ODCRCS
MCID: OLG005
MIFTS: 29

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 57 72 36 29 13 6 70
Odcrcs 57 72
Autosomal Dominant Ectodermal Dysplasia-Cancer Predisposition Syndrome 58
Oligodontia-Cancer Predisposition Syndrome 58
Tooth Agenesis-Colorectal Cancer Syndrome 57
Cancer, Oligodontia-Colorectal, Syndrome 39

Characteristics:

Orphanet epidemiological data:

58
oligodontia-cancer predisposition syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
oligodontia-colorectal cancer syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM® 57 608615
KEGG 36 H00857
UMLS via Orphanet 71 C1837750
Orphanet 58 ORPHA300576
MedGen 41 C1837750
SNOMED-CT via HPO 68 263681008
UMLS 70 C1837750

Summaries for Oligodontia-Colorectal Cancer Syndrome

KEGG : 36 Oligodontia-colorectal cancer syndrome is a condition of dominant inheritance in which severe permanent tooth agenesis and a variable colorectal neoplasia occur. Affected individuals lack at least eight permanent teeth. The disease is caused by a nonsense mutation in AXIN2.

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

UniProtKB/Swiss-Prot : 72 Oligodontia-colorectal cancer syndrome: Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types.

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 31 occasional (7.5%) HP:0002209
2 adenomatous colonic polyposis 31 very rare (1%) HP:0005227
3 oligodontia 31 HP:0000677

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Colon, Breast

Publications for Oligodontia-Colorectal Cancer Syndrome

Articles related to Oligodontia-Colorectal Cancer Syndrome:

# Title Authors PMID Year
1
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. 6 57
21626677 2011
2
AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. 6 57
21416598 2011
3
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. 57 6
15042511 2004
4
Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis. 6
27090353 2016
5
An AXIN2 Mutant Allele Associated With Predisposition to Colorectal Neoplasia Has Context-Dependent Effects on AXIN2 Protein Function. 6
26025668 2015
6
The β-catenin destruction complex. 6
23169527 2013
7
Mutations in WNT10A are present in more than half of isolated hypodontia cases. 6
22581971 2012
8
Germline mutations of AXIN2 are not associated with nonsyndromic colorectal cancer. 6
15841489 2005
9
Domains of axin involved in protein-protein interactions, Wnt pathway inhibition, and intracellular localization. 6
10330403 1999
10
Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. 61
16941501 2006

Variations for Oligodontia-Colorectal Cancer Syndrome

ClinVar genetic disease variations for Oligodontia-Colorectal Cancer Syndrome:

