MCID: CLR070
MIFTS: 31

Colorectal Cancer, Hereditary Nonpolyposis, Type 1 malady

Genetic diseases (common), Cancer diseases categories

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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OMIM:47 Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic... (120435) more...

MalaCards based summary: Colorectal Cancer, Hereditary Nonpolyposis, Type 1, also known as lynch syndrome i, is related to lynch syndrome and colorectal cancer, and has symptoms including autosomal dominant inheritanceand colon cancer. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1 is MSH2 (mutS homolog 2). Affiliated tissues include colon and skin.

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Sources:
47OMIM, 11diseasecard, 24GTR, 45Novoseek
See all sources

Colorectal Cancer, Hereditary Nonpolyposis, Type 1, Aliases & Descriptions:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 1 47 11 24
Lynch Syndrome I 47 45
 
Lynch Syndrome 1 24


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common), Cancer diseases


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OMIM47 120435

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Symptoms for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Symptoms by clinical synopsis from OMIM:

120435

Clinical features from OMIM:

120435

HPO human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 colon cancer HP:0003003

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Drug clinical trials:

Search ClinicalTrials for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Search NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

id Genetic test Affiliating Genes
1 Lynch Syndrome I24
2 Colorectal Cancer, Hereditary, Nonpolyposis, Type 124

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

33
Colon, Skin

Animal Models for Colorectal Cancer, Hereditary Nonpolyposis, Type 1 or affiliated genes

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Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

64 (show all 61)
id Symbol AA change Variation ID SNP ID
1MSH2p.His46GlnVAR_004470rs33946261
2MSH2p.Asn139SerVAR_004472
3MSH2p.Ile145MetVAR_004473rs63750124
4MSH2p.Asp167HisVAR_004474
5MSH2p.Ala305ThrVAR_004476
6MSH2p.Arg524ProVAR_004479
7MSH2p.Glu562ValVAR_004480
8MSH2p.Pro622LeuVAR_004482rs28929483
9MSH2p.His639TyrVAR_004483rs28929484
10MSH2p.Gly674SerVAR_004485
11MSH2p.Cys697PheVAR_004486
12MSH2p.Ala834ThrVAR_004488
13MSH2p.Gly692ArgVAR_009250
14MSH2p.Cys697ArgVAR_009251
15MSH2p.Val161AspVAR_012936
16MSH2p.Ala636ProVAR_012944
17MSH2p.Met688IleVAR_012945rs63750790
18MSH2p.Lys845GluVAR_013172rs63750571
19MSH2p.Asn127SerVAR_019234rs17217772
20MSH2p.Val163GlyVAR_022670
21MSH2p.Asp660GlyVAR_022671
22MSH2p.Thr33ProVAR_043738
23MSH2p.Thr44MetVAR_043740
24MSH2p.Ala45ValVAR_043741
25MSH2p.Leu93PheVAR_043743
26MSH2p.Val102IleVAR_043745
27MSH2p.Lys110ThrVAR_043746
28MSH2p.Gly162ArgVAR_043747
29MSH2p.Val163AspVAR_043748
30MSH2p.Gly164ArgVAR_043749
31MSH2p.Leu173ProVAR_043751
32MSH2p.Leu175ProVAR_043752
33MSH2p.Leu187ProVAR_043753
34MSH2p.Asp283TyrVAR_043757
35MSH2p.Cys333TyrVAR_043759
36MSH2p.Pro336SerVAR_043761
37MSH2p.Pro349LeuVAR_043763
38MSH2p.Arg359SerVAR_043764
39MSH2p.Lys393MetVAR_043765
40MSH2p.Met492ValVAR_043767
41MSH2p.Thr552ProVAR_043768
42MSH2p.Asn583SerVAR_043770
43MSH2p.Ala600ValVAR_043771
44MSH2p.Asp603AsnVAR_043772
45MSH2p.His639ArgVAR_043775
46MSH2p.Glu647LysVAR_043776
47MSH2p.Tyr656HisVAR_043777
48MSH2p.Ile679ThrVAR_043779
49MSH2p.Ser723PheVAR_043781
50MSH2p.Met729ValVAR_043782
51MSH2p.Thr732IleVAR_043783
52MSH2p.Glu749LysVAR_043785
53MSH2p.Met813ValVAR_043786
54MSH2p.His839ArgVAR_043788
55MSH2p.Glu886GlyVAR_043793
56MSH2p.Lys931ThrVAR_043795
57MSH2p.Ala2ThrVAR_054511
58MSH2p.Gly162AlaVAR_054512
59MSH2p.Glu198GlyVAR_054513
60MSH2p.Gly674ArgVAR_067288
61MSH2p.Gly669ArgVAR_067761

Clinvar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

7 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1MSH2NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)single nucleotide variantPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
2MSH2MSH2, DEL 50 CODONSdeletionPathogenic
3MSH2NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)single nucleotide variantPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
4MSH2NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
5MSH2NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
6MSH2NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)single nucleotide variantLikely pathogenic, Pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
7MSH2NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
8MSH2NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro)single nucleotide variantPathogenicrs63750875GRCh37Chr 2, 47702310: 47702310
9MSH2nsv513794deletionPathogenic
10MSH2NG_007110.2: g.4247_24291deldeletionPathogenicGRCh38Chr 2, 47402370: 47422414
11MSH2NM_000251.2(MSH2): c.942+3A> Tsingle nucleotide variantPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
12MSH2NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs)deletionPathogenicGRCh37Chr 2, 47690240: 47690243
13MSH2NM_000251.2(MSH2): c.388_389delCA (p.Gln130Valfs)deletionPathogenicrs63750704GRCh37Chr 2, 47637254: 47637255

Cosmic variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
15671CTNNB1endometrium,NS,carcinoma,undifferentiated carcinoma3
25672CTNNB1endometrium,NS,carcinoma,undifferentiated carcinoma3
3516KRASendometrium,NS,carcinoma,undifferentiated carcinoma3

Expression for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 1.

Pathways for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Compounds for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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GO Terms for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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Products for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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  • Antibodies
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  • Lysates
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  • Proteins
  • Kits and Assays

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet