Non-polyposis Turcot syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BRAIN TUMOR-POLYPOSIS SYNDROME 1
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME
MMR DEFICIENCY
CMMRDS
TURCOT SYNDROME
BTP1 SYNDROME
CHILDHOOD CANCER SYNDROME
MISMATCH REPAIR DEFICIENCY
BTPS1
MMRCS
Number of Symptoms 68
OrphanetNr: 99817
OMIM Id: 276300
ICD-10: C18
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hereditary nonpolyposis colon cancer
 -Rare gastroenterologic disease
 -Rare genetic disease
 -Rare oncologic disease
Inherited nervous system cancer-predisposing syndrome
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0010784) Uterine neoplasm Occasional [Orphanet] 13 / 7739
2
(HPO:0100615) Ovarian neoplasm Occasional [Orphanet] 25 / 7739
3
(HPO:0010786) Urinary tract neoplasm Occasional [Orphanet] 7 / 7739
4
(HPO:0100576) Amaurosis fugax Occasional [Orphanet] 13 / 7739
5
(HPO:0001123) Visual field defect Occasional [Orphanet] 30 / 7739
6
(HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
7
(HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
8
(HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
9
(HPO:0100843) Glioblastoma 3 / 7739
10
(HPO:0100022) Abnormality of movement Occasional [Orphanet] 129 / 7739
11
(HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
12
(HPO:0000763) Sensory neuropathy Occasional [Orphanet] 78 / 7739
13
(HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
14
(HPO:0009592) Astrocytoma 15 / 7739
15
(HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
16
(HPO:0100006) Neoplasm of the central nervous system Occasional [Orphanet] 34 / 7739
17
(HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
18
(HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
19
(HPO:0003006) Neuroblastoma Occasional [Orphanet] 16 / 7739
20
(HPO:0000738) Hallucinations Occasional [Orphanet] 60 / 7739
21
(HPO:0002354) Memory impairment Occasional [Orphanet] 63 / 7739
22
(HPO:0007256) Abnormal pyramidal signs Occasional [Orphanet] 116 / 7739
23
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
24
(HPO:0010524) Agnosia Occasional [Orphanet] 6 / 7739
25
(HPO:0002516) Increased intracranial pressure Frequent [Orphanet] 47 / 7739
26
(HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
27
(HPO:0009733) Glioma Very frequent [Orphanet] 8 / 7739
28
(HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
29
(HPO:0100835) Benign neoplasm of the central nervous system Occasional [Orphanet] 12 / 7739
30
(HPO:0002885) Medulloblastoma 20 / 7739
31
(HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
32
(HPO:0002888) Ependymoma 10 / 7739
33
(HPO:0011750) Neoplasm of the anterior pituitary Occasional [Orphanet] 6 / 7739
34
(HPO:0100031) Neoplasm of the thyroid gland Occasional [Orphanet] 15 / 7739
35
(HPO:0010622) Neoplasm of the skeletal system Occasional [Orphanet] 30 / 7739
36
(HPO:0100273) Neoplasm of the colon Very frequent [Orphanet] 18 / 7739
37
(HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
38
(HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
39
(HPO:0002894) Neoplasm of the pancreas Occasional [Orphanet] 17 / 7739
40
(HPO:0200008) Intestinal polyposis Occasional [Orphanet] 23 / 7739
41
(HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
42
(HPO:0002239) Gastrointestinal hemorrhage Very frequent [Orphanet] 97 / 7739
43
(HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
44
(HPO:0002896) Neoplasm of the liver Occasional [Orphanet] 17 / 7739
45
(HPO:0100743) Neoplasm of the rectum Frequent [Orphanet] 6 / 7739
46
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
47
(HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
48
(HPO:0000997) Axillary freckling 9 / 7739
49
(HPO:0002671) Basal cell carcinoma 18 / 7739
50
(HPO:0000957) Cafe-au-lait spot 84 / 7739
51
(HPO:0001034) Hypermelanotic macule 22 / 7739
52
(HPO:0002665) Lymphoma 60 / 7739
53
(HPO:0001909) Leukemia 46 / 7739
54
(HPO:0100242) Sarcoma Occasional [Orphanet] 27 / 7739
55
(HPO:0002859) Rhabdomyosarcoma 10 / 7739
56
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
57
(HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
58
(HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
59
(OMIM) Colonic adenocarcinoma 2 / 7739
60
(OMIM) Intracerebral cysts 4 / 7739
61
(OMIM) Gray matter heterotopia (in some patients) 2 / 7739
62
(HPO:0030448) Soft tissue sarcoma Occasional [Orphanet] 18 / 7739
63
(HPO:0100613) Death in early adulthood Frequent [Orphanet] 10 / 7739
64
(OMIM) Adenomatous colonic polyps 2 / 7739
65
(MedDRA:10030286) Oligodendroglioma 5 / 7739
66
(HPO:0012719) Functional abnormality of the gastrointestinal tract Very frequent [Orphanet] 17 / 7739
67
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
68
(HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Constitutional mismatch repair deficiency is a rare childhood cancer syndrome with 4 main tumor types: hematologic malignancies, brain/central nervous system tumors, colorectal tumors and multiple intestinal polyps, and other malignancies including embryonic tumors and rhabdomyosarcoma. Many patients show ...
Clinical Description OMIM Turcot et al. (1959) reported a brother and sister with malignant tumors of the central nervous system associated with colonic polyps. The brother had a medulloblastoma of the spinal cord and colorectal adenocarcinomas; the sister had glioblastoma multiforme ...
Molecular genetics OMIM Hamilton et al. (1995) studied 14 families with the clinical designation of 'Turcot syndrome' identified in 2 registries, and the family originally described by Turcot et al. (1959). Studies on autopsy slides of the glioblastoma and rectal adenoma ...