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 57 75 29 6 73
Aortic Aneurysm, Thoracic, with or Without Aortic Dissection 57 75
Aat9 57 75
Aneurysm, Aortic, Thoracic, Familial, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
aortic aneurysm, familial thoracic 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Aortic Aneurysm, Familial Thoracic 9

UniProtKB/Swiss-Prot : 75 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 pectus excavatum and high palate

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 11.8

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 9

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 9:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 high palate 32 occasional (7.5%) HP:0000218
3 pectus carinatum 32 HP:0000768
4 arachnodactyly 32 occasional (7.5%) HP:0001166
5 mitral valve prolapse 32 occasional (7.5%) HP:0001634
6 atrial fibrillation 32 occasional (7.5%) HP:0005110
7 thoracic aortic aneurysm 32 HP:0012727

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:

41
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:

75
# 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 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
Content
Loading form....