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Non-polyposis Turcot syndrome
1 OMIM reference -
4 associated genes
55 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
Dubowitz syndrome
1 OMIM reference -
1 associated gene
79 signs/symptoms
Non-polyposis Turcot syndrome
Dubowitz syndrome

MLH1
(UniProt - OMIM)
 NSUN2
(UniProt - OMIM)
MSH2
(UniProt - OMIM)
MSH6
(UniProt - OMIM)
PMS2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PMS2
(0.72)
NSUN2


Citations in the biomedical literature:


Non-polyposis Turcot syndrome
MLH1 MSH2 MSH6 PMS2
Dubowitz syndrome
NSUN2



Non-polyposis Turcot syndrome
Dubowitz syndrome

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535718
COMMON
SIGNS 		- Autosomal recessive inheritance
- Hyperactivity / attention deficit
- Malabsorption / chronic diarrhea / steatorrhea
- Seizures / epilepsy / absences / spasms / status epilepticus

Non-polyposis Turcot syndrome
Dubowitz syndrome

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
- 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
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Motor deficit / trouble
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Psychic / behavioural troubles
- Rectum / rectal neoplasm / tumor / carcinoma / cancer

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
- Broad / bifid thumb
- Flat supraorbital ridge
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Short stature / dwarfism / nanism
- Telecanthus / canthal dystopy
- Thumb hypoplasia / aplasia / absence

Frequent
- Antihelix anomaly
- Blepharophimosis / short palpebral fissures
- Clinodactyly of fifth finger
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Delayed bone age
- Depressed nasal bridge
- Eczema
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fine hair
- Hearing loss / hypoacusia / deafness
- Hypospadias / epispadias / bent penis
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Large fontanelle / delayed fontanelle closure
- Lateral thinning of eyebrows
- Low hair line-front
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow face
- Prominent / bat ears
- Ptosis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sloping forehead
- Small foot
- Small hand / acromicria
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Wide space between 1st-2nd toes

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Anaemia
- Anus / rectum anomalies
- Asthma / bronchospasm
- Cataract / lens opacification
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Craniostenosis / craniosynostosis / sutural synostosis
- Cutis marmorata / marbled skin / livedo
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dry / squaly skin / exfoliation
- Hematologic / blood / lymphatic cancer
- High vaulted / narrow palate
- Hydrocephaly
- Hyperextensible joints / articular hyperlaxity
- Hypoparathyroidy
- Lymphoma
- Macrostomia / big mouth
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Metatarsus adductus
- Myopia
- Neoplasms / tumors
- Nystagmus
- Pectus excavatum
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sacral sinus / dimple
- Scoliosis
- Short hand / brachydactyly
- Skin photosensitivity
- Spina bifida occulta
- Strabismus / squint
- Syndactyly of toes
- Talipes-varus / metatarsal varus
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Thrombocytopenia / thrombopenia