HNPCC8
MCID: CLR089
MIFTS: 37

Colorectal Cancer, Hereditary Nonpolyposis, Type 8 (HNPCC8)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 8 57 13 70
Hereditary Nonpolyposis Colorectal Cancer Type 8 12 29 6 15
Hnpcc8 57 12 72
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 8 39
Hereditary Non-Polyposis Colorectal Cancer 8 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0070270
OMIM® 57 613244
OMIM Phenotypic Series 57 PS120435
MeSH 44 D003123
MedGen 41 C2750471
UMLS 70 C2750471

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

UniProtKB/Swiss-Prot : 72 Hereditary non-polyposis colorectal cancer 8: 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 8, also known as hereditary nonpolyposis colorectal cancer type 8, is related to atopic keratoconjunctivitis and senile ectropion. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 8 is EPCAM (Epithelial Cell Adhesion Molecule), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and Measles. Affiliated tissues include colon, small intestine and ovary, and related phenotypes are hereditary nonpolyposis colorectal carcinoma and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 A Lynch syndrome that has material basis in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.

More information from OMIM: 613244 PS120435

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 5 family:

Colorectal Cancer, Hereditary Nonpolyposis, Type 2 Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 atopic keratoconjunctivitis 10.2 MUC5AC MUC16
2 senile ectropion 10.2 MUC5AC MUC16
3 punctate epithelial keratoconjunctivitis 10.2 MUC5AC MUC16
4 postherpetic neuralgia 10.2 HLA-B HLA-A
5 frontal fibrosing alopecia 10.2 HLA-B HLA-A
6 htlv-1 associated myelopathy/tropical spastic paraparesis 10.2 HLA-B HLA-A
7 nontuberculous mycobacterial lung disease 10.2 HLA-B HLA-A
8 selective igg deficiency disease 10.1 HLA-B HLA-A
9 psoriasis 1 10.1 HLA-C HLA-B
10 mental retardation, autosomal dominant 40 10.1 HLA-B HLA-A
11 pars planitis 10.1 HLA-B HLA-A
12 chronic pyelonephritis 10.1 HLA-B HLA-A
13 cystadenofibroma 10.1 MUC16 MUC1
14 adenofibroma 10.1 MUC16 MUC1
15 pericardial mesothelioma 10.1 MUC16 MUC1
16 blepharitis 10.1 MUC5AC MUC16
17 tn polyagglutination syndrome 10.1 MUC16 MUC1
18 colloid carcinoma of the pancreas 10.1 MUC5AC MUC1
19 pancreatic signet ring cell adenocarcinoma 10.1 MUC5AC MUC1
20 signet ring cell adenocarcinoma 10.1 MUC5AC MUC1
21 intrahepatic biliary papillomatosis 10.1 MUC5AC MUC1
22 biliary papillomatosis 10.1 MUC5AC MUC1
23 chronic ethmoiditis 10.1 MUC5AC MUC1
24 birdshot chorioretinopathy 10.1 HLA-C HLA-A
25 urinary bladder villous adenoma 10.1 MUC5AC MUC1
26 villous adenoma 10.1 MUC5AC MUC1
27 bile duct mucinous adenocarcinoma 10.1 MUC5AC MUC1
28 mucinous intrahepatic cholangiocarcinoma 10.1 MUC5AC MUC1
29 cytomegalovirus retinitis 10.1 HLA-B HLA-A
30 bile duct cystadenocarcinoma 10.1 MUC5AC MUC1
31 bile duct mucoepidermoid carcinoma 10.0 MUC5AC MUC1
32 glandular cystitis 10.0 MUC5AC MUC1
33 pancreatic mucinous cystadenoma 10.0 MUC5AC MUC1
34 biliary tract benign neoplasm 10.0 MUC5AC MUC1
35 malignant exocrine pancreas neoplasm 10.0 MUC5AC MUC1
36 cholangitis, primary sclerosing 10.0 HLA-C HLA-A EPCAM
37 mucinous cystadenocarcinoma 10.0 MUC16 MUC1
38 solid adenocarcinoma with mucin production 10.0 MUC5AC MUC1
39 limbal stem cell deficiency 10.0 MUC5AC MUC1
40 acute cholangitis 10.0 MUC5AC MUC1
41 histoplasmosis 10.0 HLA-B HLA-A
42 appendix disease 10.0 MUC5AC MUC1
43 appendix cancer 10.0 MUC5AC MUC1
44 stevens-johnson syndrome/toxic epidermal necrolysis 10.0 HLA-C HLA-B HLA-A
45 epstein-barr virus hepatitis 10.0 HLA-C HLA-B HLA-A
46 pityriasis rosea 10.0 HLA-C HLA-B HLA-A
47 alveolar echinococcosis 10.0 HLA-C HLA-B HLA-A
48 paraneoplastic pemphigus 10.0 HLA-C HLA-B HLA-A
49 autoimmune gastritis 10.0 HLA-C HLA-B HLA-A
50 idiopathic bronchiectasis 10.0 HLA-C HLA-B HLA-A

