ODCRCS
MCID: OLG005
MIFTS: 18

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 and breast, 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, Breast

Publications for Oligodontia-Colorectal Cancer Syndrome

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_004655.4(AXIN2): c.2433G> A (p.Glu811=) single nucleotide variant Benign/Likely benign rs147134295 GRCh38 Chromosome 17, 65530075: 65530075
2 AXIN2 NM_004655.4(AXIN2): c.2433G> A (p.Glu811=) single nucleotide variant Benign/Likely benign rs147134295 GRCh37 Chromosome 17, 63526193: 63526193
3 AXIN2 NM_004655.3(AXIN2): c.2239C> T (p.His747Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs143571197 GRCh38 Chromosome 17, 65534078: 65534078
4 AXIN2 NM_004655.3(AXIN2): c.2239C> T (p.His747Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs143571197 GRCh37 Chromosome 17, 63530196: 63530196
5 AXIN2 NM_004655.4(AXIN2): c.2237+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs376584101 GRCh38 Chromosome 17, 65535623: 65535623
6 AXIN2 NM_004655.4(AXIN2): c.2237+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs376584101 GRCh37 Chromosome 17, 63531741: 63531741
7 AXIN2 NM_004655.3(AXIN2): c.2024G> A (p.Arg675His) single nucleotide variant Uncertain significance rs730881401 GRCh38 Chromosome 17, 65536437: 65536437
8 AXIN2 NM_004655.3(AXIN2): c.2024G> A (p.Arg675His) single nucleotide variant Uncertain significance rs730881401 GRCh37 Chromosome 17, 63532555: 63532555
9 AXIN2 NM_004655.3(AXIN2): c.2013_2024delCACCACCCCCCG (p.Thr672_Arg675del) deletion Benign rs151279728 GRCh38 Chromosome 17, 65536437: 65536448
10 AXIN2 NM_004655.3(AXIN2): c.2013_2024delCACCACCCCCCG (p.Thr672_Arg675del) deletion Benign rs151279728 GRCh37 Chromosome 17, 63532555: 63532566
11 AXIN2 NM_004655.4(AXIN2): c.1976G> A (p.Arg659Gln) single nucleotide variant Uncertain significance rs730881400 GRCh38 Chromosome 17, 65536485: 65536485
12 AXIN2 NM_004655.4(AXIN2): c.1976G> A (p.Arg659Gln) single nucleotide variant Uncertain significance rs730881400 GRCh37 Chromosome 17, 63532603: 63532603
13 AXIN2 NM_004655.3(AXIN2): c.1948C> T (p.Arg650Cys) single nucleotide variant Uncertain significance rs148419444 GRCh38 Chromosome 17, 65536513: 65536513
14 AXIN2 NM_004655.3(AXIN2): c.1948C> T (p.Arg650Cys) single nucleotide variant Uncertain significance rs148419444 GRCh37 Chromosome 17, 63532631: 63532631
15 AXIN2 NM_004655.3(AXIN2): c.1934C> T (p.Pro645Leu) single nucleotide variant Uncertain significance rs730881405 GRCh38 Chromosome 17, 65536527: 65536527
16 AXIN2 NM_004655.3(AXIN2): c.1934C> T (p.Pro645Leu) single nucleotide variant Uncertain significance rs730881405 GRCh37 Chromosome 17, 63532645: 63532645
17 AXIN2 NM_004655.3(AXIN2): c.1882C> T (p.Arg628Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200201811 GRCh38 Chromosome 17, 65536894: 65536894
18 AXIN2 NM_004655.3(AXIN2): c.1882C> T (p.Arg628Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200201811 GRCh37 Chromosome 17, 63533012: 63533012
19 AXIN2 NM_004655.3(AXIN2): c.1651T> C (p.Cys551Arg) single nucleotide variant Uncertain significance rs730881398 GRCh38 Chromosome 17, 65537385: 65537385
20 AXIN2 NM_004655.3(AXIN2): c.1651T> C (p.Cys551Arg) single nucleotide variant Uncertain significance rs730881398 GRCh37 Chromosome 17, 63533503: 63533503
21 AXIN2 NM_004655.3(AXIN2): c.1481C> T (p.Pro494Leu) single nucleotide variant Uncertain significance rs730881396 GRCh38 Chromosome 17, 65537555: 65537555
22 AXIN2 NM_004655.3(AXIN2): c.1481C> T (p.Pro494Leu) single nucleotide variant Uncertain significance rs730881396 GRCh37 Chromosome 17, 63533673: 63533673
23 AXIN2 NM_004655.3(AXIN2): c.1387C> G (p.Arg463Gly) single nucleotide variant Uncertain significance rs730881395 GRCh38 Chromosome 17, 65537649: 65537649
24 AXIN2 NM_004655.3(AXIN2): c.1387C> G (p.Arg463Gly) single nucleotide variant Uncertain significance rs730881395 GRCh37 Chromosome 17, 63533767: 63533767
25 AXIN2 NM_004655.3(AXIN2): c.1376G> A (p.Arg459His) single nucleotide variant Uncertain significance rs368525111 GRCh38 Chromosome 17, 65537660: 65537660
26 AXIN2 NM_004655.3(AXIN2): c.1376G> A (p.Arg459His) single nucleotide variant Uncertain significance rs368525111 GRCh37 Chromosome 17, 63533778: 63533778
27 AXIN2 NM_004655.3(AXIN2): c.1070G> A (p.Arg357His) single nucleotide variant Conflicting interpretations of pathogenicity rs8081536 GRCh38 Chromosome 17, 65538333: 65538333
28 AXIN2 NM_004655.3(AXIN2): c.1070G> A (p.Arg357His) single nucleotide variant Conflicting interpretations of pathogenicity rs8081536 GRCh37 Chromosome 17, 63534451: 63534451
29 AXIN2 NM_004655.3(AXIN2): c.828G> A (p.Arg276=) single nucleotide variant Benign/Likely benign rs730881404 GRCh38 Chromosome 17, 65549648: 65549648
30 AXIN2 NM_004655.3(AXIN2): c.828G> A (p.Arg276=) single nucleotide variant Benign/Likely benign rs730881404 GRCh37 Chromosome 17, 63545766: 63545766
31 AXIN2 NM_004655.3(AXIN2): c.227C> G (p.Thr76Ser) single nucleotide variant Uncertain significance rs730881402 GRCh38 Chromosome 17, 65558394: 65558394
32 AXIN2 NM_004655.3(AXIN2): c.227C> G (p.Thr76Ser) single nucleotide variant Uncertain significance rs730881402 GRCh37 Chromosome 17, 63554512: 63554512
33 AXIN2 NM_004655.3(AXIN2): c.144C> T (p.Pro48=) single nucleotide variant Conflicting interpretations of pathogenicity rs144099816 GRCh38 Chromosome 17, 65558477: 65558477
34 AXIN2 NM_004655.3(AXIN2): c.144C> T (p.Pro48=) single nucleotide variant Conflicting interpretations of pathogenicity rs144099816 GRCh37 Chromosome 17, 63554595: 63554595
35 AXIN2 NM_004655.3(AXIN2): c.14T> G (p.Met5Arg) single nucleotide variant Uncertain significance rs730881397 GRCh38 Chromosome 17, 65558607: 65558607
36 AXIN2 NM_004655.3(AXIN2): c.14T> G (p.Met5Arg) single nucleotide variant Uncertain significance rs730881397 GRCh37 Chromosome 17, 63554725: 63554725
37 AXIN2 NM_004655.3(AXIN2): c.-116-13delC deletion Benign/Likely benign rs530658215 GRCh38 Chromosome 17, 65558749: 65558749
38 AXIN2 NM_004655.3(AXIN2): c.-116-13delC deletion Benign/Likely benign rs530658215 GRCh37 Chromosome 17, 63554867: 63554867
39 AXIN2 NM_004655.3(AXIN2): c.2124G> C (p.Ser708=) single nucleotide variant Benign/Likely benign rs143243661 GRCh38 Chromosome 17, 65536337: 65536337
40 AXIN2 NM_004655.3(AXIN2): c.2124G> C (p.Ser708=) single nucleotide variant Benign/Likely benign rs143243661 GRCh37 Chromosome 17, 63532455: 63532455
41 AXIN2 NM_004655.3(AXIN2): c.1713C> T (p.Gly571=) single nucleotide variant Conflicting interpretations of pathogenicity rs761978806 GRCh37 Chromosome 17, 63533181: 63533181
42 AXIN2 NM_004655.3(AXIN2): c.1713C> T (p.Gly571=) single nucleotide variant Conflicting interpretations of pathogenicity rs761978806 GRCh38 Chromosome 17, 65537063: 65537063
43 AXIN2 NM_004655.3(AXIN2): c.1547A> G (p.His516Arg) single nucleotide variant Uncertain significance rs864622657 GRCh37 Chromosome 17, 63533607: 63533607
44 AXIN2 NM_004655.3(AXIN2): c.1547A> G (p.His516Arg) single nucleotide variant Uncertain significance rs864622657 GRCh38 Chromosome 17, 65537489: 65537489
45 AXIN2 NM_004655.3(AXIN2): c.1994delG (p.Gly665Alafs) deletion Pathogenic rs267606674 GRCh37 Chromosome 17, 63532585: 63532585
46 AXIN2 NM_004655.3(AXIN2): c.1994delG (p.Gly665Alafs) deletion Pathogenic rs267606674 GRCh38 Chromosome 17, 65536467: 65536467
47 AXIN2 NM_004655.3(AXIN2): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs121908568 GRCh37 Chromosome 17, 63532613: 63532613
48 AXIN2 NM_004655.3(AXIN2): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs121908568 GRCh38 Chromosome 17, 65536495: 65536495
49 AXIN2 NM_004655.4(AXIN2): c.1989G> A (p.Trp663Ter) single nucleotide variant Pathogenic rs730882193 GRCh37 Chromosome 17, 63532590: 63532590
50 AXIN2 NM_004655.4(AXIN2): c.1989G> A (p.Trp663Ter) single nucleotide variant Pathogenic rs730882193 GRCh38 Chromosome 17, 65536472: 65536472

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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