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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Brain Neoplasms (D001932)
Parent Node: Colorectal Neoplasms (D015179)
Parent Node: Neoplastic Syndromes, Hereditary (D009386)
..Starting node ..Turcot syndrome (C536928)
Child Nodes:
Sister Nodes:
..Adenomatous Polyposis Coli (D011125) 10
..Basal Cell Nevus Syndrome (D001478) 1
..Birt-Hogg-Dube Syndrome (D058249)
..Cancer, Familial, with In Vitro Radioresistance (C566179)
..Collagenoma, Familial Cutaneous (C562925)
..Colorectal Neoplasms, Hereditary Nonpolyposis (D003123) 10
..Diaphyseal medullary stenosis with malignant fibrous histiocytoma (C536169)
..Dysplastic Nevus Syndrome (D004416)
..Exostoses, Multiple Hereditary (D005097) 14
..Familial cylindromatosis (C536611)
..Genochondromatosis (C563215)
..Hamartoma Syndrome, Multiple (D006223) 10
..Hemangioma, capillary infantile (C535860)
..Hereditary Breast and Ovarian Cancer Syndrome (D061325)
..Juvenile polyposis syndrome (C537702)
..Li-Fraumeni Syndrome (D016864) 4
..Melanoma-Pancreatic Cancer Syndrome (C563985)
..Meningioma, familial (C537443)
..Multiple Endocrine Neoplasia (D009377) 6
..Myelocytic leukemia-like syndrome, familial, chronic (C536093)
..Neurofibromatoses (D017253) 13
..Paragangliomas 2 (C566646)
..Paragangliomas 3 (C565335)
..Peutz-Jeghers Syndrome (D010580)
..Prostate Cancer, Hereditary, 12 (C567510)
..Trichoepithelioma multiple familial (C536552)
..Tuberous Sclerosis (D014402) 4
..Turcot syndrome (C536928)
..Wilms Tumor (D009396) 10
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11346

Name:

Turcot syndrome

Definition:

Alternative IDs:

OMIM:276300

ParentIDs:

MESH:D001932|MESH:D009386|MESH:D015179

TreeNumbers:

C04.588.274.476.411.307/C536928 |C04.588.614.250.195/C536928 |C04.700/C536928 |C06.301.371.411.307/C536928 |C06.405.249.411.307/C536928 |C06.405.469.158.356/C536928 |C06.405.469.491.307/C536928 |C06.405.469.860.180/C536928 |C10.228.140.211/C536928 |C10.551.240.25

Synonyms:

Slim Mappings:

Cancer|Digestive system disease|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C536928
MeSH: C536928
OMIM: 276300;

Genes: MLH1; MSH2; MSH6; PMS2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001438	Abnormal abdomen morphology
3	HP:0001274	Agenesis of corpus callosum	HP:0040283
4	HP:0009592	Astrocytoma
5	HP:0000997	Axillary freckling
6	HP:0002671	Basal cell carcinoma
7	HP:0000957	Cafe-au-lait spot
8	HP:0002888	Ependymoma
9	HP:0012174	Glioblastoma multiforme
10	HP:0001034	Hypermelanotic macule
11	HP:0001909	Leukemia
12	HP:0002665	Lymphoma
13	HP:0002885	Medulloblastoma
14	HP:0003006	Neuroblastoma
15	HP:0002859	Rhabdomyosarcoma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000249.3(MLH1):c.104_105delTGinsAC (p.Met35Asn)	4292	MLH1	Pathogenic	121912965	RCV000018639; RCV000018640; RCV000075101;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005; MedGen:C1333991,OMIM:609310	3	37035142	37035143	NM_000249.3:c.104_105delTGinsAC	NP_000240.1:p.Met35Asn	NC_000003.11:g.37035142_37035143delTGinsAC	OMIM Allelic Variant:120436.0028	C1333990 Lynch syndrome; C1333991 609310 Lynch syndrome II; C0265325 276300 Turcot syndrome
NM_000249.3(MLH1):c.199G>T (p.Gly67Trp)	4292	MLH1	Pathogenic	63750206	RCV000018619; RCV000018618; RCV000075475;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005; MedGen:C1333991,OMIM:609310	3	37038192	37038192	NM_000249.3:c.199G>T	NP_000240.1:p.Gly67Trp	NC_000003.11:g.37038192G>A,NC_000003.11:g.37038192G>T	International Society for Gastrointestinal Hereditary Tumours:c.199G>T,OMIM Allelic Variant:120436.0011	C1333990 Lynch syndrome; C1333991 609310 Lynch syndrome II; C0265325 276300 Turcot syndrome
NM_000249.3(MLH1):c.218T>G (p.Leu73Arg)	4292	MLH1	Likely pathogenic;Pathogenic	397514684	RCV000035016; RCV000213759;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C3280492,OMIM:614327,ORPHA:289539	3	37042456	37042456	NM_000249.3:c.218T>G	NP_000240.1:p.Leu73Arg	NC_000003.11:g.37042456T>C,NC_000003.11:g.37042456T>G	OMIM Allelic Variant:120436.0034	C3280492 614327 Tumor predisposition syndrome; C0265325 276300 Turcot syndrome
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter)	4292	MLH1	Pathogenic	63751615	RCV000018617; RCV000018616; RCV000075801; RCV000202205; RCV000115485;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005; MedGen:C1333991,OMIM:609310; MedGen:CN221809	3	37053589	37053589	NM_000249.3:c.676C>T	NP_000240.1:p.Arg226Ter	NC_000003.11:g.37053589C>T	International Society for Gastrointestinal Hereditary Tumours:c.676C>T,OMIM Allelic Variant:120436.0010	C0027672 Hereditary cancer-predisposing syndrome; C1333990 Lynch syndrome; C1333991 609310 Lynch syndrome II; CN221809 not provided; C0265325 276300 Turcot syndrome
NM_000249.3(MLH1):c.1852_1854delAAG (p.Lys618del)	4292	MLH1	Pathogenic	63751247	RCV000018609; RCV000192399; RCV000075383; RCV000202279; RCV000129328;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005; MedGen:C1333991,OMIM:609310; MedGen:CN221809	3	37089130	37089132	NM_000249.3:c.1852_1854delAAG	NP_000240.1:p.Lys618del	NC_000003.11:g.37089130_37089132delAAG	International Society for Gastrointestinal Hereditary Tumours:c.1852_1854del,OMIM Allelic Variant:120436.0003,OMIM Allelic Variant:120436.0018	C0027672 Hereditary cancer-predisposing syndrome; C1333990 Lynch syndrome; C1333991 609310 Lynch syndrome II; CN221809 not provided; C0265325 276300 Turcot syndrome
NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser)	4292	MLH1	Pathogenic	63750899	RCV000018630; RCV000018629; RCV000075432; RCV000162472;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005; MedGen:C1333991,OMIM:609310	3	37090053	37090053	NM_000249.3:c.1942C>T	NP_000240.1:p.Pro648Ser	NC_000003.11:g.37090053C>T	International Society for Gastrointestinal Hereditary Tumours:c.1942C>T,OMIM Allelic Variant:120436.0020	C0027672 Hereditary cancer-predisposing syndrome; C1333990 Lynch syndrome; C1333991 609310 Lynch syndrome II; C0265325 276300 Turcot syndrome
NM_000251.2(MSH2):c.454delA (p.Met152Cysfs)	4436	MSH2	Pathogenic	63751449	RCV000001839; RCV000076602;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005	2	47637320	47637320	NM_000251.2:c.454delA	NP_000242.1:p.Met152Cysfs	NC_000002.11:g.47637320delA	International Society for Gastrointestinal Hereditary Tumours:c.454del,OMIM Allelic Variant:609309.0016	C1333990 Lynch syndrome; C0265325 276300 Turcot syndrome
NM_000251.2(MSH2):c.1662-1G>A	4436	MSH2	Pathogenic	267607970	RCV000001836; RCV000076224;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005	2	47698103	47698103	NM_000251.2:c.1662-1G>A		NC_000002.11:g.47698103G>A	International Society for Gastrointestinal Hereditary Tumours:c.1662-1G>A,OMIM Allelic Variant:609309.0014	C1333990 Lynch syndrome; C0265325 276300 Turcot syndrome
