Ataxia-telangiectasia |
Familial pancreatic carcinoma |
ATM | BRCA1 | |||
BRCA2 | ||||
CDKN2A | ||||
KRAS | ||||
MANF | ||||
PALB2 | ||||
SMAD4 | ||||
TP53 |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
ATM ATM ATM | (0.9) (0.9) (0.75) | BRCA1 TP53 BRCA2 | |
Citations in the biomedical literature:
Ataxia-telangiectasia |
Familial pancreatic carcinoma |
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Synonym(s): - Louis-Bar syndrome | Synonym(s): - Familial pancreatic cancer | ||
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 gastroenterologic disease - Rare genetic disease - Rare oncologic disease | ||
Classification (ICD10): - Diseases of the nervous system -
| Classification (ICD10): - Neoplasms -
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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: (no data available)
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External references: 2 OMIM references -
1 MeSH reference: D001260 | External references: 5 OMIM references - 1 MeSH reference: C535837 | ||
Ataxia-telangiectasia | |
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 - Autosomal recessive inheritance - Chromosome breakage - Immunodeficiency / increased susceptibility to infections / recurrent infections - Late puberty / hypogonadism / hypogenitalism - Lymphopenia - Movement disorder - Nystagmus - Premature ageing - 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 - Telangiectasiae of the skin - Thymic aplasia / hypoplasia - Tremor Frequent - Albinism (hair) - Diabetes mellitus - Elocution disorders / dysarthria / dysphonia - Hypertonia / spasticity / rigidity / stiffness - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Neoplasms / tumors - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism 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 - Skin hypoplasia / aplasia / atrophy - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia | |
Familial pancreatic carcinoma | |
(no data available) |