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8 OMIM references -
10 associated genes
65 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
3 OMIM references -
3 associated genes
64 signs/symptoms
Dyskeratosis congenita
Treacher-Collins syndrome

CTC1 POLR1C
DKC1 POLR1D
NHP2 TCOF1
NOP10
RTEL1
TERC
TERT
TINF2
USB1
WRAP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DKC1
(0.49)
POLR1C



Citations in the biomedical literature:


Dyskeratosis congenita
CTC1 DKC1 NHP2 NOP10 RTEL1 TERC
TERT TINF2 USB1 WRAP53
Treacher-Collins syndrome
POLR1C POLR1D TCOF1



Dyskeratosis congenita
Treacher-Collins syndrome

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

Synonym(s):
- Franceschetti-Klein syndrome
- Mandibulofacial dysostosis without limb anomalies

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 bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
8 OMIM references -
1 MeSH reference: D019871
External references:
3 OMIM references -
No MeSH references


COMMON
SIGNS
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anomalies of eyelids, eyelashes and lacrimal system
- Cataract / lens opacification
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Tracheo-esophageal fistula / esophageal atresia / stenosis


Dyskeratosis congenita
Treacher-Collins syndrome

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
- 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
- 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
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis
- Uterine / uterus / Fallopian tubes anomalies

Occasional
- Albinism (hair)
- Alopecia
- 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
- 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


Very frequent
- Autosomal dominant inheritance
- Bone / osseous hypoplasia
- Dental malocclusion
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Facial dysmorphism
- Flat cheek bones / malar hypoplasia
- Hypoplastic mandibula / partial absence of the mandibula
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Small face
- Structural anomalies of middle ear / ossicles / tympanic cavity

Frequent
- Absent / decreased lashes
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Broad nasal root
- Coloboma of the eyelid
- Conductive deafness / hearing loss
- External auditory canal atresia / stenosis / agenesis
- Frontal bossing / prominent forehead
- Low hair line-front
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Strabismus / squint
- Visual loss / blindness / amblyopia

Occasional
- Adrenal glands anomalies
- Anomalies of spine, vertebrae and pelvis
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal recessive inheritance
- Brachycephaly / flat occiput
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Choanal atresia
- Cleft lip
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Dystonia / torticollis / writer's cramp / blepharospasms
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Enamel anomaly
- Encephalocele / exencephaly
- Enchondroses
- Facial cleft
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Glossoptosis
- Hair and scalp anomalies
- High vaulted / narrow palate
- Hypertelorism
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Limited opening of the mouth
- Macrostomia / big mouth
- Micropenis / small penis / agenesis
- Patent ductus arteriosus
- Preauricular / branchial tags / appendages
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thymic aplasia / hypoplasia
- Tooth shape anomaly
- Undescended / ectopic testes / cryptorchidia / unfixed testes