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 54 71
Aortic Aneurysm, Familial Thoracic 11, Susceptibility to 29
Aat11 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance
variable expressivity


Classifications:



External Ids:

OMIM 54 617349
MedGen 40 CN240581
MeSH 42 D017545

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. 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:

54

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


Clinical features from OMIM:

617349

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 11

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165

Search 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:

id Genetic test Affiliating Genes
1 Aortic Aneurysm, Familial Thoracic 11, Susceptibility to 29

Anatomical Context for Aortic Aneurysm, Familial Thoracic 11

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

39
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
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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