MCID: CLR070
MIFTS: 16

Colorectal Cancer, Hereditary Nonpolyposis, Type 1 malady

Genetic diseases (common), Cancer diseases categories
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Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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

Description from OMIM:46 120435

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

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

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 1 46


Classifications:

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


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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Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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

32
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:

6 (show all 13)
id Gene Name 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 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 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

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

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Expression patterns in normal tissues for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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
  • Proteins
  • Lysates

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet