HNPCC5
MCID: CLR037
MIFTS: 27

Colorectal Cancer, Hereditary Nonpolyposis, Type 5 (HNPCC5) malady

Categories: Genetic diseases (common), Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Aliases & Descriptions for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 5 52 12 68
Hereditary Non-Polyposis Colorectal Cancer 5 70 27
 
Hnpcc5 70

Characteristics:

HPO:

64
colorectal cancer, hereditary nonpolyposis, type 5:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 614350
MedGen37 C1833477
MeSH39 D003123

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

About this section
UniProtKB/Swiss-Prot:70 Hereditary non-polyposis colorectal cancer 5: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.

MalaCards based summary: Colorectal Cancer, Hereditary Nonpolyposis, Type 5, also known as hereditary non-polyposis colorectal cancer 5, is related to colorectal cancer, hereditary nonpolyposis, type 1, and has symptoms including hereditary nonpolyposis colorectal carcinoma and endometrial carcinoma. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5 is MSH6 (MutS Homolog 6). Affiliated tissues include ovary, uterus and skin.

Description from OMIM:52 614350

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 1 family:

Colorectal Cancer, Hereditary Nonpolyposis, Type 8 colorectal cancer, hereditary nonpolyposis, type 5
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer, hereditary nonpolyposis, type 110.9

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Clinical features from OMIM:

614350

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

 64
id Description HPO Frequency HPO Source Accession
1 hereditary nonpolyposis colorectal carcinoma64 HP:0006716
2 endometrial carcinoma64 HP:0012114

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Drugs for Colorectal Cancer, Hereditary Nonpolyposis, Type 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
FluorouracilapprovedPhase 3185651-21-83385
Synonyms:
1-fluoro-1h-pyrimidine-2,4-dione
1004-03-1
1upf
2,4-Dihydroxy-5-fluoropyrimidine
2,4-Dioxo-5-fluoropryimidine
2,4-Dioxo-5-fluoropyrimidine
47576_FLUKA
4921-97-5
5 FU Lederle
5 FU medac
5 Fluorouracil
5 Fluorouracil biosyn
5 HU Hexal
5-FU
5-FU (TN)
5-FU Lederle
5-FU medac
5-Faracil
5-Fluor-2,4(1H,3H)-pyrimidindion
5-Fluor-2,4(1H,3H)-pyrimidindion [Czech]
5-Fluor-2,4-dihydroxypyrimidin
5-Fluor-2,4-dihydroxypyrimidin [Czech]
5-Fluor-2,4-pyrimidindiol
5-Fluor-2,4-pyrimidindiol [Czech]
5-Fluoracil
5-Fluoracil [German]
5-Fluoracyl
5-Fluoro-2,4(1H,3H)-pyrimidinedione
5-Fluoro-2,4-pyrimidinedione
5-Fluoropyrimidin-2,4-diol
5-Fluoropyrimidine-2,4-dione
5-Fluorouracil
5-Fluorouracil-biosyn
5-Fluoruracil
5-Fluoruracil [German]
5-Fluracil
5-Ftouracyl
5-HU Hexal
5-fluoro uracil
5-fluoro-1H-pyrimidine-2,4-dione
5-fluoropyrimidine-2,4(1H,3H)-dione
5-fluorouracil
51-21-8
5FU
79108-01-3
AC-11201
AC1L1FTE
AC1Q4N2X
AI3-25297
AKOS000119162
AKOS003237897
AccuSite
Actino-Hermal
Adrucil
Adrucil (TN)
Allergan Brand of Fluorouracil
Arumel
BB_NC-0576
BSPBio_002048
C07649
C4H3FN2O2
CCRIS 2582
CHEBI:46345
CHEMBL185
CID3385
CPD0-1327
CPD000038082
CSP Brand of Fluorouracil
Carac
Carac (TN)
Carzonal
Cinco FU
Cytosafe
D005472
D00584
DB00544
Dakota Brand of Fluorouracil
Dakota, Fluorouracile
Dermatech Brand of Fluorouracil
Dermik Brand of Fluorouracil
DivK1c_000054
EINECS 200-085-6
EU-0100536
Effluderm
Effluderm (free base)
Efudex
Efudix
Efurix
F 6627
F0151
F6627_SIGMA
F8423_SIGMA
FT-0082524
FU
Ferrer Brand of Fluorouracil
Fiverocil
Fluoro Uracil
Fluoro Uracile ICN
Fluoro-Uracile ICN
Fluoro-uracile
Fluoro-uracilo
Fluoroblastin
Fluoroplex
Fluoroplex (TN)
Fluorouracil
Fluorouracil (JP15/USP/INN)
Fluorouracil GRY
Fluorouracil Mononitrate
Fluorouracil Monopotassium Salt
Fluorouracil Monosodium Salt
Fluorouracil Potassium Salt
Fluorouracil Teva Brand
Fluorouracil [USAN:INN:BAN:JAN]
 
Fluorouracil-GRY
Fluorouracile
Fluorouracile Dakota
Fluorouracile [DCIT]
Fluorouracilo
Fluorouracilo Ferrer Far
Fluorouracilo [INN-Spanish]
Fluorouracilum
Fluorouracilum [INN-Latin]
Fluoruracil
Fluouracil
Flurablastin
Fluracedyl
Fluracil
Fluracilum
Fluri
Fluril
Fluro Uracil
Fluroblastin
Flurodex
Flurouracil
Flurox
Ftoruracil
Gry Brand of Fluorouracil
HMS1920O18
HMS2090I04
HMS2091F19
HMS500C16
HSDB 3228
Haemato Brand of Fluorouracil
Haemato fu
Haemato-fu
Hexal Brand of Fluorouracil
I07-0022
ICN Brand of Fluorouracil
IDI1_000054
IN1335
KBio1_000054
KBio2_001321
KBio2_003889
KBio2_006457
KBio3_001268
KBioGR_001253
KBioSS_001321
Kecimeton
LS-153
Lopac-F-6627
Lopac0_000536
MLS000069498
MLS002415705
MolPort-000-156-102
MolPort-003-990-447
MolPort-004-758-143
MolPort-004-758-144
MolPort-005-861-486
NCGC00015442-01
NCGC00015442-03
NCGC00015442-10
NCGC00091349-01
NCGC00091349-02
NCGC00091349-03
NCGC00091349-04
NCGC00091349-05
NCGC00091349-07
NCGC00091349-08
NCI60_001652
NINDS_000054
NSC 19893
NSC-19893
NSC19893
Neocorp Brand of Fluorouracil
Neofluor
Onkofluor
Onkoworks Brand of Fluorouracil
Phthoruracil
Phtoruracil
Queroplex
Ribofluor
Riemser Brand of Fluorouracil
Ro 2-9757
Ro-2-9757
Roche Brand of Fluorouracil
S1209_Selleck
SAM002264615
SMR000038082
SPBio_000291
SPECTRUM1500305
STK297802
Spectrum2_000076
Spectrum3_000434
Spectrum4_000557
Spectrum5_000718
Spectrum_000841
T5233394
TL8006093
Teva Brand of Fluorouracil
Timazin
U 8953
U-8953
UNII-U3P01618RT
UPCMLD-DP130
UPCMLD-DP130:001
URF
Ulup
WLN: T6MVMVJ EF
ZINC00897110
biosyn Brand of Fluorouracil
fluorouracil
inhibits thymilidate synthetase
medac Brand of Fluorouracil
nchembio.90-comp3
nchembio809-comp6
ribosepharm Brand of Fluorouracil
tetratogen
2
Oxaliplatinapproved, investigationalPhase 3146061825-94-35310940, 9887054, 6857599, 9887054, 43805
Synonyms:
CHEMBL1201055
CID9887054
D01790
DACPLAT
Diaminocyclohexane Oxalatoplatinum
Eloxatin
Eloxatin (TN)
Elplat
Foloxatine
L-OHP
Oxalatoplatin
 
