AAT9
MCID: ART118
MIFTS: 29

Aortic Aneurysm, Familial Thoracic 9 (AAT9)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 9

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 9:

Name: Aortic Aneurysm, Familial Thoracic 9 57 72 29 6 70
Aortic Aneurysm, Thoracic, with or Without Aortic Dissection 57 72 6
Aat9 57 72
Aneurysm, Aortic, Thoracic, Familial, Type 9 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
aortic aneurysm, familial thoracic 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616166
OMIM Phenotypic Series 57 PS607086
MeSH 44 D017545
UMLS 70 C4015368

Summaries for Aortic Aneurysm, Familial Thoracic 9

UniProtKB/Swiss-Prot : 72 Aortic aneurysm, familial thoracic 9: 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 9, also known as aortic aneurysm, thoracic, with or without aortic dissection, is related to aortic aneurysm, familial thoracic 10 and aortic dissection. An important gene associated with Aortic Aneurysm, Familial Thoracic 9 is MFAP5 (Microfibril Associated Protein 5), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include smooth muscle, and related phenotypes are high palate and mitral valve prolapse

More information from OMIM: 616166 PS607086

Related Diseases for Aortic Aneurysm, Familial Thoracic 9

Graphical network of the top 20 diseases related to Aortic Aneurysm, Familial Thoracic 9:



Diseases related to Aortic Aneurysm, Familial Thoracic 9

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 9

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 9:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 high palate 31 occasional (7.5%) HP:0000218
2 mitral valve prolapse 31 occasional (7.5%) HP:0001634
3 arachnodactyly 31 occasional (7.5%) HP:0001166
4 atrial fibrillation 31 occasional (7.5%) HP:0005110
5 pectus carinatum 31 HP:0000768
6 pectus excavatum 31 HP:0000767
7 thoracic aortic aneurysm 31 HP:0012727

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Chest External Features:
pectus carinatum
pectus excavatum

Skeletal Hands:
arachnodactyly (in some patients)

Head And Neck Mouth:
high-arched palate (rare)

Cardiovascular Vascular:
thoracic aortic aneurysm
aortic root dilation
thoracic aortic dissection (rare)

Cardiovascular Heart:
atrial fibrillation (in some patients)
mitral valve prolapse (rare)

Clinical features from OMIM®:

616166 (Updated 05-Apr-2021)

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 9

Search Clinical Trials , NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 9

Genetic Tests for Aortic Aneurysm, Familial Thoracic 9

Genetic tests related to Aortic Aneurysm, Familial Thoracic 9:

# Genetic test Affiliating Genes
1 Aortic Aneurysm, Familial Thoracic 9 29 MFAP5

Anatomical Context for Aortic Aneurysm, Familial Thoracic 9

MalaCards organs/tissues related to Aortic Aneurysm, Familial Thoracic 9:

40
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 9

Articles related to Aortic Aneurysm, Familial Thoracic 9:

# Title Authors PMID Year
1
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. 6 57
25434006 2014
2
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 6
27432961 2016
3
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 6
26838787 2016
4
Understanding the molecular epidemiology and global relationships of Brachyspira hyodysenteriae from swine herds in the United States: a multi-locus sequence typing approach. 61
25192199 2014
5
Dissemination of clonal groups of Brachyspira hyodysenteriae amongst pig farms in Spain, and their relationships to isolates from other countries. 61
22723934 2012
6
Multilocus sequence typing as a tool for studying the molecular epidemiology and population structure of Brachyspira hyodysenteriae. 61
19369014 2009

Variations for Aortic Aneurysm, Familial Thoracic 9

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 9:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MFAP5 NM_003480.4(MFAP5):c.62G>T (p.Trp21Leu) SNV Pathogenic 162200 rs724159961 GRCh37: 12:8813491-8813491
GRCh38: 12:8660895-8660895
2 LOX , SRFBP1 NM_002317.7(LOX):c.839G>T (p.Ser280Ile) SNV Pathogenic 267291 rs886040965 GRCh37: 5:121411138-121411138
GRCh38: 5:122075443-122075443
3 LOX , SRFBP1 NM_002317.7(LOX):c.893T>G (p.Met298Arg) SNV Pathogenic 228806 rs876657852 GRCh37: 5:121409850-121409850
GRCh38: 5:122074155-122074155
4 LOX NM_002317.7(LOX):c.125G>A (p.Trp42Ter) SNV Pathogenic 267292 rs886040966 GRCh37: 5:121413556-121413556
GRCh38: 5:122077861-122077861
5 LOX , SRFBP1 NM_002317.7(LOX):c.800A>C (p.Gln267Pro) SNV Pathogenic 267293 rs886040967 GRCh37: 5:121411177-121411177
GRCh38: 5:122075482-122075482
6 MFAP5 NM_003480.4(MFAP5):c.444del (p.Arg149fs) Deletion Pathogenic 997571 GRCh37: 12:8800765-8800765
GRCh38: 12:8648169-8648169
7 MFAP5 NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter) SNV Pathogenic 162199 rs727502791 GRCh37: 12:8800737-8800737
GRCh38: 12:8648141-8648141
8 MFAP5 NM_003480.4(MFAP5):c.2T>C (p.Met1Thr) SNV Pathogenic 1033583 GRCh37: 12:8814699-8814699
GRCh38: 12:8662103-8662103
9 LOX , SRFBP1 NM_002317.7(LOX):c.1009C>T (p.Arg337Ter) SNV Likely pathogenic 974875 GRCh37: 5:121409734-121409734
GRCh38: 5:122074039-122074039
10 LOX , SRFBP1 NM_002317.7(LOX):c.878+12G>T SNV Uncertain significance 931970 GRCh37: 5:121411087-121411087
GRCh38: 5:122075392-122075392
11 LOX NM_002317.7(LOX):c.132G>C (p.Gln44His) SNV Uncertain significance 992529 GRCh37: 5:121413549-121413549
GRCh38: 5:122077854-122077854
12 LOX NM_002317.7(LOX):c.476C>A (p.Pro159Gln) SNV Benign 445585 rs41407546 GRCh37: 5:121413205-121413205
GRCh38: 5:122077510-122077510
13 LOX NM_002317.7(LOX):c.204C>T (p.Arg68=) SNV Benign 785135 rs201057539 GRCh37: 5:121413477-121413477
GRCh38: 5:122077782-122077782
14 LOX NM_002317.7(LOX):c.545C>G (p.Pro182Arg) SNV not provided 973085 GRCh37: 5:121413136-121413136
GRCh38: 5:122077441-122077441

UniProtKB/Swiss-Prot genetic disease variations for Aortic Aneurysm, Familial Thoracic 9:

72
# Symbol AA change Variation ID SNP ID
1 MFAP5 p.Trp21Leu VAR_072688 rs724159961

Expression for Aortic Aneurysm, Familial Thoracic 9

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 9.

Pathways for Aortic Aneurysm, Familial Thoracic 9

Pathways related to Aortic Aneurysm, Familial Thoracic 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 MFAP5 LOX
2
Show member pathways
10.49 MFAP5 LOX

GO Terms for Aortic Aneurysm, Familial Thoracic 9

Cellular components related to Aortic Aneurysm, Familial Thoracic 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 MFAP5 LOX

Biological processes related to Aortic Aneurysm, Familial Thoracic 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 MFAP5 LOX

Sources for Aortic Aneurysm, Familial Thoracic 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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