AAT11
MCID: ART133
MIFTS: 17

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 57 75
Aortic Aneurysm, Familial Thoracic 11, Susceptibility to 57 29 6
Aat11 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity
reduced penetrance


HPO:

32
aortic aneurysm, familial thoracic 11:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617349
MeSH 44 D017545
SNOMED-CT via HPO 69 263681008 308546005

Summaries for Aortic Aneurysm, Familial Thoracic 11

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 617349

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 9.7 FOXE3 LINC01389

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 11

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
aortic dissection
aortic root dilation
aneurysm of ascending aorta


Clinical features from OMIM:

617349

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 11:

32
# Description HPO Frequency HPO Source Accession
1 aortic dissection 32 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 29 FOXE3

Anatomical Context for Aortic Aneurysm, Familial Thoracic 11

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

41
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:

75
# 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.457G> C (p.Asp153His) single nucleotide variant risk factor rs367943249 GRCh38 Chromosome 1, 47416772: 47416772
3 FOXE3 NM_012186.2(FOXE3): c.410G> A (p.Gly137Asp) single nucleotide variant risk factor rs749960549 GRCh37 Chromosome 1, 47882397: 47882397
4 FOXE3 NM_012186.2(FOXE3): c.410G> A (p.Gly137Asp) single nucleotide variant risk factor rs749960549 GRCh38 Chromosome 1, 47416725: 47416725

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 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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