MCID: ART133
MIFTS: 16

Aortic Aneurysm, Familial Thoracic 11

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 11

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 11:

Name: Aortic Aneurysm, Familial Thoracic 11 53 71
Aortic Aneurysm, Familial Thoracic 11, Susceptibility to 53 28
Aat11 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance
variable expressivity


HPO:

31
aortic aneurysm, familial thoracic 11:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

OMIM 53 617349
MeSH 41 D017545
SNOMED-CT via HPO 65 263681008 308546005

Summaries for Aortic Aneurysm, Familial Thoracic 11

UniProtKB/Swiss-Prot : 71 Aortic aneurysm, familial thoracic 11: A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.

MalaCards based summary : Aortic Aneurysm, Familial Thoracic 11, is also known as aortic aneurysm, familial thoracic 11, susceptibility to, and has symptoms including aortic dissection An important gene associated with Aortic Aneurysm, Familial Thoracic 11 is FOXE3 (Forkhead Box E3). Affiliated tissues include smooth muscle.

Description from OMIM: 617349

Related Diseases for Aortic Aneurysm, Familial Thoracic 11

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 11

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Vascular:
aortic root dilation
aneurysm of ascending aorta
aortic dissection


Clinical features from OMIM:

617349

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 11:

31
# Description HPO Frequency HPO Source Accession
1 aortic dissection 31 HP:0002647

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 11

Search Clinical Trials , NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 11

Genetic Tests for Aortic Aneurysm, Familial Thoracic 11

Genetic tests related to Aortic Aneurysm, Familial Thoracic 11:

# Genetic test Affiliating Genes
1 Aortic Aneurysm, Familial Thoracic 11, Susceptibility to 28 FOXE3

Anatomical Context for Aortic Aneurysm, Familial Thoracic 11

MalaCards organs/tissues related to Aortic Aneurysm, Familial Thoracic 11:

38
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 11

Variations for Aortic Aneurysm, Familial Thoracic 11

UniProtKB/Swiss-Prot genetic disease variations for Aortic Aneurysm, Familial Thoracic 11:

71
# Symbol AA change Variation ID SNP ID
1 FOXE3 p.Gly137Asp VAR_078114 rs749960549
2 FOXE3 p.Asp153His VAR_078115 rs367943249

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXE3 NM_012186.2(FOXE3): c.457G> C (p.Asp153His) single nucleotide variant risk factor rs367943249 GRCh37 Chromosome 1, 47882444: 47882444
2 FOXE3 NM_012186.2(FOXE3): c.410G> A (p.Gly137Asp) single nucleotide variant risk factor rs749960549 GRCh37 Chromosome 1, 47882397: 47882397

Expression for Aortic Aneurysm, Familial Thoracic 11

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 11.

Pathways for Aortic Aneurysm, Familial Thoracic 11

GO Terms for Aortic Aneurysm, Familial Thoracic 11

Sources for Aortic Aneurysm, Familial Thoracic 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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