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Non-polyposis Turcot syndrome
1 OMIM reference -
4 associated genes
55 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Lethal acantholytic epidermolysis bullosa
1 OMIM reference -
2 associated genes
10 signs/symptoms
Non-polyposis Turcot syndrome
Lethal acantholytic epidermolysis bullosa

MLH1
(UniProt - OMIM)
 DSP
(UniProt - OMIM)
MSH2
(UniProt - OMIM)
 JUP
(UniProt - OMIM)
MSH6
(UniProt - OMIM)
PMS2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MSH2
(0.63)
JUP


Citations in the biomedical literature:


Non-polyposis Turcot syndrome
MLH1 MSH2 MSH6 PMS2
Lethal acantholytic epidermolysis bullosa
DSP JUP



Non-polyposis Turcot syndrome
Lethal acantholytic epidermolysis bullosa

Synonym(s):
(no synonyms)

Synonym(s):
- LAEB
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535493
COMMON
SIGNS 		- Autosomal recessive inheritance

Non-polyposis Turcot syndrome
Lethal acantholytic epidermolysis bullosa

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
- 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
- Absent / small fingernails / anonychia of hands
- Alopecia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Premature eruption of teeth / natal teeth
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis