MCID: ART107
MIFTS: 17

Aortic Aneurysm, Familial Thoracic 8

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 8

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 8:

Name: Aortic Aneurysm, Familial Thoracic 8 57 75 29 6 73
Aat8 57 75
Aneurysm, Aortic, Thoracic, Familial, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
aortic dissection may occur in second decade of life


HPO:

32
aortic aneurysm, familial thoracic 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615436
MeSH 44 D017545
SNOMED-CT via HPO 69 263681008 433068007
UMLS 73 C3809513

Summaries for Aortic Aneurysm, Familial Thoracic 8

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
aneurysm of interatrial septum (in some patients)

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

Clinical features from OMIM:

615436

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 8:

32
# Description HPO Frequency HPO Source Accession
1 abdominal aortic aneurysm 32 occasional (7.5%) HP:0005112
2 coronary artery dissection 32 occasional (7.5%) HP:0006702
3 thoracic aortic aneurysm 32 HP:0012727
4 coronary artery aneurysm 32 occasional (7.5%) HP:0030882

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 29 PRKG1

Anatomical Context for Aortic Aneurysm, Familial Thoracic 8

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

41
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:

75
# 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 98)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKG1 NM_001098512.2(PRKG1): c.530G> A (p.Arg177Gln) single nucleotide variant Pathogenic rs397515330 GRCh37 Chromosome 10, 53227579: 53227579
2 PRKG1 NM_001098512.2(PRKG1): c.530G> A (p.Arg177Gln) single nucleotide variant Pathogenic rs397515330 GRCh38 Chromosome 10, 51467819: 51467819
3 PRKG1 NM_001098512.2(PRKG1): c.1421A> T (p.Tyr474Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149710600 GRCh37 Chromosome 10, 54040611: 54040611
4 PRKG1 NM_001098512.2(PRKG1): c.1421A> T (p.Tyr474Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149710600 GRCh38 Chromosome 10, 52280851: 52280851
5 PRKG1 NM_001098512.2(PRKG1): c.1997G> C (p.Gly666Ala) single nucleotide variant Uncertain significance rs750949508 GRCh37 Chromosome 10, 54053641: 54053641
6 PRKG1 NM_001098512.2(PRKG1): c.1997G> C (p.Gly666Ala) single nucleotide variant Uncertain significance rs750949508 GRCh38 Chromosome 10, 52293881: 52293881
7 PRKG1 NM_006258.3(PRKG1): c.408G> A (p.Pro136=) single nucleotide variant Benign rs55806342 GRCh37 Chromosome 10, 52913020: 52913020
8 PRKG1 NM_006258.3(PRKG1): c.408G> A (p.Pro136=) single nucleotide variant Benign rs55806342 GRCh38 Chromosome 10, 51153260: 51153260
9 PRKG1 NM_006258.3(PRKG1): c.39G> A (p.Glu13=) single nucleotide variant Likely benign rs878854901 GRCh37 Chromosome 10, 52834389: 52834389
10 PRKG1 NM_006258.3(PRKG1): c.39G> A (p.Glu13=) single nucleotide variant Likely benign rs878854901 GRCh38 Chromosome 10, 51074629: 51074629
11 PRKG1 NM_006258.3(PRKG1): c.426C> T (p.Asp142=) single nucleotide variant Benign/Likely benign rs55754654 GRCh37 Chromosome 10, 52913038: 52913038
12 PRKG1 NM_006258.3(PRKG1): c.426C> T (p.Asp142=) single nucleotide variant Benign/Likely benign rs55754654 GRCh38 Chromosome 10, 51153278: 51153278
13 PRKG1 NM_006258.3(PRKG1): c.1071A> G (p.Lys357=) single nucleotide variant Benign/Likely benign rs75650199 GRCh37 Chromosome 10, 53921718: 53921718
14 PRKG1 NM_006258.3(PRKG1): c.1071A> G (p.Lys357=) single nucleotide variant Benign/Likely benign rs75650199 GRCh38 Chromosome 10, 52161958: 52161958
15 PRKG1 NM_006258.3(PRKG1): c.1080T> C (p.Tyr360=) single nucleotide variant Benign rs141218982 GRCh37 Chromosome 10, 54011333: 54011333
16 PRKG1 NM_006258.3(PRKG1): c.1080T> C (p.Tyr360=) single nucleotide variant Benign rs141218982 GRCh38 Chromosome 10, 52251573: 52251573
17 PRKG1 NM_006258.3(PRKG1): c.1174-9T> G single nucleotide variant Likely benign rs372515971 GRCh37 Chromosome 10, 54031101: 54031101
18 PRKG1 NM_006258.3(PRKG1): c.1174-9T> G single nucleotide variant Likely benign rs372515971 GRCh38 Chromosome 10, 52271341: 52271341
19 PRKG1 NM_006258.3(PRKG1): c.888T> C (p.Leu296=) single nucleotide variant Benign rs113994747 GRCh37 Chromosome 10, 53822344: 53822344
20 PRKG1 NM_006258.3(PRKG1): c.888T> C (p.Leu296=) single nucleotide variant Benign rs113994747 GRCh38 Chromosome 10, 52062584: 52062584
21 PRKG1 NM_006258.3(PRKG1): c.1008T> C (p.Phe336=) single nucleotide variant Benign rs56047641 GRCh37 Chromosome 10, 53921655: 53921655
22 PRKG1 NM_006258.3(PRKG1): c.1008T> C (p.Phe336=) single nucleotide variant Benign rs56047641 GRCh38 Chromosome 10, 52161895: 52161895
23 PRKG1 NM_006258.3(PRKG1): c.1299C> T (p.Ser433=) single nucleotide variant Benign/Likely benign rs145035655 GRCh37 Chromosome 10, 54031235: 54031235
24 PRKG1 NM_006258.3(PRKG1): c.1299C> T (p.Ser433=) single nucleotide variant Benign/Likely benign rs145035655 GRCh38 Chromosome 10, 52271475: 52271475
25 PRKG1 NM_006258.3(PRKG1): c.906A> C (p.Gly302=) single nucleotide variant Benign/Likely benign rs145917628 GRCh37 Chromosome 10, 53822362: 53822362
26 PRKG1 NM_006258.3(PRKG1): c.906A> C (p.Gly302=) single nucleotide variant Benign/Likely benign rs145917628 GRCh38 Chromosome 10, 52062602: 52062602
27 PRKG1 NM_006258.3(PRKG1): c.479-9C> T single nucleotide variant Benign rs45615337 GRCh37 Chromosome 10, 53227474: 53227474
28 PRKG1 NM_006258.3(PRKG1): c.479-9C> T single nucleotide variant Benign rs45615337 GRCh38 Chromosome 10, 51467714: 51467714
29 PRKG1 NM_006258.3(PRKG1): c.845A> G (p.Asn282Ser) single nucleotide variant Benign rs34997494 GRCh37 Chromosome 10, 53822301: 53822301
30 PRKG1 NM_006258.3(PRKG1): c.845A> G (p.Asn282Ser) single nucleotide variant Benign rs34997494 GRCh38 Chromosome 10, 52062541: 52062541
31 PRKG1 NM_006258.3(PRKG1): c.30G> A (p.Ala10=) single nucleotide variant Likely benign rs768867882 GRCh37 Chromosome 10, 52834380: 52834380
32 PRKG1 NM_006258.3(PRKG1): c.30G> A (p.Ala10=) single nucleotide variant Likely benign rs768867882 GRCh38 Chromosome 10, 51074620: 51074620
33 PRKG1 NM_006258.3(PRKG1): c.1017G> A (p.Leu339=) single nucleotide variant Benign/Likely benign rs187636159 GRCh37 Chromosome 10, 53921664: 53921664
34 PRKG1 NM_006258.3(PRKG1): c.1017G> A (p.Leu339=) single nucleotide variant Benign/Likely benign rs187636159 GRCh38 Chromosome 10, 52161904: 52161904
35 PRKG1 NM_006258.3(PRKG1): c.1228C> T (p.Arg410Cys) single nucleotide variant Uncertain significance rs377519440 GRCh38 Chromosome 10, 52271404: 52271404
36 PRKG1 NM_006258.3(PRKG1): c.1228C> T (p.Arg410Cys) single nucleotide variant Uncertain significance rs377519440 GRCh37 Chromosome 10, 54031164: 54031164
37 PRKG1 NM_006258.3(PRKG1): c.1525C> T (p.His509Tyr) single nucleotide variant Benign rs139646798 GRCh38 Chromosome 10, 52280910: 52280910
38 PRKG1 NM_006258.3(PRKG1): c.1525C> T (p.His509Tyr) single nucleotide variant Benign rs139646798 GRCh37 Chromosome 10, 54040670: 54040670
39 PRKG1 NM_006258.3(PRKG1): c.585C> T (p.Thr195=) single nucleotide variant Likely benign rs139104275 GRCh37 Chromosome 10, 53227589: 53227589
40 PRKG1 NM_006258.3(PRKG1): c.585C> T (p.Thr195=) single nucleotide variant Likely benign rs139104275 GRCh38 Chromosome 10, 51467829: 51467829
41 PRKG1 NM_006258.3(PRKG1): c.1002-9G> A single nucleotide variant Benign/Likely benign rs200218082 GRCh37 Chromosome 10, 53921640: 53921640
42 PRKG1 NM_006258.3(PRKG1): c.1002-9G> A single nucleotide variant Benign/Likely benign rs200218082 GRCh38 Chromosome 10, 52161880: 52161880
43 PRKG1 NM_006258.3(PRKG1): c.1466A> G (p.Tyr489Cys) single nucleotide variant Uncertain significance rs149710600 GRCh37 Chromosome 10, 54040611: 54040611
44 PRKG1 NM_006258.3(PRKG1): c.1466A> G (p.Tyr489Cys) single nucleotide variant Uncertain significance rs149710600 GRCh38 Chromosome 10, 52280851: 52280851
45 PRKG1 NM_006258.3(PRKG1): c.1598T> C (p.Phe533Ser) single nucleotide variant Uncertain significance rs1060501403 GRCh37 Chromosome 10, 54041965: 54041965
46 PRKG1 NM_006258.3(PRKG1): c.1598T> C (p.Phe533Ser) single nucleotide variant Uncertain significance rs1060501403 GRCh38 Chromosome 10, 52282205: 52282205
47 PRKG1 NM_006258.3(PRKG1): c.395A> G (p.Asp132Gly) single nucleotide variant Uncertain significance rs140871298 GRCh37 Chromosome 10, 52913007: 52913007
48 PRKG1 NM_006258.3(PRKG1): c.395A> G (p.Asp132Gly) single nucleotide variant Uncertain significance rs140871298 GRCh38 Chromosome 10, 51153247: 51153247
49 PRKG1 NM_006258.3(PRKG1): c.421A> C (p.Lys141Gln) single nucleotide variant Uncertain significance rs761759814 GRCh37 Chromosome 10, 52913033: 52913033
50 PRKG1 NM_006258.3(PRKG1): c.421A> C (p.Lys141Gln) single nucleotide variant Uncertain significance rs761759814 GRCh38 Chromosome 10, 51153273: 51153273

Expression for Aortic Aneurysm, Familial Thoracic 8

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 8.

Pathways for Aortic Aneurysm, Familial Thoracic 8

GO Terms for Aortic Aneurysm, Familial Thoracic 8

Sources for Aortic Aneurysm, Familial Thoracic 8

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....