MCID: NTH004
MIFTS: 10

Nthl1 Tumor Syndrome

Aliases & Classifications for Nthl1 Tumor Syndrome

MalaCards integrated aliases for Nthl1 Tumor Syndrome:

Name: Nthl1 Tumor Syndrome 24
Nthl1-Associated Polyposis 24

Summaries for Nthl1 Tumor Syndrome

MalaCards based summary : Nthl1 Tumor Syndrome, also known as nthl1-associated polyposis, is related to adenoma and bladder cancer. An important gene associated with Nthl1 Tumor Syndrome is NTHL1 (Nth Like DNA Glycosylase 1). Affiliated tissues include colon and breast.

GeneReviews: NBK555473

Related Diseases for Nthl1 Tumor Syndrome

Diseases related to Nthl1 Tumor Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 adenoma 10.4
2 bladder cancer 10.3
3 familial adenomatous polyposis 10.3
4 colorectal adenoma 10.3
5 mutyh polyposis 10.3
6 endometrial cancer 10.1
7 familial adenomatous polyposis 3 10.1
8 attenuated familial adenomatous polyposis 10.1

Graphical network of the top 20 diseases related to Nthl1 Tumor Syndrome:



Diseases related to Nthl1 Tumor Syndrome

Symptoms & Phenotypes for Nthl1 Tumor Syndrome

Drugs & Therapeutics for Nthl1 Tumor Syndrome

Search Clinical Trials , NIH Clinical Center for Nthl1 Tumor Syndrome

Genetic Tests for Nthl1 Tumor Syndrome

Anatomical Context for Nthl1 Tumor Syndrome

MalaCards organs/tissues related to Nthl1 Tumor Syndrome:

40
Colon, Breast

Publications for Nthl1 Tumor Syndrome

Articles related to Nthl1 Tumor Syndrome:

(show all 27)
# Title Authors PMID Year
1
Update on genetic predisposition to colorectal cancer and polyposis. 24 61
30862463 2019
2
NTHL1-associate polyposis: first Australian case report. 61 24
30859360 2019
3
A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis. 61 24
31645984 2019
4
Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis. 24 61
27720914 2017
5
NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. 24
31227763 2019
6
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype. 24
30753826 2019
7
Extending the clinical phenotype associated with biallelic NTHL1 germline mutations. 24
30248171 2018
8
NTHL1 and MUTYH polyposis syndromes: two sides of the same coin? 24
29105096 2018
9
Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer. 24
28912133 2017
10
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
11
Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. 24
27713038 2017
12
Landscape of somatic mutations in 560 breast cancer whole-genome sequences. 24
27135926 2016
13
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 24
27329137 2016
14
Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. 24
26559593 2015
15
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. 24
25938944 2015
16
Error-free versus mutagenic processing of genomic uracil--relevance to cancer. 24
24746924 2014
17
Base excision repair and cancer. 24
22252118 2012
18
Base excision repair and lesion-dependent subpathways for repair of oxidative DNA damage. 24
20649466 2011
19
DNA repair in mammalian cells: Base excision repair: the long and short of it. 24
19153658 2009
20
MUTYH-associated polyposis. 24
19414147 2009
21
The genetics of FAP and FAP-like syndromes. 24
16998667 2006
22
Upper gastrointestinal cancer in patients with familial adenomatous polyposis. 24
2571019 1989
23
NTHL1 Tumor Syndrome 61
32239880 2020
24
Defective repair capacity of variant proteins of the DNA glycosylase NTHL1 for 5-hydroxyuracil, an oxidation product of cytosine. 61
30552997 2019
25
The role of inherited genetic variants in colorectal polyposis syndromes. 61
30904095 2019
26
An Update on Inherited Colon Cancer and Gastrointestinal Polyposis. 61
31409085 2019
27
The genetic basis of colonic adenomatous polyposis syndromes. 61
28331556 2017

Variations for Nthl1 Tumor Syndrome

Expression for Nthl1 Tumor Syndrome

Search GEO for disease gene expression data for Nthl1 Tumor Syndrome.

Pathways for Nthl1 Tumor Syndrome

GO Terms for Nthl1 Tumor Syndrome

Sources for Nthl1 Tumor Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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