FCCTX
MCID: FML311
MIFTS: 37

Familial Colorectal Cancer Type X (FCCTX)

Categories: Blood diseases, Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Colorectal Cancer Type X

MalaCards integrated aliases for Familial Colorectal Cancer Type X:

Name: Familial Colorectal Cancer Type X 58 71
Fcctx 58

Characteristics:

Orphanet epidemiological data:

58
familial colorectal cancer type x
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Familial Colorectal Cancer Type X

MalaCards based summary : Familial Colorectal Cancer Type X, also known as fcctx, is related to lynch syndrome and familial colorectal cancer. An important gene associated with Familial Colorectal Cancer Type X is SEMA4A (Semaphorin 4A), and among its related pathways/superpathways are TGF-beta signaling pathway (KEGG) and SMAD2/3 MH2 Domain Mutants in Cancer. Affiliated tissues include colon, pancreas and thyroid, and related phenotypes are malabsorption and fatigue

Related Diseases for Familial Colorectal Cancer Type X

Graphical network of the top 20 diseases related to Familial Colorectal Cancer Type X:



Diseases related to Familial Colorectal Cancer Type X

Symptoms & Phenotypes for Familial Colorectal Cancer Type X

Human phenotypes related to Familial Colorectal Cancer Type X:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
4 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
5 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
6 glioblastoma multiforme 31 hallmark (90%) HP:0012174
7 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
8 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
9 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
10 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
11 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
12 gastrointestinal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002239
13 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
14 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
15 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
16 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
17 neoplasm of the rectum 58 31 frequent (33%) Frequent (79-30%) HP:0100743
18 seizure 31 frequent (33%) HP:0001250
19 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
20 dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100660
21 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
22 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
23 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
24 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
25 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
26 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
27 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
28 benign neoplasm of the central nervous system 58 31 occasional (7.5%) Occasional (29-5%) HP:0100835
29 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
30 dysgraphia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010526
31 urinary tract neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010786
32 pancreatic adenocarcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006725
33 neoplasm of the colon 58 31 occasional (7.5%) Occasional (29-5%) HP:0100273
34 neoplasm of the thyroid gland 58 31 occasional (7.5%) Occasional (29-5%) HP:0100031
35 neuroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003006
36 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
37 visual field defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001123
38 amaurosis fugax 58 31 occasional (7.5%) Occasional (29-5%) HP:0100576
39 agnosia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010524
40 neoplasm of the skeletal system 58 31 occasional (7.5%) Occasional (29-5%) HP:0010622
41 hepatocellular carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001402
42 pituitary adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002893
43 cardiac diverticulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0100571
44 abnormal circulating creatine concentration 31 occasional (7.5%) HP:0012113
45 stomach cancer 58 31 very rare (1%) Very rare (<4-1%) HP:0012126
46 uterine neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0010784
47 behavioral abnormality 58 Frequent (79-30%)
48 seizures 58 Frequent (79-30%)
49 neurological speech impairment 58 Occasional (29-5%)
50 visual impairment 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Familial Colorectal Cancer Type X:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 BMPR1A BRCA2 RPS20 SMAD4
2 pigmentation MP:0001186 8.8 BMPR1A RPS20 SEMA4A

Drugs & Therapeutics for Familial Colorectal Cancer Type X

Search Clinical Trials , NIH Clinical Center for Familial Colorectal Cancer Type X

Genetic Tests for Familial Colorectal Cancer Type X

Anatomical Context for Familial Colorectal Cancer Type X

MalaCards organs/tissues related to Familial Colorectal Cancer Type X:

40
Colon, Pancreas, Thyroid, Breast, Appendix, Pituitary, Testes

Publications for Familial Colorectal Cancer Type X

Articles related to Familial Colorectal Cancer Type X:

(show all 47)
# Title Authors PMID Year
1
Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study. 61
32448342 2020
2
Broadening risk profile in familial colorectal cancer type X; increased risk for five cancer types in the national Danish cohort. 61
32321466 2020
3
Risks of Colorectal Cancer and Cancer-Related Mortality in Familial Colorectal Cancer Type X and Lynch Syndrome Families. 61
30380125 2019
4
Impact of colonoscopic screening in Familial Colorectal Cancer Type X. 61
30300963 2018
5
Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from Newfoundland. 61
28660566 2018
6
Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries. 61
29849630 2018
7
Hereditary non-polyposis colorectal cancer/Lynch syndrome in three dimensions. 61
26990828 2017
8
SETD6 dominant negative mutation in familial colorectal cancer type X. 61
28973356 2017
9
Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review. 61
29096939 2017
10
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 61
28944238 2017
11
Familial Colorectal Cancer Type X. 61
29081690 2017
12
Familial Colorectal Cancer Type X in Central Iran: A New Clinicopathologic Description. 61
28989591 2017
13
Germline INDELs and CNVs in a cohort of colorectal cancer patients: their characteristics, associations with relapse-free survival time, and potential time-varying effects on the risk of relapse. 61
28544645 2017
14
Outcome of 24 years national surveillance in different hereditary colorectal cancer subgroups leading to more individualised surveillance. 61
28039328 2017
15
Differential expression of CK20, β-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X. 61
28824332 2017
16
DNA Methylation Identifies Loci Distinguishing Hereditary Nonpolyposis Colorectal Cancer Without Germ-Line MLH1/MSH2 Mutation from Sporadic Colorectal Cancer. 61
27977020 2016
17
Clinicopathological differences between familial colorectal cancer type X and sporadic cancer in an isolated area of spain. 61
27671100 2016
18
The "Studded" Rectum: Phenotypic Evidence of MYH-Associated Polyposis. 61
27145315 2016
19
Evolving approach and clinical significance of detecting DNA mismatch repair deficiency in colorectal carcinoma. 61
25716099 2015
20
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer. 61
26309352 2015
21
BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X. 61
24814045 2015
22
Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X. 61
25381643 2015
23
Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum. 61
25404568 2015
24
Familial colorectal cancer type X: genetic profiles and phenotypic features. 61
24743215 2015
25
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. 61
25307848 2014
26
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. 61
24941021 2014
27
Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer. 61
24918813 2014
28
GALNT12 is not a major contributor of familial colorectal cancer type X. 61
24115450 2014
29
A population-based study of hereditary non-polyposis colorectal cancer: evidence of pathologic and genetic heterogeneity. 61
23278430 2013
30
Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer. 61
23245329 2013
31
Distinct gene expression signatures in lynch syndrome and familial colorectal cancer type x. 61
23951239 2013
32
Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X. 61
22522846 2012
33
LINE-1 hypomethylation in familial and sporadic cancer. 61
22228215 2012
34
Hereditary colorectal cancer diagnostics: morphological features of familial colorectal cancer type X versus Lynch syndrome. 61
22287689 2012
35
Loss of expression of the tumor suppressor CEACAM1 links different hereditary colorectal carcinoma subtypes to the genesis of sporadic colorectal carcinoma. 61
23038226 2012
36
Distinct genetic and epigenetic signatures of colorectal cancers according to ethnic origin. 61
22028395 2012
37
Familial colorectal cancer type X syndrome: two distinct molecular entities? 61
21837511 2011
38
[Surgical management of familial colorectal cancer type X]. 61
21354556 2011
39
Familial colorectal cancer type X: polyp burden and cancer risk stratification via a family history score. 61
22295380 2011
40
The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease. 61
20682701 2010
41
Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndrome. 61
19793571 2009
42
Surgical management of hereditary colorectal cancer: surgery based on molecular analysis and family history. 61
19785492 2009
43
[Familial colorectal cancer type X: clinical, pathological and molecular characterization]. 61
19686620 2009
44
Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disorders. 61
19258188 2009
45
Lynch syndrome and related familial colorectal cancers. 61
19105568 2008
46
Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term. 61
16937488 2006
47
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. 61
15855431 2005

Variations for Familial Colorectal Cancer Type X

Expression for Familial Colorectal Cancer Type X

Search GEO for disease gene expression data for Familial Colorectal Cancer Type X.

Pathways for Familial Colorectal Cancer Type X

GO Terms for Familial Colorectal Cancer Type X

Biological processes related to Familial Colorectal Cancer Type X according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 9.51 SMAD4 BMPR1A
2 BMP signaling pathway GO:0030509 9.49 SMAD4 BMPR1A
3 stem cell population maintenance GO:0019827 9.48 SETD6 BMPR1A
4 embryonic digit morphogenesis GO:0042733 9.46 SMAD4 BMPR1A
5 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.43 SMAD4 BMPR1A
6 cellular response to BMP stimulus GO:0071773 9.4 SMAD4 BMPR1A
7 endoderm development GO:0007492 9.37 SMAD4 BMPR1A
8 developmental growth GO:0048589 9.32 SMAD4 BMPR1A
9 outflow tract septum morphogenesis GO:0003148 9.26 SMAD4 BMPR1A
10 female gonad development GO:0008585 9.16 SMAD4 BRCA2
11 positive regulation of SMAD protein signal transduction GO:0060391 8.96 SMAD4 BMPR1A
12 mesendoderm development GO:0048382 8.62 SMAD4 BMPR1A

Sources for Familial Colorectal Cancer Type X

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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