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8 OMIM references -
10 associated genes
65 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
1 OMIM reference -
2 associated genes
96 signs/symptoms
Dyskeratosis congenita
Proteus syndrome

CTC1 AKT1
DKC1 PTEN
NHP2
NOP10
RTEL1
TERC
TERT
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
Proteus syndrome
AKT1 PTEN



Dyskeratosis congenita
Proteus syndrome

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

Synonym(s):
- Partial gigantism - nevi - hemihypertrophy - macrocephaly

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 circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic

External references:
8 OMIM references -
1 MeSH reference: D019871
External references:
1 OMIM reference -
1 MeSH reference: D016715


COMMON
SIGNS
- Cataract / lens opacification
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / in bands / reticular skin hyperpigmentation
- Multiple caries
- Scoliosis
- Splenomegaly


Dyskeratosis congenita
Proteus syndrome

Very frequent
- Abnormal fingernails
- Anaemia
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of tongue, gingiva and oral mucosa
- Dysplastic / thick / grooved toenails
- 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
- Intrauterine growth retardation
- Irregular / patchy skin hypopigmentation
- Malabsorption / chronic diarrhea / steatorrhea
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- 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
- 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)
- 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
- Testis anomalies
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Very frequent
- Abnormal fat distribution / lipodystrophy
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Abnormal vertebral size / shape
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Asymmetric rib cage / thorax
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Autosomal dominant inheritance
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Follicular / erythematous / edematous papules / milium
- Kyphosis
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lymphangioma / lymphatic malformations
- Macrodactyly / fingers hypertrophy / megalodactyly (hand)
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Pigmented naevi / naevus pigmentosus / lentigo
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Tall stature / gigantism / growth acceleration
- Thick skin / pachydermia / orange skin
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Vascular anomalies of skin / mucosae
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Xanthomas / lipomas

Frequent
- Bronchogenic cyst
- Cafe-au-lait spot
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Dolichocephaly / scaphocephaly
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Hyperostosis
- Hypertelorism
- Lymphedema
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pulmonary thromboembolism
- Syndactyly of fingers / interdigital palm
- Visceral angiomatosis (excluding skin)

Occasional
- Abnormal / polycystic ovaries
- Anodontia / oligodontia / hypodontia
- Anomalies of the neck
- Anteverted nares / nostrils
- Arterial embolism / thrombosis
- Buphthalmos
- Clinodactyly of fifth finger
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Congenital cardiac anomaly / malformation / cardiopathy
- Craniostenosis / craniosynostosis / sutural synostosis
- Depressed nasal bridge
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Enamel anomaly
- Exostoses
- External auditory canal atresia / stenosis / agenesis
- Flared / thick ala nasi
- Follicular / conjunctival hamartomas
- Glaucoma
- Hallux valgus
- Heterochromia / mixed colouring of iris
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hirsutism / hypertrichosis / Increased body hair
- Long face
- Low set ears / posteriorly rotated ears
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Macroorchidism / macrotestes
- Macropenis / megapenis / large penis
- Meningioma
- Myopathy
- Myopia
- Nails anomalies
- Oropharyngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Proptosis / exophthalmos
- Ptosis
- Renal cyst (single)
- Restricted joint mobility / joint stiffness / ankylosis
- Retinal detachment
- Retinal hamartoma
- Retinitis pigmentosa / retinal pigmentary changes
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sirenomelia / mermaid / lower limb fusion
- Strabismus / squint
- Structural and functional anomalies of the spleen
- Talipes-valgus
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Thymic hyperplasia
- Thymus / thymic neoplasm / tumor / carcinoma / cancer / thymoma
- Venous thrombosis / phlebitis / thrombophlebitis
- Wrist / carpal anomalies