Papilloma of choroid plexus |
Werner syndrome |
TP53 | WRN |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
TP53 | (0.9) | WRN | |
Citations in the biomedical literature:
Papilloma of choroid plexus |
Werner syndrome |
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Synonym(s): (no synonyms)
| Synonym(s): - Adult progeria- WS | ||
Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease | Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease | ||
Classification (ICD10): - Neoplasms -
| Classification (ICD10): - Endocrine, nutritional and metabolic diseases -
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Epidemiological data: (no data available)
| Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal recessive | ||
External references: 1 OMIM reference -
1 MeSH reference: D020288 | External references: 1 OMIM reference - 1 MeSH reference: D014898 | ||
COMMON SIGNS |
- Autosomal recessive inheritance - Neoplasms / tumors |
Papilloma of choroid plexus |
Werner syndrome |
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Very frequent - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Hydrocephaly - Structural anomalies of the nervous system Occasional - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Mild visual loss / impaired visual acuity - Seizures / epilepsy / absences / spasms / status epilepticus | Very frequent - Abnormal fall of hair - Anomalies of chest / thorax / trunk - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Beaked nose - Cataract / lens opacification - Global upper and lower limbs anomalies - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Lipoatrophy - Pili torti - Premature ageing - Short stature / dwarfism / nanism - White forelock / piebaldism Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Abnormal fat distribution / lipodystrophy - Angor pectoris / myocardial infarction - Arterial pulse abolition - Chronic skin infection / ulcerations / ulcers / cancrum - Diabetes mellitus - Heart / cardiac failure - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Late puberty / hypogonadism / hypogenitalism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Narrow face - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Osteosclerosis / osteopetrosis / bone condensation - Periarticular tissue anomaly / extraarticular calcifications - Pes talus - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Retinitis pigmentosa / retinal pigmentary changes - Skin hypoplasia / aplasia / atrophy - Small hand / acromicria - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Sterility / hypofertility - Telangiectasiae of the skin - Testis anomalies - Tight skin / lack of elasticity Occasional - Autosomal dominant inheritance - Breast neoplasm / tumor / carcinoma / cancer - Cerebral vascular anomalies - Chronic arterial hypertension - Digestive neoplasm / tumor / carcinoma / cancer - Kidney / renal neoplasm / tumor / carcinoma / cancer - Laryngomalacia - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Meningioma - Oral cavity / tongue neoplasm / tumor / carcinoma / cancer - Oropharyngeal neoplasm / tumor / carcinoma / cancer - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Precocious menopause / secondary amenorrhea - Restricted joint mobility / joint stiffness / ankylosis - Sarcoma - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Small bowel neoplasm / tumor / carcinoma / cancer - Thyroid neoplasm / tumor / carcinoma / cancer |