ODCRCS
MCID: OLG005
MIFTS: 22

Oligodontia-Colorectal Cancer Syndrome (ODCRCS)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Oligodontia-Colorectal Cancer Syndrome

MalaCards integrated aliases for Oligodontia-Colorectal Cancer Syndrome:

Name: Oligodontia-Colorectal Cancer Syndrome 58 76 38 30 13 6 74
Odcrcs 58 76
Autosomal Dominant Ectodermal Dysplasia-Cancer Predisposition Syndrome 60
Oligodontia-Cancer Predisposition Syndrome 60
Tooth Agenesis-Colorectal Cancer Syndrome 58
Cancer, Oligodontia-Colorectal, Syndrome 41

Characteristics:

Orphanet epidemiological data:

60
oligodontia-cancer predisposition syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
oligodontia-colorectal cancer syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608615
KEGG 38 H00857
UMLS via Orphanet 75 C1837750
Orphanet 60 ORPHA300576
MedGen 43 C1837750
SNOMED-CT via HPO 70 263681008
UMLS 74 C1837750

Summaries for Oligodontia-Colorectal Cancer Syndrome

UniProtKB/Swiss-Prot : 76 Oligodontia-colorectal cancer syndrome: Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types.

MalaCards based summary : Oligodontia-Colorectal Cancer Syndrome, is also known as odcrcs. An important gene associated with Oligodontia-Colorectal Cancer Syndrome is AXIN2 (Axin 2), and among its related pathways/superpathways are Wnt signaling pathway and Pathways in cancer. Affiliated tissues include colon, testes and prostate, and related phenotypes are sparse scalp hair and adenomatous colonic polyposis

Description from OMIM: 608615

Related Diseases for Oligodontia-Colorectal Cancer Syndrome

Symptoms & Phenotypes for Oligodontia-Colorectal Cancer Syndrome

Human phenotypes related to Oligodontia-Colorectal Cancer Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 33 occasional (7.5%) HP:0002209
2 adenomatous colonic polyposis 33 very rare (1%) HP:0005227
3 oligodontia 33 HP:0000677

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
oligodontia
permanent tooth agenesis, severe

Skin Nails Hair Hair:
sparse scalp hair (in some patients)
sparse eyebrows, especially laterally (in some patients)
scant body hair (in some patients)

Chest Breasts:
breast cancer, early-onset (in some patients)

Abdomen Gastrointestinal:
colorectal cancer
polyps, fundic gland
adenomatous polyps, colon

Head And Neck Eyes:
sparse eyebrows, especially laterally (in some patients)

Neoplasia:
breast cancer, early-onset (in some patients)
colorectal cancer, early onset

Clinical features from OMIM:

608615

Drugs & Therapeutics for Oligodontia-Colorectal Cancer Syndrome

Search Clinical Trials , NIH Clinical Center for Oligodontia-Colorectal Cancer Syndrome

Genetic Tests for Oligodontia-Colorectal Cancer Syndrome

Genetic tests related to Oligodontia-Colorectal Cancer Syndrome:

# Genetic test Affiliating Genes
1 Oligodontia-Colorectal Cancer Syndrome 30 AXIN2

Anatomical Context for Oligodontia-Colorectal Cancer Syndrome

MalaCards organs/tissues related to Oligodontia-Colorectal Cancer Syndrome:

42
Colon, Testes, Prostate

Publications for Oligodontia-Colorectal Cancer Syndrome

Articles related to Oligodontia-Colorectal Cancer Syndrome:

(show all 12)
# Title Authors Year
1
Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology. ( 25373533 )
2015
2
Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update. ( 23852704 )
2014
3
RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group. ( 24996433 )
2014
4
Multitarget stool DNA testing for colorectal-cancer screening. ( 25006736 )
2014
5
Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? ( 23429431 )
2013
6
Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM). ( 22855150 )
2012
7
ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making. ( 23012255 )
2012
8
AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. ( 21416598 )
2011
9
NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. ( 22138009 )
2011
10
National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers. ( 19042984 )
2008
11
ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. ( 17060676 )
2006
12
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. ( 15042511 )
2004

Variations for Oligodontia-Colorectal Cancer Syndrome

ClinVar genetic disease variations for Oligodontia-Colorectal Cancer Syndrome:

