MCID: CLR100
MIFTS: 18

Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Categories: Genetic diseases, Cancer diseases, Gastrointestinal 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 29 6
Hnpcc7 57 75
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 7 40
Hereditary Non-Polyposis Colorectal Cancer 7 75

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 57 614385
MedGen 42 C1858380
MeSH 44 D003123
SNOMED-CT via HPO 69 263681008
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, is also known as hereditary nonpolyposis colorectal cancer type 7. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 7 is MLH3 (MutL Homolog 3). Affiliated tissues include skin, colon and breast, and related phenotype is hereditary nonpolyposis colorectal carcinoma.

Description from OMIM: 614385

Related Diseases for 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

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

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
# Gene Variation Type Significance SNP ID Assembly Location
1 MLH3 MLH3, 1-BP DEL, 885G deletion Pathogenic
2 MLH3 NM_001040108.1(MLH3): c.3826T> C (p.Trp1276Arg) single nucleotide variant Pathogenic rs121908439 GRCh37 Chromosome 14, 75498772: 75498772
3 MLH3 NM_001040108.1(MLH3): c.3826T> C (p.Trp1276Arg) single nucleotide variant Pathogenic rs121908439 GRCh38 Chromosome 14, 75032069: 75032069
4 MLH3 NM_001040108.1(MLH3): c.2116delA (p.Thr706Glnfs) deletion Likely pathogenic rs797045117 GRCh38 Chromosome 14, 75047540: 75047540
5 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

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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