AAT11
MCID: ART133
MIFTS: 19

Aortic Aneurysm, Familial Thoracic 11 (AAT11)

Categories: Cardiovascular diseases, Genetic 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 56 73
Aortic Aneurysm, Familial Thoracic 11, Susceptibility to 56 29 6
Aat11 56 73
Aneurysm, Aortic, Familial Thoracic, Type 11 39

Characteristics:

OMIM:

56
Miscellaneous:
variable expressivity
reduced penetrance

Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 56 617349
OMIM Phenotypic Series 56 PS607086
MeSH 43 D017545
SNOMED-CT via HPO 68 263681008 308546005

Summaries for Aortic Aneurysm, Familial Thoracic 11

UniProtKB/Swiss-Prot : 73 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, also known as aortic aneurysm, familial thoracic 11, susceptibility to, is related to cataract 34, multiple types. An important gene associated with Aortic Aneurysm, Familial Thoracic 11 is FOXE3 (Forkhead Box E3). Affiliated tissues include smooth muscle, and related phenotype is aortic dissection.

More information from OMIM: 617349 PS607086

Related Diseases for Aortic Aneurysm, Familial Thoracic 11

Diseases in the Aortic Aneurysm, Familial Thoracic 1 family:

Aortic Aneurysm, Familial Thoracic 4 Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 6 Aortic Aneurysm, Familial Thoracic 7
Aortic Aneurysm, Familial Thoracic 8 Aortic Aneurysm, Familial Thoracic 9
Aortic Aneurysm, Familial Thoracic 10 Aortic Aneurysm, Familial Thoracic 11

Diseases related to Aortic Aneurysm, Familial Thoracic 11 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 34, multiple types 9.2 LINC01389 FOXE3

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 11

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 11:

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

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
aortic dissection
aneurysm of ascending aorta
aortic root dilation

Clinical features from OMIM:

617349

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 29 FOXE3

Anatomical Context for Aortic Aneurysm, Familial Thoracic 11

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

40
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 11

Articles related to Aortic Aneurysm, Familial Thoracic 11:

# Title Authors PMID Year
1
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. 56 6
26854927 2016
2
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 6
25173340 2014
3
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 6
24882528 2014
4
Heritable Thoracic Aortic Disease Overview 6
20301299 2003

Variations for Aortic Aneurysm, Familial Thoracic 11

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXE3 NM_012186.3(FOXE3):c.457G>C (p.Asp153His)SNV Likely pathogenic,risk factor 375651 rs367943249 1:47882444-47882444 1:47416772-47416772
2 FOXE3 NM_012186.3(FOXE3):c.410G>A (p.Gly137Asp)SNV Likely pathogenic,risk factor 375652 rs749960549 1:47882397-47882397 1:47416725-47416725

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

73
# Symbol AA change Variation ID SNP ID
1 FOXE3 p.Gly137Asp VAR_078114 rs749960549
2 FOXE3 p.Asp153His VAR_078115 rs367943249

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
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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