MCID: AXN008
MIFTS: 13

Axin2-Related Attenuated Familial Adenomatous Polyposis

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

Aliases & Classifications for Axin2-Related Attenuated Familial Adenomatous Polyposis

MalaCards integrated aliases for Axin2-Related Attenuated Familial Adenomatous Polyposis:

Name: Axin2-Related Attenuated Familial Adenomatous Polyposis 60
Axin2-Related Attenuated Familial Polyposis Coli 60
Axin2-Related Attenuated Fap 60
Axin2-Related Afap 60

Characteristics:

Orphanet epidemiological data:

60
axin2-related attenuated familial adenomatous polyposis
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



External Ids:

ICD10 via Orphanet 35 D12.6
Orphanet 60 ORPHA401911
SNOMED-CT via HPO 70 363406005 399505005

Summaries for Axin2-Related Attenuated Familial Adenomatous Polyposis

MalaCards based summary : Axin2-Related Attenuated Familial Adenomatous Polyposis, is also known as axin2-related attenuated familial polyposis coli. An important gene associated with Axin2-Related Attenuated Familial Adenomatous Polyposis is AXIN2 (Axin 2). Affiliated tissues include colon, and related phenotypes are adenomatous colonic polyposis and colorectal polyposis

Related Diseases for Axin2-Related Attenuated Familial Adenomatous Polyposis

Diseases in the Attenuated Familial Adenomatous Polyposis family:

Axin2-Related Attenuated Familial Adenomatous Polyposis

Symptoms & Phenotypes for Axin2-Related Attenuated Familial Adenomatous Polyposis

Human phenotypes related to Axin2-Related Attenuated Familial Adenomatous Polyposis:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenomatous colonic polyposis 60 33 frequent (33%) Frequent (79-30%) HP:0005227
2 colorectal polyposis 60 33 frequent (33%) Frequent (79-30%) HP:0200063
3 colon cancer 60 33 occasional (7.5%) Occasional (29-5%) HP:0003003
4 neoplasm of the rectum 60 Occasional (29-5%)
5 sparse hair 60 Excluded (0%)
6 ectodermal dysplasia 60 Excluded (0%)
7 abnormality of odontoid tissue 60 Excluded (0%)

Drugs & Therapeutics for Axin2-Related Attenuated Familial Adenomatous Polyposis

Search Clinical Trials , NIH Clinical Center for Axin2-Related Attenuated Familial Adenomatous Polyposis

Genetic Tests for Axin2-Related Attenuated Familial Adenomatous Polyposis

Anatomical Context for Axin2-Related Attenuated Familial Adenomatous Polyposis

MalaCards organs/tissues related to Axin2-Related Attenuated Familial Adenomatous Polyposis:

42
Colon

Publications for Axin2-Related Attenuated Familial Adenomatous Polyposis

Variations for Axin2-Related Attenuated Familial Adenomatous Polyposis

Expression for Axin2-Related Attenuated Familial Adenomatous Polyposis

Search GEO for disease gene expression data for Axin2-Related Attenuated Familial Adenomatous Polyposis.

Pathways for Axin2-Related Attenuated Familial Adenomatous Polyposis

GO Terms for Axin2-Related Attenuated Familial Adenomatous Polyposis

Sources for Axin2-Related Attenuated Familial Adenomatous Polyposis

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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