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1 OMIM reference -
4 associated genes
55 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
38 signs/symptoms
Non-polyposis Turcot syndrome
Autosomal dominant hyper-IgE syndrome

MLH1 STAT3
MSH2
MSH6
PMS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MSH2
(0.63)
STAT3



Citations in the biomedical literature:


Non-polyposis Turcot syndrome
MLH1 MSH2 MSH6 PMS2
Autosomal dominant hyper-IgE syndrome
STAT3



Non-polyposis Turcot syndrome
Autosomal dominant hyper-IgE syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- AD-HIES
- Autosomal dominant HIES
- Autosomal dominant hyperimmunoglobulin E syndrome
- Buckley syndrome
- Hyperimmunoglobulin E syndrome type 1
- Hyperimmunoglobulin E-recurrent infection syndrome
- Job syndrome

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance
- Autosomal recessive inheritance


Non-polyposis Turcot syndrome
Autosomal dominant hyper-IgE syndrome

Very frequent
- Acute abdominal pain / colic
- Asthenia / fatigue / weakness
- 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
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Motor deficit / trouble
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Psychic / behavioural troubles
- Rectum / rectal neoplasm / tumor / carcinoma / cancer
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Abnormal gait
- 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
- Elocution disorders / dysarthria / dysphonia
- 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
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- 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


Very frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Atelectasia / pulmonary collapse
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Eczema
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Pruritus / itching
- Repeat respiratory infections

Frequent
- Anomalies of teeth and dentition
- Broad nose / nasal bridge
- Chronic / relapsing otitis
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cough
- Deepset eyes / enophthalmos
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dysplastic / thick / grooved fingernails
- Eosinophils anomalies / hypereosinophilia
- Face / facial anomalies
- Follicular / erythematous / edematous papules / milium
- Frontal bossing / prominent forehead
- Gingivitis
- Hair and scalp anomalies
- Hyperextensible joints / articular hyperlaxity
- Mutiple fractures / bone fragility
- Onyxis / paronyxis / ungual inflammation
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Scoliosis

Occasional
- Arterial aneurism (excluding aorta)
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Craniostenosis / craniosynostosis / sutural synostosis
- Fever / chilling
- Lymphoma
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment