MCID: FML299
MIFTS: 24

Familial Adenomatous Polyposis 3

Categories: Genetic diseases, Gastrointestinal diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Bone diseases

Aliases & Classifications for Familial Adenomatous Polyposis 3

MalaCards integrated aliases for Familial Adenomatous Polyposis 3:

Name: Familial Adenomatous Polyposis 3 57 75 29 6
Fap3 57 75
Nthl1-Related Attenuated Familial Adenomatous Polyposis 59
Nthl1-Related Attenuated Fap 59
Nthl1-Related Afap 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
increased susceptibility to multiple carcinomas
carcinomas tend to develop in mid or late adulthood


HPO:

32
familial adenomatous polyposis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616415
Orphanet 59 ORPHA454840
ICD10 via Orphanet 34 D12.6
MeSH 44 D011125

Summaries for Familial Adenomatous Polyposis 3

OMIM : 57 Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015). For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100). (616415)

MalaCards based summary : Familial Adenomatous Polyposis 3, also known as fap3, is related to tuberous sclerosis 2 and tuberous sclerosis. An important gene associated with Familial Adenomatous Polyposis 3 is NTHL1 (Nth Like DNA Glycosylase 1). Affiliated tissues include colon, skin and breast, and related phenotypes are meningioma and breast carcinoma

UniProtKB/Swiss-Prot : 75 Familial adenomatous polyposis 3: A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.

Related Diseases for Familial Adenomatous Polyposis 3

Diseases in the Familial Adenomatous Polyposis family:

Familial Adenomatous Polyposis 1 Familial Adenomatous Polyposis 2
Familial Adenomatous Polyposis 3 Familial Adenomatous Polyposis 4

Diseases related to Familial Adenomatous Polyposis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 2 9.2 NTHL1 TSC2
2 tuberous sclerosis 9.0 NTHL1 TSC2

Symptoms & Phenotypes for Familial Adenomatous Polyposis 3

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
colorectal adenomas, multiple

Neoplasia:
increased susceptibility to multiple carcinomas
colorectal cancer
endometrial cancer
skin cancer
breast cancer
more

Clinical features from OMIM:

616415

Human phenotypes related to Familial Adenomatous Polyposis 3:

32
# Description HPO Frequency HPO Source Accession
1 meningioma 32 HP:0002858
2 breast carcinoma 32 HP:0003002
3 neoplasm of the skin 32 HP:0008069
4 bladder neoplasm 32 HP:0009725

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 NTHL1 TSC2

Drugs & Therapeutics for Familial Adenomatous Polyposis 3

Search Clinical Trials , NIH Clinical Center for Familial Adenomatous Polyposis 3

Genetic Tests for Familial Adenomatous Polyposis 3

Genetic tests related to Familial Adenomatous Polyposis 3:

# Genetic test Affiliating Genes
1 Familial Adenomatous Polyposis 3 29 NTHL1

Anatomical Context for Familial Adenomatous Polyposis 3

MalaCards organs/tissues related to Familial Adenomatous Polyposis 3:

41
Colon, Skin, Breast

Publications for Familial Adenomatous Polyposis 3

Variations for Familial Adenomatous Polyposis 3

ClinVar genetic disease variations for Familial Adenomatous Polyposis 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NTHL1 NM_002528.6(NTHL1): c.268C> T (p.Gln90Ter) single nucleotide variant Uncertain significance rs150766139 GRCh38 Chromosome 16, 2046238: 2046238
2 NTHL1 NM_002528.6(NTHL1): c.268C> T (p.Gln90Ter) single nucleotide variant Uncertain significance rs150766139 GRCh37 Chromosome 16, 2096239: 2096239
3 NTHL1 NM_002528.6(NTHL1): c.709+1G> A single nucleotide variant Pathogenic rs372946560 GRCh38 Chromosome 16, 2043566: 2043566
4 NTHL1 NM_002528.6(NTHL1): c.709+1G> A single nucleotide variant Pathogenic rs372946560 GRCh37 Chromosome 16, 2093567: 2093567

Expression for Familial Adenomatous Polyposis 3

Search GEO for disease gene expression data for Familial Adenomatous Polyposis 3.

Pathways for Familial Adenomatous Polyposis 3

GO Terms for Familial Adenomatous Polyposis 3

Sources for Familial Adenomatous Polyposis 3

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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