anorectal anomaly
Frequent (30-79%)HP:0012732
Aplasia/Hypoplasia of the skin
Frequent (30-79%)HP:0008065
Aplastic/hypoplastic toenails
Frequent (30-79%)HP:0010624
Blood coagulation disorder
Frequent (30-79%)HP:0001928
Cellular immunodeficiency
Frequent (30-79%)HP:0005374
Coarse metaphyseal trabecularization
Frequent (30-79%)HP:0100670
Cognitive delay
Frequent (30-79%)HP:0001263
Decreased body height
Frequent (30-79%)HP:0004322
Dental cavities
Frequent (30-79%)HP:0000670
Dental problems
Frequent (30-79%)HP:0000164
Frequent fractures
Frequent (30-79%)HP:0002757
Gum disease
Frequent (30-79%)HP:0000704
Hypopigmented skin patches
Frequent (30-79%)HP:0001053
Hypoplastic bone marrow
Frequent (30-79%)HP:0005528
Hypotrichosis
Frequent (30-79%)HP:0008070
Intestinal malabsorption
Frequent (30-79%)HP:0002024
Missing between one and six teeth
Frequent (30-79%)HP:0000668
Narrowing of the esophagus
Frequent (30-79%)HP:0010450
Related Conditions
X-linked dyskeratosis congenita(child)
Autosomal recessive dyskeratosis congenita(child)
Autosomal dominant dyskeratosis congenita(child)
Skin lesion(parent)
Hereditary disorder of the integument(parent)
Hereditary neoplastic syndrome(parent)
Ectodermal dysplasia(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 74911008
- UMLS CUI
- C0265965
- Fully Specified Name
- Dyskeratosis congenita (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.