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Ataxia-telangiectasia

2 OMIM references -
1 associated gene
39 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10

Werner syndrome

1 OMIM reference -
1 associated gene
56 signs/symptoms

Ataxia-telangiectasia

Werner syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ATM	(0.76)	WRN

Citations in the biomedical literature:

Ataxia-telangiectasia		Werner syndrome
	Synonym(s): - Louis-Bar syndrome		Synonym(s): - Adult progeria - WS

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare immune disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: autosomal recessive		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: 2 OMIM references - 1 MeSH reference: D001260		External references: 1 OMIM reference - 1 MeSH reference: D014898


COMMON SIGNS	- Autosomal recessive inheritance - Diabetes mellitus - Late puberty / hypogonadism / hypogenitalism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Neoplasms / tumors - Premature ageing - Short stature / dwarfism / nanism - Skin hypoplasia / aplasia / atrophy - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Telangiectasiae of the skin

Ataxia-telangiectasia		Werner syndrome
	Very frequent - Abnormal eye movements / oculomotor disorder - Abnormal gait - Abnormal hepatic enzymes / transaminases - Abnormal / polycystic ovaries - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Anomalies of skin, subcutaneous tissue and mucosae - Anomalies of the immunitary system - Ataxia / incoordination / trouble of the equilibrium - Chromosome breakage - Immunodeficiency / increased susceptibility to infections / recurrent infections - Lymphopenia - Movement disorder - Nystagmus - Premature greying of hair - Repeat respiratory infections - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Strabismus / squint - T-cell deficiency / cellular immunity deficiency - Telangiectasiae of mucosae - Thymic aplasia / hypoplasia - Tremor Frequent - Albinism (hair) - Elocution disorders / dysarthria / dysphonia - Hypertonia / spasticity / rigidity / stiffness - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Cafe-au-lait spot - Failure to thrive / difficulties for feeding in infancy / growth delay - Insulin-independent / type 2 diabetes - Intellectual deficit / mental / psychomotor retardation / learning disability		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 - 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 - Heart / cardiac failure - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - 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 - Small hand / acromicria - Sterility / hypofertility - 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