6 (show top 50) (show all 1532)
# Gene Variation Type Significance SNP ID Assembly Location
1 AXIN2 NM_004655.3(AXIN2): c.1994delG (p.Gly665Alafs) deletion Pathogenic rs267606674 GRCh37 Chromosome 17, 63532585: 63532585
2 AXIN2 NM_004655.3(AXIN2): c.1994delG (p.Gly665Alafs) deletion Pathogenic rs267606674 GRCh38 Chromosome 17, 65536467: 65536467
3 AXIN2 NM_004655.3(AXIN2): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs121908568 GRCh37 Chromosome 17, 63532613: 63532613
4 AXIN2 NM_004655.3(AXIN2): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs121908568 GRCh38 Chromosome 17, 65536495: 65536495
5 AXIN2 NM_004655.4(AXIN2): c.1989G> A (p.Trp663Ter) single nucleotide variant Pathogenic rs730882193 GRCh37 Chromosome 17, 63532590: 63532590
6 AXIN2 NM_004655.4(AXIN2): c.1989G> A (p.Trp663Ter) single nucleotide variant Pathogenic rs730882193 GRCh38 Chromosome 17, 65536472: 65536472
7 AXIN2 NM_004655.3(AXIN2): c.1168A> G (p.Ser390Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139871607 GRCh37 Chromosome 17, 63534353: 63534353
8 AXIN2 NM_004655.3(AXIN2): c.1168A> G (p.Ser390Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139871607 GRCh38 Chromosome 17, 65538235: 65538235
9 AXIN2 NM_004655.3(AXIN2): c.1235A> C (p.Asn412Thr) single nucleotide variant Uncertain significance rs115931022 GRCh37 Chromosome 17, 63533919: 63533919
10 AXIN2 NM_004655.3(AXIN2): c.1235A> C (p.Asn412Thr) single nucleotide variant Uncertain significance rs115931022 GRCh38 Chromosome 17, 65537801: 65537801
11 AXIN2 NM_004655.3(AXIN2): c.1557C> G (p.Ile519Met) single nucleotide variant Uncertain significance rs374444786 GRCh37 Chromosome 17, 63533597: 63533597
12 AXIN2 NM_004655.3(AXIN2): c.1557C> G (p.Ile519Met) single nucleotide variant Uncertain significance rs374444786 GRCh38 Chromosome 17, 65537479: 65537479
13 AXIN2 NM_004655.3(AXIN2): c.1685C> T (p.Pro562Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149764887 GRCh37 Chromosome 17, 63533469: 63533469
14 AXIN2 NM_004655.3(AXIN2): c.1685C> T (p.Pro562Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149764887 GRCh38 Chromosome 17, 65537351: 65537351
15 AXIN2 NM_004655.3(AXIN2): c.1952C> T (p.Ser651Leu) single nucleotide variant Benign/Likely benign rs74006838 GRCh37 Chromosome 17, 63532627: 63532627
16 AXIN2 NM_004655.3(AXIN2): c.1952C> T (p.Ser651Leu) single nucleotide variant Benign/Likely benign rs74006838 GRCh38 Chromosome 17, 65536509: 65536509
17 AXIN2 NM_004655.3(AXIN2): c.1985T> C (p.Leu662Pro) single nucleotide variant Likely benign rs142476324 GRCh37 Chromosome 17, 63532594: 63532594
18 AXIN2 NM_004655.3(AXIN2): c.1985T> C (p.Leu662Pro) single nucleotide variant Likely benign rs142476324 GRCh38 Chromosome 17, 65536476: 65536476
19 AXIN2 NM_004655.4(AXIN2): c.203G> A (p.Arg68Gln) single nucleotide variant Uncertain significance rs138056036 GRCh37 Chromosome 17, 63554536: 63554536
20 AXIN2 NM_004655.4(AXIN2): c.203G> A (p.Arg68Gln) single nucleotide variant Uncertain significance rs138056036 GRCh38 Chromosome 17, 65558418: 65558418
21 AXIN2 NM_004655.4(AXIN2): c.2051C> T (p.Ala684Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138287857 GRCh37 Chromosome 17, 63532528: 63532528
22 AXIN2 NM_004655.4(AXIN2): c.2051C> T (p.Ala684Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138287857 GRCh38 Chromosome 17, 65536410: 65536410
23 AXIN2 NM_004655.3(AXIN2): c.2123C> T (p.Ser708Leu) single nucleotide variant Uncertain significance rs587780123 GRCh37 Chromosome 17, 63532456: 63532456
24 AXIN2 NM_004655.3(AXIN2): c.2123C> T (p.Ser708Leu) single nucleotide variant Uncertain significance rs587780123 GRCh38 Chromosome 17, 65536338: 65536338
25 AXIN2 NM_004655.3(AXIN2): c.2272G> A (p.Ala758Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs145007501 GRCh37 Chromosome 17, 63530163: 63530163
26 AXIN2 NM_004655.3(AXIN2): c.2272G> A (p.Ala758Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs145007501 GRCh38 Chromosome 17, 65534045: 65534045
27 AXIN2 NM_004655.3(AXIN2): c.2285G> A (p.Ser762Asn) single nucleotide variant Likely benign rs117688560 GRCh37 Chromosome 17, 63530150: 63530150
28 AXIN2 NM_004655.3(AXIN2): c.2285G> A (p.Ser762Asn) single nucleotide variant Likely benign rs117688560 GRCh38 Chromosome 17, 65534032: 65534032
29 AXIN2 NM_004655.3(AXIN2): c.2428G> A (p.Asp810Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140344858 GRCh37 Chromosome 17, 63526198: 63526198
30 AXIN2 NM_004655.3(AXIN2): c.2428G> A (p.Asp810Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140344858 GRCh38 Chromosome 17, 65530080: 65530080
31 AXIN2 NM_004655.4(AXIN2): c.2521C> T (p.Arg841Trp) single nucleotide variant Uncertain significance rs527766429 GRCh37 Chromosome 17, 63526105: 63526105
32 AXIN2 NM_004655.4(AXIN2): c.2521C> T (p.Arg841Trp) single nucleotide variant Uncertain significance rs527766429 GRCh38 Chromosome 17, 65529987: 65529987
33 AXIN2 NM_004655.3(AXIN2): c.623C> T (p.Ala208Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201531372 GRCh37 Chromosome 17, 63554116: 63554116
34 AXIN2 NM_004655.3(AXIN2): c.623C> T (p.Ala208Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201531372 GRCh38 Chromosome 17, 65557998: 65557998
35 AXIN2 NM_004655.3(AXIN2): c.733C> T (p.Pro245Ser) single nucleotide variant Likely benign rs62640028 GRCh37 Chromosome 17, 63554006: 63554006
36 AXIN2 NM_004655.3(AXIN2): c.733C> T (p.Pro245Ser) single nucleotide variant Likely benign rs62640028 GRCh38 Chromosome 17, 65557888: 65557888
37 AXIN2 NM_004655.3(AXIN2): c.1059+8C> T single nucleotide variant Benign/Likely benign rs367595502 GRCh37 Chromosome 17, 63537565: 63537565
38 AXIN2 NM_004655.3(AXIN2): c.1059+8C> T single nucleotide variant Benign/Likely benign rs367595502 GRCh38 Chromosome 17, 65541447: 65541447
39 AXIN2 NM_004655.3(AXIN2): c.1101C> T (p.Pro367=) single nucleotide variant Benign/Likely benign rs141697521 GRCh37 Chromosome 17, 63534420: 63534420
40 AXIN2 NM_004655.3(AXIN2): c.1101C> T (p.Pro367=) single nucleotide variant Benign/Likely benign rs141697521 GRCh38 Chromosome 17, 65538302: 65538302
41 AXIN2 NM_004655.3(AXIN2): c.1235A> G (p.Asn412Ser) single nucleotide variant Benign rs115931022 GRCh37 Chromosome 17, 63533919: 63533919
42 AXIN2 NM_004655.3(AXIN2): c.1235A> G (p.Asn412Ser) single nucleotide variant Benign rs115931022 GRCh38 Chromosome 17, 65537801: 65537801
43 AXIN2 NM_004655.3(AXIN2): c.1250C> T (p.Ala417Val) single nucleotide variant Benign/Likely benign rs201460658 GRCh37 Chromosome 17, 63533904: 63533904
44 AXIN2 NM_004655.3(AXIN2): c.1250C> T (p.Ala417Val) single nucleotide variant Benign/Likely benign rs201460658 GRCh38 Chromosome 17, 65537786: 65537786
45 AXIN2 NM_004655.3(AXIN2): c.1305G> A (p.Pro435=) single nucleotide variant Benign/Likely benign rs369221405 GRCh37 Chromosome 17, 63533849: 63533849
46 AXIN2 NM_004655.3(AXIN2): c.1305G> A (p.Pro435=) single nucleotide variant Benign/Likely benign rs369221405 GRCh38 Chromosome 17, 65537731: 65537731
47 AXIN2 NM_004655.3(AXIN2): c.1410C> T (p.His470=) single nucleotide variant Benign/Likely benign rs149483825 GRCh37 Chromosome 17, 63533744: 63533744
48 AXIN2 NM_004655.3(AXIN2): c.1410C> T (p.His470=) single nucleotide variant Benign/Likely benign rs149483825 GRCh38 Chromosome 17, 65537626: 65537626
49 AXIN2 NM_004655.3(AXIN2): c.1530G> A (p.Thr510=) single nucleotide variant Benign/Likely benign rs141014640 GRCh38 Chromosome 17, 65537506: 65537506
50 AXIN2 NM_004655.3(AXIN2): c.1530G> A (p.Thr510=) single nucleotide variant Benign/Likely benign rs141014640 GRCh37 Chromosome 17, 63533624: 63533624

Expression for Oligodontia-Colorectal Cancer Syndrome

Search GEO for disease gene expression data for Oligodontia-Colorectal Cancer Syndrome.

Pathways for Oligodontia-Colorectal Cancer Syndrome

Pathways related to Oligodontia-Colorectal Cancer Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310
2 Pathways in cancer hsa05200
3 Colorectal cancer hsa05210

GO Terms for Oligodontia-Colorectal Cancer Syndrome

Sources for Oligodontia-Colorectal Cancer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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