Oxalatoplatinum
Oxaliplatin (JAN/USAN/INN)
Oxaliplatin [Usan:Inn:Ban]
Oxaliplatino [Spanish]
Oxaliplatinum [Latin]
Oxaloplatine [French]
Oxaloplatino [Spanish]
Transplatin
oxaliplatin
oxaliplatine
oxaliplatino
oxaliplatinum
3
Bevacizumabapproved, investigationalPhase 32020216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
4
LevoleucovorinapprovedPhase 372868538-85-2
Synonyms:
(6S)-5-Formyl-5,6,7,8-tetrahydrofolic acid
(6S)-5-formyltetrahydrofolic acid
(6S)-Folinic acid
(6S)-Leucovorin
 
(S)-Leucovorin
Citrovorum factor
L-Folinic acid
Levofolene
Levofolinic acid
N-[4-({[(6S)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)benzoyl]-L-glutamic acid
5
Aspirinapproved, vet_approvedPhase 3115250-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalicylsäure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide acetylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
Entericin
Enterophen
 
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
acide 2-(acétyloxy)benzoïque
acide acétylsalicylique
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
salicylic acid acetate
ácido acetilsalicílico
6
Folic Acidapproved, nutraceutical, vet_approvedPhase 3439259-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
7
leucovorinapproved, NutraceuticalPhase 3323558-05-954575, 6560146, 143
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyl-THF
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
8MicronutrientsPhase 36001
9Angiogenesis InhibitorsPhase 34257
10Immunosuppressive AgentsPhase 313086
11AntidotesPhase 31071
12Angiogenesis Modulating AgentsPhase 34185
13VitaminsPhase 35282
14Vitamin B ComplexPhase 34337
15Trace ElementsPhase 36001
16Protective AgentsPhase 37443
17ImmunoglobulinsPhase 36394
18MitogensPhase 31617
19Antibodies, MonoclonalPhase 34039
20Antimetabolites, AntineoplasticPhase 37361
21Immunoglobulin GPhase 3275
22AntimetabolitesPhase 312054
23Calcium, DietaryPhase 35713
24Bone Density Conservation AgentsPhase 33376
25HematinicsPhase 31684
26Endothelial Growth FactorsPhase 3382
27AntibodiesPhase 36394
28AntipyreticsPhase 31605
29Antirheumatic AgentsPhase 310956
30Cyclooxygenase InhibitorsPhase 32870
31Platelet Aggregation InhibitorsPhase 32516
32Peripheral Nervous System AgentsPhase 323689
33Fibrinolytic AgentsPhase 32388
34AnalgesicsPhase 311733
35Anti-Inflammatory Agents, Non-SteroidalPhase 34443
36Analgesics, Non-NarcoticPhase 36501
37Anti-Inflammatory AgentsPhase 310729
38FolateNutraceuticalPhase 34392
39Vitamin B9NutraceuticalPhase 34392
40ColaNutraceuticalPhase 31946
41
Pancrelipaseapproved97053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
42pancreatin970

Interventional clinical trials:

idNameStatusNCT IDPhase
1Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon CancerActive, not recruitingNCT00217737Phase 3
2Finding the Best Dose of Aspirin to Prevent Lynch Syndrome CancersNot yet recruitingNCT02497820Phase 3
3Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair or Microsatellite InstabilityNot yet recruitingNCT02912559Phase 3
4Hypodontia and Ovarian CancerUnknown statusNCT01470235
5Pancreatic Cancer Early Detection ProgramRecruitingNCT02206360

Search NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

id Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 527

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

36
Ovary, Uterus, Skin, Breast, Colon, Small intestine

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

70
id Symbol AA change Variation ID SNP ID
1MSH6p.Gly566ArgVAR_012959rs63749973
2MSH6p.Arg772TrpVAR_043958rs63750138
3MSH6p.Glu1163ValVAR_043969rs63750252
4MSH6p.Glu1193LysVAR_043970rs63751328

