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8 OMIM references -
10 associated genes
65 signs/symptoms
COMMON GENES: 4
PROTEIN INTERACTIONS: 7
COMMON SIGNS: 11
1 OMIM reference -
4 associated genes
28 signs/symptoms
Dyskeratosis congenita
Hoyeraal-Hreidarsson syndrome

CTC1 DKC1
DKC1 RTEL1
NHP2 TERT
NOP10 TINF2
RTEL1
TERC
TERT
TINF2
USB1
WRAP53


COMMON
GENES
DKC1
RTEL1
TERT
TINF2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NHP2
DKC1
NOP10
TERC
WRAP53
TERC
WRAP53
(0.89)
(0.82)
(0.82)
(0.73)
(0.72)
(0.63)
(0.49)
DKC1
TERT
DKC1
DKC1
DKC1
TERT
TERT



Citations in the biomedical literature:


Dyskeratosis congenita
CTC1 DKC1 NHP2 NOP10 RTEL1 TERC
TERT TINF2 USB1 WRAP53
Hoyeraal-Hreidarsson syndrome



Dyskeratosis congenita
Hoyeraal-Hreidarsson syndrome

Synonym(s):
- DKC
- Zinsser-Engman-Cole syndrome

Synonym(s):
- Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia

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 (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant

External references:
8 OMIM references -
1 MeSH reference: D019871
External references:
1 OMIM reference -
1 MeSH reference: C536068


COMMON
SIGNS
- Anaemia
- Bone marrow failure / pancytopenia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Intrauterine growth retardation
- Neoplasms / tumors
- Short stature / dwarfism / nanism
- Thrombocytopenia / thrombopenia
- X-linked recessive inheritance


Dyskeratosis congenita
Hoyeraal-Hreidarsson syndrome

Very frequent
- Abnormal fingernails
- 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

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
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hyperhidrosis / increased sweating
- Irregular / patchy skin hypopigmentation
- Malabsorption / chronic diarrhea / steatorrhea
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Multiple caries
- Mutiple fractures / bone fragility
- Palmoplantar hyperkeratosis / keratoderma
- Repeat respiratory infections
- Rough trabeculation of bone
- 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
- 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


Very frequent
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Microcephaly
- Purpura / petichiae

Frequent
- Clotting / hemostasis disorders
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Dilated cerebral ventricles without hydrocephaly
- Enanthema / aphtosa / aphta / leukoplakia
- Hypertonia / spasticity / rigidity / stiffness
- Nails anomalies
- Rippled skin

Occasional
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- White cell disorders