MCID: OLG005
MIFTS: 17

Oligodontia-Colorectal Cancer Syndrome

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

Aliases & Classifications for Oligodontia-Colorectal Cancer Syndrome

MalaCards integrated aliases for Oligodontia-Colorectal Cancer Syndrome:

Name: Oligodontia-Colorectal Cancer Syndrome 57 75 37 29 13 6 73
Odcrcs 57 75
Autosomal Dominant Ectodermal Dysplasia-Cancer Predisposition Syndrome 59
Oligodontia-Cancer Predisposition Syndrome 59
Tooth Agenesis-Colorectal Cancer Syndrome 57
Cancer, Oligodontia-Colorectal, Syndrome 40

Characteristics:

Orphanet epidemiological data:

59
oligodontia-cancer predisposition syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
oligodontia-colorectal cancer syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608615
Orphanet 59 ORPHA300576
UMLS via Orphanet 74 C1837750
MedGen 42 C1837750
KEGG 37 H00857
SNOMED-CT via HPO 69 263681008
UMLS 73 C1837750

Summaries for Oligodontia-Colorectal Cancer Syndrome

UniProtKB/Swiss-Prot : 75 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 related phenotypes are oligodontia and sparse scalp hair

Description from OMIM: 608615

Related Diseases for Oligodontia-Colorectal Cancer Syndrome

Symptoms & Phenotypes for Oligodontia-Colorectal Cancer Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
sparse eyebrows, especially laterally (in some patients)

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

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

Head And Neck Teeth:
oligodontia
permanent tooth agenesis, severe

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

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


Clinical features from OMIM:

608615

Human phenotypes related to Oligodontia-Colorectal Cancer Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 oligodontia 32 HP:0000677
2 sparse scalp hair 32 occasional (7.5%) HP:0002209
3 adenomatous colonic polyposis 32 very rare (1%) HP:0005227

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 29 AXIN2

Anatomical Context for Oligodontia-Colorectal Cancer Syndrome

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

41
Colon

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 1234)
# 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_004655.3(AXIN2): c.1989G> A (p.Trp663Ter) single nucleotide variant Pathogenic rs730882193 GRCh37 Chromosome 17, 63532590: 63532590
6 AXIN2 NM_004655.3(AXIN2): c.1989G> A (p.Trp663Ter) single nucleotide variant Pathogenic rs730882193 GRCh38 Chromosome 17, 65536472: 65536472
7 AXIN2 NM_004655.3(AXIN2): c.2433G> A (p.Glu811=) single nucleotide variant Benign/Likely benign rs147134295 GRCh38 Chromosome 17, 65530075: 65530075
8 AXIN2 NM_004655.3(AXIN2): c.2433G> A (p.Glu811=) single nucleotide variant Benign/Likely benign rs147134295 GRCh37 Chromosome 17, 63526193: 63526193
9 AXIN2 NM_004655.3(AXIN2): c.2239C> T (p.His747Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs143571197 GRCh38 Chromosome 17, 65534078: 65534078
10 AXIN2 NM_004655.3(AXIN2): c.2239C> T (p.His747Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs143571197 GRCh37 Chromosome 17, 63530196: 63530196
11 AXIN2 NM_004655.3(AXIN2): c.2237+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs376584101 GRCh38 Chromosome 17, 65535623: 65535623
12 AXIN2 NM_004655.3(AXIN2): c.2237+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs376584101 GRCh37 Chromosome 17, 63531741: 63531741
13 AXIN2 NM_004655.3(AXIN2): c.2013_2024delCACCACCCCCCG (p.Thr672_Arg675del) deletion Benign rs151279728 GRCh38 Chromosome 17, 65536437: 65536448
14 AXIN2 NM_004655.3(AXIN2): c.2013_2024delCACCACCCCCCG (p.Thr672_Arg675del) deletion Benign rs151279728 GRCh37 Chromosome 17, 63532555: 63532566
15 AXIN2 NM_004655.3(AXIN2): c.1976G> A (p.Arg659Gln) single nucleotide variant Uncertain significance rs730881400 GRCh38 Chromosome 17, 65536485: 65536485
16 AXIN2 NM_004655.3(AXIN2): c.1976G> A (p.Arg659Gln) single nucleotide variant Uncertain significance rs730881400 GRCh37 Chromosome 17, 63532603: 63532603
17 AXIN2 NM_004655.3(AXIN2): c.1948C> T (p.Arg650Cys) single nucleotide variant Uncertain significance rs148419444 GRCh38 Chromosome 17, 65536513: 65536513
18 AXIN2 NM_004655.3(AXIN2): c.1948C> T (p.Arg650Cys) single nucleotide variant Uncertain significance rs148419444 GRCh37 Chromosome 17, 63532631: 63532631
19 AXIN2 NM_004655.3(AXIN2): c.1934C> T (p.Pro645Leu) single nucleotide variant Uncertain significance rs730881405 GRCh38 Chromosome 17, 65536527: 65536527
20 AXIN2 NM_004655.3(AXIN2): c.1934C> T (p.Pro645Leu) single nucleotide variant Uncertain significance rs730881405 GRCh37 Chromosome 17, 63532645: 63532645
21 AXIN2 NM_004655.3(AXIN2): c.1882C> T (p.Arg628Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200201811 GRCh38 Chromosome 17, 65536894: 65536894
22 AXIN2 NM_004655.3(AXIN2): c.1882C> T (p.Arg628Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200201811 GRCh37 Chromosome 17, 63533012: 63533012
23 AXIN2 NM_004655.3(AXIN2): c.1651T> C (p.Cys551Arg) single nucleotide variant Uncertain significance rs730881398 GRCh38 Chromosome 17, 65537385: 65537385
24 AXIN2 NM_004655.3(AXIN2): c.1651T> C (p.Cys551Arg) single nucleotide variant Uncertain significance rs730881398 GRCh37 Chromosome 17, 63533503: 63533503
25 AXIN2 NM_004655.3(AXIN2): c.1481C> T (p.Pro494Leu) single nucleotide variant Uncertain significance rs730881396 GRCh38 Chromosome 17, 65537555: 65537555
26 AXIN2 NM_004655.3(AXIN2): c.1481C> T (p.Pro494Leu) single nucleotide variant Uncertain significance rs730881396 GRCh37 Chromosome 17, 63533673: 63533673
27 AXIN2 NM_004655.3(AXIN2): c.1387C> G (p.Arg463Gly) single nucleotide variant Uncertain significance rs730881395 GRCh38 Chromosome 17, 65537649: 65537649
28 AXIN2 NM_004655.3(AXIN2): c.1387C> G (p.Arg463Gly) single nucleotide variant Uncertain significance rs730881395 GRCh37 Chromosome 17, 63533767: 63533767
29 AXIN2 NM_004655.3(AXIN2): c.1376G> A (p.Arg459His) single nucleotide variant Uncertain significance rs368525111 GRCh38 Chromosome 17, 65537660: 65537660
30 AXIN2 NM_004655.3(AXIN2): c.1376G> A (p.Arg459His) single nucleotide variant Uncertain significance rs368525111 GRCh37 Chromosome 17, 63533778: 63533778
31 AXIN2 NM_004655.3(AXIN2): c.1070G> A (p.Arg357His) single nucleotide variant Conflicting interpretations of pathogenicity rs8081536 GRCh38 Chromosome 17, 65538333: 65538333
32 AXIN2 NM_004655.3(AXIN2): c.1070G> A (p.Arg357His) single nucleotide variant Conflicting interpretations of pathogenicity rs8081536 GRCh37 Chromosome 17, 63534451: 63534451
33 AXIN2 NM_004655.3(AXIN2): c.828G> A (p.Arg276=) single nucleotide variant Benign/Likely benign rs730881404 GRCh38 Chromosome 17, 65549648: 65549648
34 AXIN2 NM_004655.3(AXIN2): c.828G> A (p.Arg276=) single nucleotide variant Benign/Likely benign rs730881404 GRCh37 Chromosome 17, 63545766: 63545766
35 AXIN2 NM_004655.3(AXIN2): c.227C> G (p.Thr76Ser) single nucleotide variant Uncertain significance rs730881402 GRCh38 Chromosome 17, 65558394: 65558394
36 AXIN2 NM_004655.3(AXIN2): c.227C> G (p.Thr76Ser) single nucleotide variant Uncertain significance rs730881402 GRCh37 Chromosome 17, 63554512: 63554512
37 AXIN2 NM_004655.3(AXIN2): c.144C> T (p.Pro48=) single nucleotide variant Conflicting interpretations of pathogenicity rs144099816 GRCh38 Chromosome 17, 65558477: 65558477
38 AXIN2 NM_004655.3(AXIN2): c.144C> T (p.Pro48=) single nucleotide variant Conflicting interpretations of pathogenicity rs144099816 GRCh37 Chromosome 17, 63554595: 63554595
39 AXIN2 NM_004655.3(AXIN2): c.14T> G (p.Met5Arg) single nucleotide variant Uncertain significance rs730881397 GRCh38 Chromosome 17, 65558607: 65558607
40 AXIN2 NM_004655.3(AXIN2): c.14T> G (p.Met5Arg) single nucleotide variant Uncertain significance rs730881397 GRCh37 Chromosome 17, 63554725: 63554725
41 AXIN2 NM_004655.3(AXIN2): c.-116-13delC deletion Benign/Likely benign rs530658215 GRCh38 Chromosome 17, 65558749: 65558749
42 AXIN2 NM_004655.3(AXIN2): c.-116-13delC deletion Benign/Likely benign rs530658215 GRCh37 Chromosome 17, 63554867: 63554867
43 AXIN2 NM_004655.3(AXIN2): c.2124G> C (p.Ser708=) single nucleotide variant Benign/Likely benign rs143243661 GRCh38 Chromosome 17, 65536337: 65536337
44 AXIN2 NM_004655.3(AXIN2): c.2124G> C (p.Ser708=) single nucleotide variant Benign/Likely benign rs143243661 GRCh37 Chromosome 17, 63532455: 63532455
45 AXIN2 NM_004655.3(AXIN2): c.1713C> T (p.Gly571=) single nucleotide variant Conflicting interpretations of pathogenicity rs761978806 GRCh37 Chromosome 17, 63533181: 63533181
46 AXIN2 NM_004655.3(AXIN2): c.1713C> T (p.Gly571=) single nucleotide variant Conflicting interpretations of pathogenicity rs761978806 GRCh38 Chromosome 17, 65537063: 65537063
47 AXIN2 NM_004655.3(AXIN2): c.1547A> G (p.His516Arg) single nucleotide variant Uncertain significance rs864622657 GRCh37 Chromosome 17, 63533607: 63533607
48 AXIN2 NM_004655.3(AXIN2): c.1547A> G (p.His516Arg) single nucleotide variant Uncertain significance rs864622657 GRCh38 Chromosome 17, 65537489: 65537489
49 AXIN2 NM_004655.3(AXIN2): c.2405+4A> G single nucleotide variant Uncertain significance rs377423720 GRCh38 Chromosome 17, 65533908: 65533908
50 AXIN2 NM_004655.3(AXIN2): c.2405+4A> G single nucleotide variant Uncertain significance rs377423720 GRCh37 Chromosome 17, 63530026: 63530026

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:

37
# 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 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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