6 (show top 50) (show all 1452)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AXIN2 NM_004655.4(AXIN2):c.194_195del (p.Pro65fs) Deletion Pathogenic 464585 rs1555583659 GRCh37: 17:63554544-63554545
GRCh38: 17:65558426-65558427
2 AXIN2 NM_004655.4(AXIN2):c.2137C>T (p.Gln713Ter) SNV Pathogenic 841462 GRCh37: 17:63532442-63532442
GRCh38: 17:65536324-65536324
3 AXIN2 NM_004655.4(AXIN2):c.2331C>G (p.Tyr777Ter) SNV Pathogenic 849114 GRCh37: 17:63530104-63530104
GRCh38: 17:65533986-65533986
4 AXIN2 NM_004655.4(AXIN2):c.1293C>G (p.Tyr431Ter) SNV Pathogenic 852961 GRCh37: 17:63533861-63533861
GRCh38: 17:65537743-65537743
5 AXIN2 NM_004655.4(AXIN2):c.173del (p.Asn58fs) Deletion Pathogenic 858539 GRCh37: 17:63554566-63554566
GRCh38: 17:65558448-65558448
6 AXIN2 NM_004655.4(AXIN2):c.364del (p.Asn121_Leu122insTer) Deletion Pathogenic 863651 GRCh37: 17:63554375-63554375
GRCh38: 17:65558257-65558257
7 AXIN2 NM_004655.4(AXIN2):c.1036C>T (p.Gln346Ter) SNV Pathogenic 658114 rs1598104209 GRCh37: 17:63537596-63537596
GRCh38: 17:65541478-65541478
8 AXIN2 NM_004655.4(AXIN2):c.333G>A (p.Trp111Ter) SNV Pathogenic 664578 rs1598119889 GRCh37: 17:63554406-63554406
GRCh38: 17:65558288-65558288
9 AXIN2 NM_004655.4(AXIN2):c.1912C>T (p.Gln638Ter) SNV Pathogenic 664235 rs1598097196 GRCh37: 17:63532667-63532667
GRCh38: 17:65536549-65536549
10 AXIN2 NM_004655.4(AXIN2):c.1195C>T (p.Arg399Ter) SNV Pathogenic 933270 GRCh37: 17:63534326-63534326
GRCh38: 17:65538208-65538208
11 AXIN2 NM_004655.4(AXIN2):c.1831G>T (p.Glu611Ter) SNV Pathogenic 935268 GRCh37: 17:63533063-63533063
GRCh38: 17:65536945-65536945
12 AXIN2 NM_004655.4(AXIN2):c.1249del (p.Ala417fs) Deletion Pathogenic 936374 GRCh37: 17:63533905-63533905
GRCh38: 17:65537787-65537787
13 AXIN2 NM_004655.4(AXIN2):c.1878_1879del (p.Ser626fs) Deletion Pathogenic 937467 GRCh37: 17:63533015-63533016
GRCh38: 17:65536897-65536898
14 AXIN2 NM_004655.4(AXIN2):c.1637del (p.Gly546fs) Deletion Pathogenic 464561 rs1555577625 GRCh37: 17:63533517-63533517
GRCh38: 17:65537399-65537399
15 AXIN2 NM_004655.4(AXIN2):c.1642G>T (p.Glu548Ter) SNV Pathogenic 533194 rs367624903 GRCh37: 17:63533512-63533512
GRCh38: 17:65537394-65537394
16 AXIN2 NM_004655.4(AXIN2):c.1822del (p.Leu608fs) Deletion Pathogenic 582788 rs1567754914 GRCh37: 17:63533072-63533072
GRCh38: 17:65536954-65536954
17 AXIN2 NM_004655.4(AXIN2):c.234G>A (p.Trp78Ter) SNV Pathogenic 577956 rs1567769335 GRCh37: 17:63554505-63554505
GRCh38: 17:65558387-65558387
18 AXIN2 NM_004655.4(AXIN2):c.2299_2302ACTT[1] (p.Tyr768fs) Microsatellite Pathogenic 666073 rs1598093952 GRCh37: 17:63530129-63530132
GRCh38: 17:65534011-65534014
19 AXIN2 NM_004655.4(AXIN2):c.1769_1800dup (p.Gly601fs) Duplication Pathogenic 836749 GRCh37: 17:63533093-63533094
GRCh38: 17:65536975-65536976
20 AXIN2 NM_004655.4(AXIN2):c.1206_1207AG[6] (p.Gly406fs) Microsatellite Pathogenic 840708 GRCh37: 17:63533938-63533939
GRCh38: 17:65537820-65537821
21 AXIN2 NM_004655.4(AXIN2):c.1795dup (p.Ala599fs) Duplication Pathogenic 861915 GRCh37: 17:63533098-63533099
GRCh38: 17:65536980-65536981
22 AXIN2 NM_004655.4(AXIN2):c.1598_1613dup (p.Val539fs) Duplication Pathogenic 862377 GRCh37: 17:63533540-63533541
GRCh38: 17:65537422-65537423
23 AXIN2 NM_004655.4(AXIN2):c.1966C>T (p.Arg656Ter) SNV Pathogenic 5881 rs121908568 GRCh37: 17:63532613-63532613
GRCh38: 17:65536495-65536495
24 AXIN2 NM_004655.4(AXIN2):c.1994del (p.Gly665fs) Deletion Pathogenic 5880 rs267606674 GRCh37: 17:63532585-63532585
GRCh38: 17:65536467-65536467
25 AXIN2 NM_004655.4(AXIN2):c.1206_1207AG[4] (p.Glu405fs) Microsatellite Pathogenic 566626 rs771001164 GRCh37: 17:63533939-63533940
GRCh38: 17:65537821-65537822
26 AXIN2 NM_004655.4(AXIN2):c.730dup (p.Ser244fs) Duplication Pathogenic 651751 rs1056103847 GRCh37: 17:63554008-63554009
GRCh38: 17:65557890-65557891
27 AXIN2 NM_004655.4(AXIN2):c.761_762CT[1] (p.Leu255fs) Microsatellite Pathogenic 654706 rs1598118962 GRCh37: 17:63553975-63553976
GRCh38: 17:65557857-65557858
28 AXIN2 NM_004655.4(AXIN2):c.1646del (p.Tyr549fs) Deletion Pathogenic 533177 rs1555577613 GRCh37: 17:63533508-63533508
GRCh38: 17:65537390-65537390
29 AXIN2 NC_000017.11:g.(?_65536314)_(65536559_?)del Deletion Pathogenic 584012 GRCh37: 17:63532432-63532677
GRCh38: 17:65536314-65536559
30 AXIN2 NM_004655.4(AXIN2):c.1989G>A (p.Trp663Ter) SNV Pathogenic 40260 rs730882193 GRCh37: 17:63532590-63532590
GRCh38: 17:65536472-65536472
31 AXIN2 NM_004655.4(AXIN2):c.2309del (p.Phe770fs) Deletion Pathogenic 533178 rs1299440644 GRCh37: 17:63530126-63530126
GRCh38: 17:65534008-65534008
32 AXIN2 NM_004655.4(AXIN2):c.1994dup (p.Asn666fs) Duplication Pathogenic 545741 rs267606674 GRCh37: 17:63532584-63532585
GRCh38: 17:65536466-65536467
33 AXIN2 NM_004655.4(AXIN2):c.1594G>T (p.Glu532Ter) SNV Pathogenic 546009 rs755551294 GRCh37: 17:63533560-63533560
GRCh38: 17:65537442-65537442
34 AXIN2 NM_004655.4(AXIN2):c.1201-2A>G SNV Likely pathogenic 464525 rs775783026 GRCh37: 17:63533955-63533955
GRCh38: 17:65537837-65537837
35 AXIN2 NM_004655.4(AXIN2):c.1908-2A>G SNV Likely pathogenic 533167 rs978837790 GRCh37: 17:63532673-63532673
GRCh38: 17:65536555-65536555
36 AXIN2 NM_004655.4(AXIN2):c.956+1G>A SNV Likely pathogenic 1065340 GRCh37: 17:63545637-63545637
GRCh38: 17:65549519-65549519
37 AXIN2 NM_004655.4(AXIN2):c.1908-1G>A SNV Likely pathogenic 464582 rs773157765 GRCh37: 17:63532672-63532672
GRCh38: 17:65536554-65536554
38 AXIN2 NC_000017.11:g.(?_65528591)_(65549660_?)del Deletion Likely pathogenic 583566 GRCh37: 17:63524709-63545778
GRCh38: 17:65528591-65549660
39 AXIN2 NM_004655.4(AXIN2):c.815+1G>A SNV Likely pathogenic 950307 GRCh37: 17:63553923-63553923
GRCh38: 17:65557805-65557805
40 AXIN2 NM_004655.4(AXIN2):c.1060-1G>C SNV Likely pathogenic 841443 GRCh37: 17:63534462-63534462
GRCh38: 17:65538344-65538344
41 AXIN2 NM_004655.4(AXIN2):c.174C>T (p.Asn58=) SNV Conflicting interpretations of pathogenicity 415221 rs763012548 GRCh37: 17:63554565-63554565
GRCh38: 17:65558447-65558447
42 AXIN2 NM_004655.4(AXIN2):c.1443C>T (p.Leu481=) SNV Conflicting interpretations of pathogenicity 324647 rs886053272 GRCh37: 17:63533711-63533711
GRCh38: 17:65537593-65537593
43 AXIN2 NM_004655.4(AXIN2):c.2124G>A (p.Ser708=) SNV Conflicting interpretations of pathogenicity 324644 rs143243661 GRCh37: 17:63532455-63532455
GRCh38: 17:65536337-65536337
44 AXIN2 NM_004655.4(AXIN2):c.1347C>T (p.Thr449=) SNV Conflicting interpretations of pathogenicity 324648 rs762279806 GRCh37: 17:63533807-63533807
GRCh38: 17:65537689-65537689
45 AXIN2 NM_004655.4(AXIN2):c.1376G>A (p.Arg459His) SNV Conflicting interpretations of pathogenicity 182002 rs368525111 GRCh37: 17:63533778-63533778
GRCh38: 17:65537660-65537660
46 AXIN2 NM_004655.4(AXIN2):c.598G>A (p.Val200Met) SNV Conflicting interpretations of pathogenicity 240026 rs752081909 GRCh37: 17:63554141-63554141
GRCh38: 17:65558023-65558023
47 AXIN2 NM_004655.4(AXIN2):c.1531A>T (p.Thr511Ser) SNV Conflicting interpretations of pathogenicity 324646 rs376936740 GRCh37: 17:63533623-63533623
GRCh38: 17:65537505-65537505
48 AXIN2 NM_004655.4(AXIN2):c.2196G>A (p.Thr732=) SNV Conflicting interpretations of pathogenicity 240009 rs878854725 GRCh37: 17:63531785-63531785
GRCh38: 17:65535667-65535667
49 AXIN2 NM_004655.4(AXIN2):c.897C>T (p.Asp299=) SNV Conflicting interpretations of pathogenicity 324651 rs748143308 GRCh37: 17:63545697-63545697
GRCh38: 17:65549579-65549579
50 AXIN2 NM_004655.4(AXIN2):c.1404_1406CCA[7] (p.His474dup) Microsatellite Conflicting interpretations of pathogenicity 234272 rs570443161 GRCh37: 17:63533732-63533733
GRCh38: 17:65537614-65537615

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:

36
# 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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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