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8 OMIM references -
10 associated genes
65 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 12
6 OMIM references -
7 associated genes
54 signs/symptoms
Dyskeratosis congenita
Cowden syndrome

CTC1 AKT1
DKC1 KLLN
NHP2 PIK3CA
NOP10 PTEN
RTEL1 SDHB
TERC SDHC
TERT SDHD
TINF2
USB1
WRAP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TERT
(0.88)
AKT1



Citations in the biomedical literature:


Dyskeratosis congenita
CTC1 DKC1 NHP2 NOP10 RTEL1 TERC
TERT TINF2 USB1 WRAP53
Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD



Dyskeratosis congenita
Cowden syndrome

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

Synonym(s):
- Cowden disease
- Multiple hamartoma 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 (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin 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 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
8 OMIM references -
1 MeSH reference: D019871
External references:
6 OMIM references -
1 MeSH reference: D006223


COMMON
SIGNS
- Cataract / lens opacification
- Hearing loss / hypoacusia / deafness
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Macules
- Neoplasms / tumors
- Palmoplantar hyperkeratosis / keratoderma
- Scoliosis
- Short stature / dwarfism / nanism
- T-cell deficiency / cellular immunity deficiency
- Uterine / uterus / Fallopian tubes anomalies


Dyskeratosis congenita
Cowden 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
- 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
- Intrauterine growth retardation
- Malabsorption / chronic diarrhea / steatorrhea
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Multiple caries
- Mutiple fractures / bone fragility
- Repeat respiratory infections
- Rough trabeculation of bone
- Skin hypoplasia / aplasia / atrophy
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Telangiectasiae of the skin
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis

Occasional
- Albinism (hair)
- Alopecia
- Anomalies of eyelids, eyelashes and lacrimal system
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cirrhosis
- Diabetes mellitus
- Eyebrows anomalies
- Hepatocellular liver disease / hepatic failure
- Hepatomegaly / liver enlargement (excluding storage disease)
- 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
- Splenomegaly
- Testis anomalies
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Very frequent
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Follicular / conjunctival hamartomas
- Follicular / erythematous / edematous papules / milium
- Goiter
- Polyposis of the bowel / colon / intestine
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Warts / papillomas

Frequent
- Adenoma sebaceum
- Cavernous / tuberous hemangioma
- Fissured / scrotal tongue
- Hairy patch
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Meningioma
- Penis anomalies
- Pigmented naevi / naevus pigmentosus / lentigo
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of mucosae
- Thyroid anomalies
- Xanthomas / lipomas

Occasional
- Abnormal / polycystic ovaries
- Autism / autistic disoders
- Bone cyst
- Cafe-au-lait spot
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cranial hypertension
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- High vaulted / narrow palate
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Kyphosis
- Melanoma
- Myopia
- Pectus excavatum
- Renal / kidney anomalies
- Retinal vascular anomalies / retinal telangiectasia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Thyroid neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer