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Dyskeratosis congenita
8 OMIM references -
10 associated genes
77 connected diseases
65 signs/symptoms
Disease Type of connection
Hoyeraal-Hreidarsson syndrome
Idiopathic pulmonary fibrosis
Idiopathic aplastic anemia
Familial melanoma
Coats plus syndrome
Poikiloderma with neutropenia
Retinopathy - anemia- central nervous system anomalies
B-cell chronic lymphocytic leukemia
Cerebellar ataxia - hypogonadism
17q11 microdeletion syndrome
Neuroblastoma
Familial isolated congenital asplenia
Cowden syndrome
Proteus syndrome
Acute promyelocytic leukemia
Anaplastic ependymoma
Fibronectin glomerulopathy
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Ewing sarcoma
Extraskeletal Ewing sarcoma
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Inherited Creutzfeldt-Jakob disease
Peripheral primitive neuroectodermal tumor
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Estrogen resistance syndrome
46,XY partial gonadal dysgenesis
Autosomal dominant childhood-onset cortical cataract
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Baraitser-Winter syndrome
Cone rod dystrophy
Congenital fiber-type disproportion myopathy
Developmental malformations - deafness - dystonia
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Fabry disease
Familial cortical myoclonus
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial isolated dilated cardiomyopathy
Familial thoracic aortic aneurysm and aortic dissection
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to phosphoglucomutase deficiency
Hemolytic anemia due to adenylate kinase deficiency
Hereditary nonpolyposis colon cancer
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hypermethioninemia due to glycine N-methyltransferase deficiency
Infantile Refsum disease
Leber congenital amaurosis
Leukocyte adhesion deficiency type III
Lissencephaly type 1 due to doublecortin gene mutation
Loeys-Dietz syndrome type 1
Marfan syndrome type 2
Muscular dystrophy, Selcen type
Neonatal adrenoleukodystrophy
Omenn syndrome
PGM-CDG
Pseudohypoaldosteronism type 2E
Retinitis pigmentosa
Severe combined immunodeficiency due to adenosine deaminase deficiency
Subcortical band heterotopia
Williams syndrome
Young adult-onset Parkinsonism
Zellweger syndrome
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
CLN2 disease
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
ANE syndrome
Treacher-Collins syndrome
Xeroderma pigmentosum complementation group C
Synonym(s):
- DKC
- Zinsser-Engman-Cole syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
8 OMIM references -
1 MeSH reference: D019871
Very frequent
- Abnormal fingernails
- Anaemia
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of tongue, gingiva and oral mucosa
- Dysplastic / thick / grooved toenails
- Irregular / in bands / reticular skin hyperpigmentation
- Macules
- Polynuclear cells / neutrophils anomalies / neutropenia
- Thin / hypoplastic / hyperconvex fingernails
- Thrombocytopenia / thrombopenia
- X-linked recessive inheritance

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Anomaly of the pharynx / pharyngeal anomaly
- Anus / rectum anomalies
- Bone marrow failure / pancytopenia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hyperhidrosis / increased sweating
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Irregular / patchy skin hypopigmentation
- Malabsorption / chronic diarrhea / steatorrhea
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Multiple caries
- Mutiple fractures / bone fragility
- Neoplasms / tumors
- Palmoplantar hyperkeratosis / keratoderma
- Repeat respiratory infections
- Rough trabeculation of bone
- Short stature / dwarfism / nanism
- Skin hypoplasia / aplasia / atrophy
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- T-cell deficiency / cellular immunity deficiency
- Telangiectasiae of the skin
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis
- Uterine / uterus / Fallopian tubes anomalies

Occasional
- Albinism (hair)
- Alopecia
- Anomalies of eyelids, eyelashes and lacrimal system
- Cataract / lens opacification
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cirrhosis
- Diabetes mellitus
- Eyebrows anomalies
- Hearing loss / hypoacusia / deafness
- Hepatocellular liver disease / hepatic failure
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Hypospadias / epispadias / bent penis
- Intracranial / cerebral calcifications
- Lymphoma
- Osteonecrosis / bone infarction
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Premature greying of hair
- Scoliosis
- Splenomegaly
- Testis anomalies
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment