HNPCC7
MCID: CLR100
MIFTS: 36

Colorectal Cancer, Hereditary Nonpolyposis, Type 7 (HNPCC7)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 7 57 73
Hereditary Nonpolyposis Colorectal Cancer Type 7 12 29 6 15
Hnpcc7 57 75
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 7 40
Hereditary Non-Polyposis Colorectal Cancer 7 75
Hnpcc4 12

Characteristics:

HPO:

32
colorectal cancer, hereditary nonpolyposis, type 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614385
Disease Ontology 12 DOID:0070276
MedGen 42 C1858380
MeSH 44 D003123
SNOMED-CT via HPO 69 263681008 254764001
UMLS 73 C1858380

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

UniProtKB/Swiss-Prot : 75 Hereditary non-polyposis colorectal cancer 7: 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 7, also known as hereditary nonpolyposis colorectal cancer type 7, is related to colorectal cancer, hereditary nonpolyposis, type 4 and appendix carcinoid tumor. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 7 is MLH3 (MutL Homolog 3), and among its related pathways/superpathways are DNA Damage and Meiosis. Affiliated tissues include skin, colon and breast, and related phenotypes are hereditary nonpolyposis colorectal carcinoma and Decreased viability

Disease Ontology : 12 A Lynch syndrome that has material basis in mutation in the MLH3 gene on chromosome 14q24.3.

Description from OMIM: 614385

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 6 family:

Colorectal Cancer, Hereditary Nonpolyposis, Type 2 Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 colorectal cancer, hereditary nonpolyposis, type 4 31.9 MLH1 MSH2
2 appendix carcinoid tumor 9.9 MLH1 MSH2
3 adenosquamous colon carcinoma 9.9 MLH1 MSH2
4 sebaceous adenoma 9.9 MLH1 MSH2
5 adenoma 9.9 MLH1 MSH2
6 lower lip cancer 9.9 MLH1 MSH2
7 anal fistula 9.9 MLH1 MSH2
8 melanocytic nevus syndrome, congenital 9.9 MLH1 MSH2
9 childhood kidney cell carcinoma 9.9 MLH1 MSH2
10 cecum adenocarcinoma 9.9 MLH1 MSH2
11 lynch syndrome i 9.9 MLH1 MSH2
12 sebaceous adenocarcinoma 9.9 MLH1 MSH2
13 intestinal benign neoplasm 9.9 MLH1 MSH2
14 muir-torre syndrome 9.9 MLH1 MSH2
15 keratoacanthoma 9.9 MLH1 MSH2
16 skin benign neoplasm 9.9 MLH1 MSH2
17 small intestine cancer 9.9 MLH1 MSH2
18 mismatch repair cancer syndrome 9.9 MLH1 MSH2
19 colorectal cancer, hereditary nonpolyposis, type 5 9.9 MLH1 MSH2
20 familial colorectal cancer 9.9 MLH1 MSH2
21 uterine anomalies 9.9 MLH1 MSH2
22 colorectal adenoma 9.9 MLH1 MSH2
23 colonic disease 9.9 MLH1 MSH2
24 colorectal adenocarcinoma 9.9 MLH1 MSH2
25 female reproductive system disease 9.9 MLH1 MSH2
26 rectal neoplasm 9.9 MLH1 MSH2
27 autosomal genetic disease 9.9 MLH1 MSH2
28 intestinal disease 9.8 MLH1 MSH2
29 gastrointestinal system cancer 9.8 MLH1 MSH2
30 familial adenomatous polyposis 9.8 MLH1 MSH2
31 gastrointestinal system disease 9.8 MLH1 MSH2
32 ulcerative colitis 9.8 MLH1 MSH2
33 autosomal dominant disease 9.7 MLH1 MLH3 MSH2
34 lynch syndrome 9.7 MLH1 MLH3 MSH2
35 large intestine cancer 9.7 MLH1 MLH3 MSH2
36 adamantinoma of long bones 9.7 MLH1 MSH2
37 endometrial cancer 9.7 MLH1 MLH3 MSH2

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7:



Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Clinical features from OMIM:

614385

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

32
# Description HPO Frequency HPO Source Accession
1 hereditary nonpolyposis colorectal carcinoma 32 HP:0006716

GenomeRNAi Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00301-A 9.26 MLH3 MSH2
2 Decreased viability GR00402-S-2 9.26 MLH3 MSH2
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 MLH1 MLH3 MSH2

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

# Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 7 29 MLH3

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

41
Skin, Colon, Breast, Ovary, Small Intestine, Uterus, Bone

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

75
# Symbol AA change Variation ID SNP ID
1 MLH3 p.Gln24Glu VAR_012946 rs28937870
2 MLH3 p.Asn499Ser VAR_012947 rs28937871
3 MLH3 p.Glu624Gln VAR_012948 rs28756986
4 MLH3 p.Arg647Cys VAR_012949 rs28756987
5 MLH3 p.Ser817Gly VAR_012950 rs143278116
6 MLH3 p.Gly981Ser VAR_012951 rs377337763
7 MLH3 p.Asn1007Ser VAR_012952 rs776639203
8 MLH3 p.Ala1394Thr VAR_012953 rs138006166
9 MLH3 p.Glu1451Lys VAR_012954 rs28939071

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 MLH3 NM_001040108.1(MLH3): c.70C> G (p.Gln24Glu) single nucleotide variant Uncertain significance rs28937870 GRCh37 Chromosome 14, 75516289: 75516289
2 MLH3 NM_001040108.1(MLH3): c.70C> G (p.Gln24Glu) single nucleotide variant Uncertain significance rs28937870 GRCh38 Chromosome 14, 75049586: 75049586
3 MLH3 NM_001040108.1(MLH3): c.1496A> G (p.Asn499Ser) single nucleotide variant Uncertain significance rs28937871 GRCh37 Chromosome 14, 75514863: 75514863
4 MLH3 NM_001040108.1(MLH3): c.1496A> G (p.Asn499Ser) single nucleotide variant Uncertain significance rs28937871 GRCh38 Chromosome 14, 75048160: 75048160
5 MLH3 NM_001040108.1(MLH3): c.1870G> C (p.Glu624Gln) single nucleotide variant Benign rs28756986 GRCh37 Chromosome 14, 75514489: 75514489
6 MLH3 NM_001040108.1(MLH3): c.1870G> C (p.Glu624Gln) single nucleotide variant Benign rs28756986 GRCh38 Chromosome 14, 75047786: 75047786
7 MLH3 NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28756990 GRCh37 Chromosome 14, 75514138: 75514138
8 MLH3 NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28756990 GRCh38 Chromosome 14, 75047435: 75047435
9 MLH3 NM_001040108.1(MLH3): c.4351G> A (p.Glu1451Lys) single nucleotide variant Benign rs28939071 GRCh37 Chromosome 14, 75483796: 75483796
10 MLH3 NM_001040108.1(MLH3): c.4351G> A (p.Glu1451Lys) single nucleotide variant Benign rs28939071 GRCh38 Chromosome 14, 75017093: 75017093
11 MLH3 NM_001040108.1: c.885delG deletion Pathogenic
12 MLH3 NM_001040108.1(MLH3): c.3826T> C (p.Trp1276Arg) single nucleotide variant Pathogenic rs121908439 GRCh37 Chromosome 14, 75498772: 75498772
13 MLH3 NM_001040108.1(MLH3): c.3826T> C (p.Trp1276Arg) single nucleotide variant Pathogenic rs121908439 GRCh38 Chromosome 14, 75032069: 75032069
14 MLH3 NM_001040108.1(MLH3): c.2116delA (p.Thr706Glnfs) deletion Likely pathogenic rs797045117 GRCh38 Chromosome 14, 75047540: 75047540
15 MLH3 NM_001040108.1(MLH3): c.2116delA (p.Thr706Glnfs) deletion Likely pathogenic rs797045117 GRCh37 Chromosome 14, 75514243: 75514243

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 7.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Cellular components related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 condensed nuclear chromosome GO:0000794 9.37 MLH1 MLH3
2 synaptonemal complex GO:0000795 9.32 MLH1 MLH3
3 male germ cell nucleus GO:0001673 9.26 MLH1 MLH3
4 MutLalpha complex GO:0032389 9.16 MLH1 MLH3
5 chiasma GO:0005712 8.96 MLH1 MLH3
6 mismatch repair complex GO:0032300 8.8 MLH1 MLH3 MSH2

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.67 MLH1 MLH3 MSH2
2 DNA repair GO:0006281 9.61 MLH1 MLH3 MSH2
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.51 MLH1 MSH2
4 reciprocal meiotic recombination GO:0007131 9.48 MLH1 MLH3
5 male meiotic nuclear division GO:0007140 9.46 MLH1 MLH3
6 somatic hypermutation of immunoglobulin genes GO:0016446 9.4 MLH1 MSH2
7 isotype switching GO:0045190 9.37 MLH1 MSH2
8 positive regulation of isotype switching to IgG isotypes GO:0048304 9.32 MLH1 MSH2
9 positive regulation of isotype switching to IgA isotypes GO:0048298 9.26 MLH1 MSH2
10 somatic recombination of immunoglobulin gene segments GO:0016447 9.16 MLH1 MSH2
11 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 8.96 MLH1 MSH2
12 mismatch repair GO:0006298 8.8 MLH1 MLH3 MSH2

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.58 MLH1 MLH3 MSH2
2 chromatin binding GO:0003682 9.54 MLH1 MLH3 MSH2
3 ATPase activity GO:0016887 9.5 MLH1 MLH3 MSH2
4 centromeric DNA binding GO:0019237 9.26 MLH3 MSH2
5 guanine/thymine mispair binding GO:0032137 9.16 MLH1 MSH2
6 single-stranded DNA binding GO:0003697 9.13 MLH1 MLH3 MSH2
7 mismatched DNA binding GO:0030983 8.8 MLH1 MLH3 MSH2

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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