NM_000251.2(MSH2):c.2006-5T>A	4436	MSH2	Uncertain significance	267607990	RCV000001843; RCV000076351;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005	2	47703501	47703501	NM_000251.2:c.2006-5T>A		NC_000002.11:g.47703501T>A	International Society for Gastrointestinal Hereditary Tumours:c.2006-5T>A,OMIM Allelic Variant:609309.0020	C1333990 Lynch syndrome; C0265325 276300 Turcot syndrome
NM_000179.2(MSH6):c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu)	2956	MSH6	Uncertain significance	587776705	RCV000009496; RCV000074846;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005	2	48030772	48030774	NM_000179.2:c.3386_3388delGTG	NP_000170.1:p.Cys1129_Val1130delinsLeu		International Society for Gastrointestinal Hereditary Tumours:c.3386_3388del,OMIM Allelic Variant:600678.0014	C1333990 Lynch syndrome; C0265325 276300 Turcot syndrome
NM_000179.2(MSH6):c.3633dupT (p.Val1212Cysfs)	2956	MSH6	Pathogenic	587776706	RCV000009497;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008	2	48032833	48032833	NM_000179.2:c.3633dupT	NP_000170.1:p.Val1212Cysfs		OMIM Allelic Variant:600678.0015	C0265325 276300 Turcot syndrome
NM_000535.6(PMS2):c.2404C>T (p.Arg802Ter)	5395	PMS2	Pathogenic	63751466	RCV000009818; RCV000076858; RCV000129304;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005	7	6017260	6017260	NM_000535.6:c.2404C>T	NP_000526.2:p.Arg802Ter		International Society for Gastrointestinal Hereditary Tumours:c.2404C>T,OMIM Allelic Variant:600259.0004	C0027672 Hereditary cancer-predisposing syndrome; C1333990 Lynch syndrome; C0265325 276300 Turcot syndrome
NM_000535.6(PMS2):c.2002A>G (p.Ile668Val)	5395	PMS2	Pathogenic	869320619	RCV000172908;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008	7	6026394	6026394	NM_000535.6:c.2002A>G	NP_000526.2:p.Ile668Val	NC_000007.13:g.6026394T>C	OMIM Allelic Variant:600259.0019	C0265325 276300 Turcot syndrome
NM_000535.6(PMS2):c.1927C>T (p.Gln643Ter)	5395	PMS2	Pathogenic	63751422	RCV000148733; RCV000076835; RCV000223612; RCV000164116;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005; MedGen:CN221809	7	6026469	6026469	NM_000535.6:c.1927C>T	NP_000526.2:p.Gln643Ter		International Society for Gastrointestinal Hereditary Tumours:c.1927C>T	C0027672 Hereditary cancer-predisposing syndrome; C1333990 Lynch syndrome; CN221809 not provided; C0265325 276300 Turcot syndrome
NM_000535.6(PMS2):c.1306dupA (p.Ser436Lysfs)	5395	PMS2	Pathogenic	63750106	RCV000029204; RCV000076805;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005	7	6027090	6027090	NM_000535.6:c.1306dupA	NP_000526.2:p.Ser436Lysfs		International Society for Gastrointestinal Hereditary Tumours:c.1306dup,OMIM Allelic Variant:600259.0017	C1333990 Lynch syndrome; C0265325 276300 Turcot syndrome
NM_000535.6(PMS2):c.1221delG (p.Thr408Leufs)	5395	PMS2	Pathogenic	587776715	RCV000009816; RCV000076802;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005	7	6027175	6027175	NM_000535.6:c.1221delG	NP_000526.2:p.Thr408Leufs		International Society for Gastrointestinal Hereditary Tumours:c.1221del,OMIM Allelic Variant:600259.0002	C1333990 Lynch syndrome; C0265325 276300 Turcot syndrome
NM_000535.6(PMS2):c.400C>T (p.Arg134Ter)	5395	PMS2	Pathogenic	63750871	RCV000009815; RCV000076872; RCV000212842; RCV000115695;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005; MedGen:CN221809	7	6042221	6042221	NM_000535.6:c.400C>T	NP_000526.2:p.Arg134Ter		International Society for Gastrointestinal Hereditary Tumours:c.400C>T,OMIM Allelic Variant:600259.0001	C0027672 Hereditary cancer-predisposing syndrome; C1333990 Lynch syndrome; CN221809 not provided; C0265325 276300 Turcot syndrome
NM_000535.6(PMS2):c.219T>A (p.Cys73Ter)	5395	PMS2	Pathogenic	121434630	RCV000009830;	N	MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008	7	6043634	6043634	NM_000535.6:c.219T>A	NP_000526.2:p.Cys73Ter	NC_000007.13:g.6043634A>T	OMIM Allelic Variant:600259.0016	C0265325 276300 Turcot syndrome
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile)	5395	PMS2	Likely pathogenic	121434629	RCV000009826; RCV000056324; RCV000076807; RCV000200994; RCV000115657;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0265325,OMIM:276300, Orphanet:ORPHA252202,SNOMED CT:61665008; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005; MedGen:C1838333,OMIM:614337; MedGen:CN221809	7	6045549	6045549	NM_000535.6:c.137G>T	NP_000526.2:p.Ser46Ile		International Society for Gastrointestinal Hereditary Tumours:c.137G>T_2,OMIM Allelic Variant:600259.0012	C0027672 Hereditary cancer-predisposing syndrome; C1838333 614337 Hereditary nonpolyposis colorectal cancer type 4; C1333990 Lynch syndrome; CN221809 not provided; C0265325 276300 Turcot syndrome