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8:



Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

31
# Description HPO Frequency HPO Source Accession
1 hereditary nonpolyposis colorectal carcinoma 31 HP:0006716

Clinical features from OMIM®:

613244 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8 according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-103 10.9 HLA-A HLA-B HLA-C
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.9 HLA-A HLA-B HLA-C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.9 HLA-C
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 10.9 HLA-A HLA-B HLA-C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 10.9 HLA-A HLA-B HLA-C
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 10.9 HLA-A HLA-B HLA-C
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-202 10.9 HLA-C
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.9 HLA-A HLA-B HLA-C
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.9 HLA-A HLA-B HLA-C
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.9 HLA-C
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.9 HLA-C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.66 HLA-A HLA-B HLA-C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.66 HLA-C
14 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.66 HLA-C
15 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.66 HLA-C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.66 HLA-C
17 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.66 HLA-A HLA-B HLA-C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.66 HLA-C

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

# Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 8 29 EPCAM

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

40
Colon, Small Intestine, Ovary, Uterus

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Articles related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

# Title Authors PMID Year
1
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. 6 57
19098912 2009
2
Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. 57 6
16951683 2006
3
Recurrence and variability of germline EPCAM deletions in Lynch syndrome. 57
21309036 2011

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPCAM NR_030286.1(MIR559):n.278_23134del Deletion Pathogenic 12776 GRCh37:
GRCh38: 2:47377952-47400851
2 EPCAM NM_002354.2(EPCAM):c.859-1462_*1999del Deletion Pathogenic 12775 GRCh37: 2:47610843-47615751
GRCh38: 2:47383704-47388612
3 EPCAM NM_002354.2(EPCAM):c.556-14A>G SNV Pathogenic 157603 rs376155665 GRCh37: 2:47606078-47606078
GRCh38: 2:47378939-47378939
4 EPCAM NM_002354.2(EPCAM):c.179C>T (p.Ser60Leu) SNV Uncertain significance 239124 rs147494515 GRCh37: 2:47600704-47600704
GRCh38: 2:47373565-47373565
5 EPCAM NM_002354.2(EPCAM):c.577A>G (p.Ile193Val) SNV Uncertain significance 136027 rs200676965 GRCh37: 2:47606113-47606113
GRCh38: 2:47378974-47378974
6 EPCAM NM_002354.2(EPCAM):c.111C>G (p.Asn37Lys) SNV Uncertain significance 239119 rs543584983 GRCh37: 2:47600636-47600636
GRCh38: 2:47373497-47373497
7 EPCAM NM_002354.2(EPCAM):c.859-7C>T SNV Benign 258644 rs72882786 GRCh37: 2:47612298-47612298
GRCh38: 2:47385159-47385159
8 EPCAM NM_002354.2(EPCAM):c.426-20A>G SNV Benign 258643 rs6744170 GRCh37: 2:47602353-47602353
GRCh38: 2:47375214-47375214
9 EPCAM NM_002354.3(EPCAM):c.-1C>G SNV not provided 973066 GRCh37: 2:47596644-47596644
GRCh38: 2:47369505-47369505

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 8.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Pathways related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 ITGA5 HLA-C HLA-B HLA-A
2
Show member pathways
12.51 TMPRSS4 HLA-C HLA-B HLA-A
3 12.48 ITGA5 HLA-C HLA-B HLA-A
4
Show member pathways
12.39 SPP1 ITGA5 HLA-C HLA-B HLA-A
5 12.06 HLA-C HLA-B HLA-A
6 12.02 HLA-C HLA-B HLA-A
7
Show member pathways
11.96 MUC5AC MUC16 MUC1
8 11.83 HLA-C HLA-B HLA-A
9 11.78 HLA-C HLA-B HLA-A
10
Show member pathways
11.74 MUC5AC MUC16 MUC1
11 11.67 HLA-C HLA-B HLA-A
12 11.59 MUC1 ITGA5 EPCAM
13
Show member pathways
11.47 MUC5AC MUC16 MUC1
14 11.44 ITGA5 HLA-C HLA-B HLA-A
15 10.2 HLA-C HLA-B HLA-A

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Cellular components related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.18 TMPRSS4 PROM1 MUC16 MUC1 ITGA5 HLA-C
2 plasma membrane GO:0005886 10 TMPRSS4 PROM1 MUC5AC MUC16 MUC1 ITGA5
3 extracellular space GO:0005615 9.99 TMPRSS4 SPP1 PROM1 MUC5AC MUC16 MUC1
4 extracellular exosome GO:0070062 9.81 SPP1 PROM1 MUC5AC MUC16 MUC1 HLA-C
5 early endosome membrane GO:0031901 9.67 HLA-C HLA-B HLA-A
6 vesicle GO:0031982 9.67 SPP1 PROM1 MUC16 MUC1
7 Golgi lumen GO:0005796 9.65 MUC5AC MUC16 MUC1
8 recycling endosome membrane GO:0055038 9.63 HLA-C HLA-B HLA-A
9 phagocytic vesicle membrane GO:0030670 9.61 HLA-C HLA-B HLA-A
10 ER to Golgi transport vesicle membrane GO:0012507 9.58 HLA-C HLA-B HLA-A
11 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.5 HLA-C HLA-B HLA-A
12 cell surface GO:0009986 9.17 PROM1 ITGA5 HLA-C HLA-B HLA-A EPCAM
13 MHC class I protein complex GO:0042612 9.13 HLA-C HLA-B HLA-A

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.86 ITGA5 HLA-C HLA-B HLA-A
2 regulation of immune response GO:0050776 9.74 HLA-C HLA-B HLA-A
3 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.71 MUC5AC MUC16 MUC1
4 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.67 HLA-C HLA-B HLA-A
5 interferon-gamma-mediated signaling pathway GO:0060333 9.65 HLA-C HLA-B HLA-A
6 type I interferon signaling pathway GO:0060337 9.63 HLA-C HLA-B HLA-A
7 O-glycan processing GO:0016266 9.58 MUC5AC MUC16 MUC1
8 positive regulation of T cell mediated cytotoxicity GO:0001916 9.55 HLA-B HLA-A
9 antigen processing and presentation GO:0019882 9.54 HLA-C HLA-B HLA-A
10 detection of bacterium GO:0016045 9.52 HLA-B HLA-A
11 glomerular visceral epithelial cell differentiation GO:0072112 9.51 PROM1 CD24
12 protection from natural killer cell mediated cytotoxicity GO:0042270 9.43 HLA-B HLA-A
13 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.33 HLA-C HLA-B HLA-A
14 positive regulation of nephron tubule epithelial cell differentiation GO:2000768 9.32 PROM1 CD24
15 glomerular parietal epithelial cell differentiation GO:0072139 9.26 PROM1 CD24
16 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.13 HLA-C HLA-B HLA-A
17 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent GO:0002486 8.8 HLA-C HLA-B HLA-A

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 9.13 HLA-C HLA-B HLA-A
2 TAP binding GO:0046977 8.8 HLA-C HLA-B HLA-A

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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