Clinvar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1MSH6NM_ 000179.2(MSH6): c.1805C> G (p.Ser602Ter)SNVPathogenicrs730881816GRCh38Chr 2, 47799788: 47799788
2MSH6NM_ 000179.2(MSH6): c.10C> T (p.Gln4Ter)SNVPathogenic/ Likely pathogenicrs786201042GRCh37Chr 2, 48010382: 48010382
3MSH6NM_ 000179.2(MSH6): c.908dupT (p.Met303Ilefs)duplicationPathogenic/ Likely pathogenicrs1057517551GRCh37Chr 2, 48026030: 48026030
4MSH6NM_ 000179.2(MSH6): c.3215_ 3222delGTCCTATG (p.Gly1072Valfs)deletionLikely pathogenicrs1057517552GRCh38Chr 2, 47803462: 47803469
5MSH6NM_ 000179.2(MSH6): c.3991C> T (p.Arg1331Ter)SNVPathogenicrs267608094GRCh37Chr 2, 48033780: 48033780
6MSH6NM_ 000179.2(MSH6): c.1444C> T (p.Arg482Ter)SNVPathogenicrs63750909GRCh37Chr 2, 48026566: 48026566
7MSH6NM_ 000179.2(MSH6): c.2150_ 2153delTCAG (p.Val717Alafs)deletionPathogenicrs267608058GRCh37Chr 2, 48027272: 48027275
8MSH6NM_ 000179.2(MSH6): c.2535dupT (p.Glu846Terfs)duplicationPathogenicrs587779241GRCh37Chr 2, 48027657: 48027657
9MSH6MSH6, 1-BP DEL, LEU222TERdeletionPathogenic
10MSH6MSH6, 1-BP DEL, 594TdeletionPathogenic
11MSH6NM_ 000179.2(MSH6): c.2731C> T (p.Arg911Ter)SNVPathogenicrs63751017GRCh37Chr 2, 48027853: 48027853
12MSH6NM_ 000179.2(MSH6): c.651dupT (p.Lys218Terfs)duplicationPathogenicrs63750955GRCh37Chr 2, 48025773: 48025773
13MSH6NM_ 000179.2(MSH6): c.1602delC (p.Tyr535Thrfs)deletionPathogenicrs63751234GRCh37Chr 2, 48026724: 48026724
14MSH6NM_ 000179.2(MSH6): c.3053_ 3054delTC (p.Leu1018Hisfs)deletionPathogenicrs63751407GRCh37Chr 2, 48028175: 48028176
15MSH6MSH6, 13-KB DELdeletionPathogenic
16MSH6NM_ 000179.2(MSH6): c.3261dupC (p.Phe1088Leufs)duplicationPathogenicrs267608087GRCh37Chr 2, 48030647: 48030647
17MSH6NM_ 000179.2(MSH6): c.1573_ 3439-429dupinsTATduplicationPathogenicGRCh38Chr 2, 47799556: 47804481
18MSH6NM_ 000179.2(MSH6): c.3311_ 3312delTT (p.Phe1104Trpfs)deletionPathogenicrs267608092GRCh37Chr 2, 48030697: 48030698
19MSH6MSH6, TRP1024TERundetermined variantPathogenic
20MSH6NM_ 000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs)duplicationPathogenicrs63751327GRCh37Chr 2, 48032124: 48032124
21MSH6NM_ 000179.2(MSH6): c.3840_ 3846delGGAGACT (p.Glu1281Leufs)deletionPathogenicrs63751319GRCh37Chr 2, 48033629: 48033635
22MSH6NM_ 000179.2(MSH6): c.3959_ 3962delCAAG (p.Ala1320Glufs)deletionPathogenicrs267608120GRCh37Chr 2, 48033748: 48033751

Expression for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 5.

Pathways for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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GO Terms for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet