AAT9
MCID: ART118
MIFTS: 19

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 58 76 30 6 74
Aortic Aneurysm, Thoracic, with or Without Aortic Dissection 58 76
Aat9 58 76
Aneurysm, Aortic, Thoracic, Familial, Type 9 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
aortic aneurysm, familial thoracic 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Aortic Aneurysm, Familial Thoracic 9

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Aortic Aneurysm, Familial Thoracic 9 is MFAP5 (Microfibril Associated Protein 5). Affiliated tissues include smooth muscle, and related phenotypes are high palate and mitral valve prolapse

Description from OMIM: 616166

Related Diseases for Aortic Aneurysm, Familial Thoracic 9

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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 10 11.9

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 9

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 9:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 high palate 33 occasional (7.5%) HP:0000218
2 mitral valve prolapse 33 occasional (7.5%) HP:0001634
3 arachnodactyly 33 occasional (7.5%) HP:0001166
4 atrial fibrillation 33 occasional (7.5%) HP:0005110
5 pectus excavatum 33 HP:0000767
6 pectus carinatum 33 HP:0000768
7 thoracic aortic aneurysm 33 HP:0012727

Symptoms via clinical synopsis from OMIM:

58
Chest External Features:
pectus excavatum
pectus carinatum

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

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 30 MFAP5

Anatomical Context for Aortic Aneurysm, Familial Thoracic 9

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

42
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 9

Variations for Aortic Aneurysm, Familial Thoracic 9

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

76
# Symbol AA change Variation ID SNP ID
1 MFAP5 p.Trp21Leu VAR_072688 rs724159961

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MFAP5 NM_003480.3(MFAP5): c.472C> T (p.Arg158Ter) single nucleotide variant Pathogenic rs727502791 GRCh37 Chromosome 12, 8800737: 8800737
2 MFAP5 NM_003480.3(MFAP5): c.472C> T (p.Arg158Ter) single nucleotide variant Pathogenic rs727502791 GRCh38 Chromosome 12, 8648141: 8648141
3 MFAP5 NM_003480.3(MFAP5): c.62G> T (p.Trp21Leu) single nucleotide variant Pathogenic rs724159961 GRCh37 Chromosome 12, 8813491: 8813491
4 MFAP5 NM_003480.3(MFAP5): c.62G> T (p.Trp21Leu) single nucleotide variant Pathogenic rs724159961 GRCh38 Chromosome 12, 8660895: 8660895

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

GO Terms for Aortic Aneurysm, Familial Thoracic 9

Sources for Aortic Aneurysm, Familial Thoracic 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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