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Ataxia-telangiectasia
2 OMIM references -
1 associated gene
39 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Peutz-Jeghers syndrome
1 OMIM reference -
1 associated gene
32 signs/symptoms
Ataxia-telangiectasia
Peutz-Jeghers syndrome

ATM
(UniProt - OMIM)
 STK11
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ATM
(0.65)
STK11


Citations in the biomedical literature:


Ataxia-telangiectasia
ATM
Peutz-Jeghers syndrome
STK11



Ataxia-telangiectasia
Peutz-Jeghers syndrome

Synonym(s):
- Louis-Bar syndrome
Synonym(s):
- Hamartomatous intestinal polyposis
- PJS
- Polyps and spots syndrome
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 gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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 / 100 000
Average age onset: adolescence / young
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: D001260
External references:
1 OMIM reference -
1 MeSH reference: D010580
COMMON
SIGNS 		- Neoplasms / tumors

Ataxia-telangiectasia
Peutz-Jeghers 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
- 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
- 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


Very frequent
- Abnormal pigmentation of the oral mucosa / gingivae
- Autosomal dominant inheritance
- Digestive neoplasm / tumor / carcinoma / cancer
- Macules
- Pigmented naevi / naevus pigmentosus / lentigo

Frequent
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia

Occasional
- Abnormal nails colour / leukonychia / melanonychia
- Acute abdominal pain / colic
- Anaemia
- Anus / rectum anomalies
- Bladder and ureter anomalies
- Breast neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Esophageal neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Extrahepatic biliary tract / gallbladder neoplasm / tumor / carcinoma / cancer
- Head and neck neoplasm / tumor / carcinoma / cancer
- Intestinal obstruction / ileus
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Mesenteric / intestinal infarction
- Nasal polyposis
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Nose / nasal sinus neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Rectum / rectal neoplasm / tumor / carcinoma / cancer
- Small bowel neoplasm / tumor / carcinoma / cancer
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer