AAT8
MCID: ART107
MIFTS: 17

Aortic Aneurysm, Familial Thoracic 8 (AAT8)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 8

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 8:

Name: Aortic Aneurysm, Familial Thoracic 8 58 76 30 6 74
Aat8 58 76
Aneurysm, Aortic, Thoracic, Familial, Type 8 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
aortic dissection may occur in second decade of life


HPO:

33
aortic aneurysm, familial thoracic 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615436
MeSH 45 D017545
UMLS 74 C3809513

Summaries for Aortic Aneurysm, Familial Thoracic 8

UniProtKB/Swiss-Prot : 76 Aortic aneurysm, familial thoracic 8: 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 8, is also known as aat8. An important gene associated with Aortic Aneurysm, Familial Thoracic 8 is PRKG1 (Protein Kinase CGMP-Dependent 1). Affiliated tissues include smooth muscle, and related phenotypes are abdominal aortic aneurysm and coronary artery dissection

Description from OMIM: 615436

Related Diseases for Aortic Aneurysm, Familial Thoracic 8

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 8

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 8:

33
# Description HPO Frequency HPO Source Accession
1 abdominal aortic aneurysm 33 occasional (7.5%) HP:0005112
2 coronary artery dissection 33 occasional (7.5%) HP:0006702
3 coronary artery aneurysm 33 occasional (7.5%) HP:0030882
4 aortic dissection 33 HP:0002647
5 thoracic aortic aneurysm 33 HP:0012727

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
thoracic aortic aneurysm
thoracic aortic dissection
tortuosity of thoracic aorta (in some patients)
abdominal aortic aneurysm (in some patients)
coronary artery aneurysm (in some patients)
more
Cardiovascular Heart:
aneurysm of interatrial septum (in some patients)

Clinical features from OMIM:

615436

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 8

Search Clinical Trials , NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 8

Genetic Tests for Aortic Aneurysm, Familial Thoracic 8

Genetic tests related to Aortic Aneurysm, Familial Thoracic 8:

# Genetic test Affiliating Genes
1 Aortic Aneurysm, Familial Thoracic 8 30 PRKG1

Anatomical Context for Aortic Aneurysm, Familial Thoracic 8

MalaCards organs/tissues related to Aortic Aneurysm, Familial Thoracic 8:

42
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 8

Variations for Aortic Aneurysm, Familial Thoracic 8

UniProtKB/Swiss-Prot genetic disease variations for Aortic Aneurysm, Familial Thoracic 8:

76
# Symbol AA change Variation ID SNP ID
1 PRKG1 p.Arg177Gln VAR_070434 rs397515330

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 8:

6 (show top 50) (show all 117)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKG1 NM_001098512.2(PRKG1): c.1421A> T (p.Tyr474Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149710600 GRCh37 Chromosome 10, 54040611: 54040611
2 PRKG1 NM_001098512.2(PRKG1): c.1421A> T (p.Tyr474Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149710600 GRCh38 Chromosome 10, 52280851: 52280851
3 PRKG1 NM_001098512.2(PRKG1): c.1997G> C (p.Gly666Ala) single nucleotide variant Uncertain significance rs750949508 GRCh37 Chromosome 10, 54053641: 54053641
4 PRKG1 NM_001098512.2(PRKG1): c.1997G> C (p.Gly666Ala) single nucleotide variant Uncertain significance rs750949508 GRCh38 Chromosome 10, 52293881: 52293881
5 PRKG1 NM_006258.4(PRKG1): c.408G> A (p.Pro136=) single nucleotide variant Benign rs55806342 GRCh37 Chromosome 10, 52913020: 52913020
6 PRKG1 NM_006258.4(PRKG1): c.408G> A (p.Pro136=) single nucleotide variant Benign rs55806342 GRCh38 Chromosome 10, 51153260: 51153260
7 PRKG1 NM_001098512.2(PRKG1): c.530G> A (p.Arg177Gln) single nucleotide variant Pathogenic rs397515330 GRCh37 Chromosome 10, 53227579: 53227579
8 PRKG1 NM_001098512.2(PRKG1): c.530G> A (p.Arg177Gln) single nucleotide variant Pathogenic rs397515330 GRCh38 Chromosome 10, 51467819: 51467819
9 PRKG1 NM_006258.4(PRKG1): c.1409C> T (p.Ser470Leu) single nucleotide variant Uncertain significance rs267602521 GRCh38 Chromosome 10, 52280794: 52280794
10 PRKG1 NM_006258.4(PRKG1): c.1409C> T (p.Ser470Leu) single nucleotide variant Uncertain significance rs267602521 GRCh37 Chromosome 10, 54040554: 54040554
11 PRKG1 NM_006258.4(PRKG1): c.1409C> T (p.Ser470Leu) single nucleotide variant Uncertain significance rs267602521 NCBI36 Chromosome 10, 53710560: 53710560
12 PRKG1 NM_006258.4(PRKG1): c.39G> A (p.Glu13=) single nucleotide variant Likely benign rs878854901 GRCh37 Chromosome 10, 52834389: 52834389
13 PRKG1 NM_006258.4(PRKG1): c.39G> A (p.Glu13=) single nucleotide variant Likely benign rs878854901 GRCh38 Chromosome 10, 51074629: 51074629
14 PRKG1 NM_006258.4(PRKG1): c.426C> T (p.Asp142=) single nucleotide variant Benign/Likely benign rs55754654 GRCh37 Chromosome 10, 52913038: 52913038
15 PRKG1 NM_006258.4(PRKG1): c.426C> T (p.Asp142=) single nucleotide variant Benign/Likely benign rs55754654 GRCh38 Chromosome 10, 51153278: 51153278
16 PRKG1 NM_006258.4(PRKG1): c.1071A> G (p.Lys357=) single nucleotide variant Benign/Likely benign rs75650199 GRCh37 Chromosome 10, 53921718: 53921718
17 PRKG1 NM_006258.4(PRKG1): c.1071A> G (p.Lys357=) single nucleotide variant Benign/Likely benign rs75650199 GRCh38 Chromosome 10, 52161958: 52161958
18 PRKG1 NM_006258.4(PRKG1): c.1080T> C (p.Tyr360=) single nucleotide variant Benign rs141218982 GRCh37 Chromosome 10, 54011333: 54011333
19 PRKG1 NM_006258.4(PRKG1): c.1080T> C (p.Tyr360=) single nucleotide variant Benign rs141218982 GRCh38 Chromosome 10, 52251573: 52251573
20 PRKG1 NM_006258.4(PRKG1): c.1174-9T> G single nucleotide variant Likely benign rs372515971 GRCh37 Chromosome 10, 54031101: 54031101
21 PRKG1 NM_006258.4(PRKG1): c.1174-9T> G single nucleotide variant Likely benign rs372515971 GRCh38 Chromosome 10, 52271341: 52271341
22 PRKG1 NM_006258.4(PRKG1): c.888T> C (p.Leu296=) single nucleotide variant Benign rs113994747 GRCh37 Chromosome 10, 53822344: 53822344
23 PRKG1 NM_006258.4(PRKG1): c.888T> C (p.Leu296=) single nucleotide variant Benign rs113994747 GRCh38 Chromosome 10, 52062584: 52062584
24 PRKG1 NM_006258.4(PRKG1): c.1008T> C (p.Phe336=) single nucleotide variant Benign rs56047641 GRCh37 Chromosome 10, 53921655: 53921655
25 PRKG1 NM_006258.4(PRKG1): c.1008T> C (p.Phe336=) single nucleotide variant Benign rs56047641 GRCh38 Chromosome 10, 52161895: 52161895
26 PRKG1 NM_006258.4(PRKG1): c.1299C> T (p.Ser433=) single nucleotide variant Benign/Likely benign rs145035655 GRCh37 Chromosome 10, 54031235: 54031235
27 PRKG1 NM_006258.4(PRKG1): c.1299C> T (p.Ser433=) single nucleotide variant Benign/Likely benign rs145035655 GRCh38 Chromosome 10, 52271475: 52271475
28 PRKG1 NM_006258.4(PRKG1): c.906A> C (p.Gly302=) single nucleotide variant Benign/Likely benign rs145917628 GRCh37 Chromosome 10, 53822362: 53822362
29 PRKG1 NM_006258.4(PRKG1): c.906A> C (p.Gly302=) single nucleotide variant Benign/Likely benign rs145917628 GRCh38 Chromosome 10, 52062602: 52062602
30 PRKG1 NM_006258.4(PRKG1): c.479-9C> T single nucleotide variant Benign rs45615337 GRCh38 Chromosome 10, 51467714: 51467714
31 PRKG1 NM_006258.4(PRKG1): c.479-9C> T single nucleotide variant Benign rs45615337 GRCh37 Chromosome 10, 53227474: 53227474
32 PRKG1 NM_006258.4(PRKG1): c.845A> G (p.Asn282Ser) single nucleotide variant Benign rs34997494 GRCh38 Chromosome 10, 52062541: 52062541
33 PRKG1 NM_006258.4(PRKG1): c.845A> G (p.Asn282Ser) single nucleotide variant Benign rs34997494 GRCh37 Chromosome 10, 53822301: 53822301
34 PRKG1 NM_006258.4(PRKG1): c.30G> A (p.Ala10=) single nucleotide variant Likely benign rs768867882 GRCh37 Chromosome 10, 52834380: 52834380
35 PRKG1 NM_006258.4(PRKG1): c.30G> A (p.Ala10=) single nucleotide variant Likely benign rs768867882 GRCh38 Chromosome 10, 51074620: 51074620
36 PRKG1 NM_006258.4(PRKG1): c.1017G> A (p.Leu339=) single nucleotide variant Benign/Likely benign rs187636159 GRCh37 Chromosome 10, 53921664: 53921664
37 PRKG1 NM_006258.4(PRKG1): c.1017G> A (p.Leu339=) single nucleotide variant Benign/Likely benign rs187636159 GRCh38 Chromosome 10, 52161904: 52161904
38 PRKG1 NM_006258.4(PRKG1): c.1228C> T (p.Arg410Cys) single nucleotide variant Uncertain significance rs377519440 GRCh38 Chromosome 10, 52271404: 52271404
39 PRKG1 NM_006258.4(PRKG1): c.1228C> T (p.Arg410Cys) single nucleotide variant Uncertain significance rs377519440 GRCh37 Chromosome 10, 54031164: 54031164
40 PRKG1 NM_006258.4(PRKG1): c.1525C> T (p.His509Tyr) single nucleotide variant Benign rs139646798 GRCh38 Chromosome 10, 52280910: 52280910
41 PRKG1 NM_006258.4(PRKG1): c.1525C> T (p.His509Tyr) single nucleotide variant Benign rs139646798 GRCh37 Chromosome 10, 54040670: 54040670
42 PRKG1 NM_006258.4(PRKG1): c.585C> T (p.Thr195=) single nucleotide variant Likely benign rs139104275 GRCh37 Chromosome 10, 53227589: 53227589
43 PRKG1 NM_006258.4(PRKG1): c.585C> T (p.Thr195=) single nucleotide variant Likely benign rs139104275 GRCh38 Chromosome 10, 51467829: 51467829
44 PRKG1 NM_006258.4(PRKG1): c.1002-9G> A single nucleotide variant Benign/Likely benign rs200218082 GRCh37 Chromosome 10, 53921640: 53921640
45 PRKG1 NM_006258.4(PRKG1): c.1002-9G> A single nucleotide variant Benign/Likely benign rs200218082 GRCh38 Chromosome 10, 52161880: 52161880
46 PRKG1 NM_006258.4(PRKG1): c.1466A> G (p.Tyr489Cys) single nucleotide variant Uncertain significance rs149710600 GRCh37 Chromosome 10, 54040611: 54040611
47 PRKG1 NM_006258.4(PRKG1): c.1466A> G (p.Tyr489Cys) single nucleotide variant Uncertain significance rs149710600 GRCh38 Chromosome 10, 52280851: 52280851
48 PRKG1 NM_006258.4(PRKG1): c.1598T> C (p.Phe533Ser) single nucleotide variant Uncertain significance rs1060501403 GRCh37 Chromosome 10, 54041965: 54041965
49 PRKG1 NM_006258.4(PRKG1): c.1598T> C (p.Phe533Ser) single nucleotide variant Uncertain significance rs1060501403 GRCh38 Chromosome 10, 52282205: 52282205
50 PRKG1 NM_006258.3(PRKG1): c.395A> G (p.Asp132Gly) single nucleotide variant Uncertain significance rs140871298 GRCh37 Chromosome 10, 52913007: 52913007

Expression for Aortic Aneurysm, Familial Thoracic 8

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Pathways for Aortic Aneurysm, Familial Thoracic 8

GO Terms for Aortic Aneurysm, Familial Thoracic 8

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