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Ataxia-telangiectasia
2 OMIM references -
1 associated gene
39 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 6
Non-polyposis Turcot syndrome
1 OMIM reference -
4 associated genes
55 signs/symptoms
Ataxia-telangiectasia
Non-polyposis Turcot syndrome

ATM
(UniProt - OMIM)
 MLH1
(UniProt - OMIM)
MSH2
(UniProt - OMIM)
MSH6
(UniProt - OMIM)
PMS2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ATM
ATM
ATM
(0.55)
(0.55)
(0.55)
MLH1
MSH2
MSH6


Citations in the biomedical literature:


Ataxia-telangiectasia
ATM
Non-polyposis Turcot syndrome
MLH1 MSH2 MSH6 PMS2



Ataxia-telangiectasia
Non-polyposis Turcot syndrome

Synonym(s):
- Louis-Bar syndrome
Synonym(s):
(no synonyms)
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 neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -
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)
External references:
2 OMIM references -
1 MeSH reference: D001260
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Abnormal gait
- Autosomal recessive inheritance
- Elocution disorders / dysarthria / dysphonia
- Hypertonia / spasticity / rigidity / stiffness
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Ataxia-telangiectasia
Non-polyposis Turcot syndrome

Very frequent
- Abnormal eye movements / oculomotor disorder
- 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
- Late puberty / hypogonadism / hypogenitalism
- Lymphopenia
- Movement disorder
- Nystagmus
- Premature ageing
- Premature greying of hair
- Repeat respiratory infections
- Strabismus / squint
- T-cell deficiency / cellular immunity deficiency
- Telangiectasiae of mucosae
- Telangiectasiae of the skin
- Thymic aplasia / hypoplasia
- Tremor

Frequent
- Albinism (hair)
- Diabetes mellitus
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Neoplasms / tumors
- 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
- Acute abdominal pain / colic
- Asthenia / fatigue / weakness
- Autosomal dominant inheritance
- Colon neoplasm / tumor / carcinoma / cancer
- Constipation
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Glial tumor / glioblastoma
- Intestinal transit disorder
- Malabsorption / chronic diarrhea / steatorrhea
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Cranial hypertension
- Death in infancy
- Early death in adulthood
- Facial pain / cephalalgia / migraine
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hypotonia
- Motor deficit / trouble
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Psychic / behavioural troubles
- Rectum / rectal neoplasm / tumor / carcinoma / cancer

Occasional
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Alexia / agraphia / writing / reading troubles
- Benign tumor of the brain / nervous system
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Delirium / hallucination
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Neuroblastoma
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Pituitary / hypophyseal neoplasm / tumor / carcinoma / cancer
- Polyposis of the bowel / colon / intestine
- Psychic / psychomotor regression / dementia / intellectual decline
- Pyramidal syndrome
- Sarcoma
- Skin tumors / lumps / epidermal cysts
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Thyroid neoplasm / tumor / carcinoma / cancer
- Transient amaurosis / acute visual trouble
- Troubles of memory / amnesia / hypermnesia
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer
- Visual loss / blindness / amblyopia
- Visual / auditory / tactile agnosia / propopagnosia / simultagnosia