MCID: AXN008
MIFTS: 12

Axin2-Related Attenuated Familial Adenomatous Polyposis

Categories: 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 58
Axin2-Related Attenuated Familial Polyposis Coli 58
Axin2-Related Attenuated Fap 58
Axin2-Related Afap 58

Characteristics:

Orphanet epidemiological data:

58
axin2-related attenuated familial adenomatous polyposis
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

ICD10 via Orphanet 33 D12.6
Orphanet 58 ORPHA401911
SNOMED-CT via HPO 68 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:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenomatous colonic polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0005227
2 colorectal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0200063
3 colon cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0003003
4 neoplasm of the rectum 58 Occasional (29-5%)
5 sparse hair 58 Excluded (0%)
6 ectodermal dysplasia 58 Excluded (0%)
7 abnormality of odontoid tissue 58 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:

40
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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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