AAT8
MCID: ART107
MIFTS: 27

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 57 74 29 6 72
Aat8 57 74
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:

MeSH 44 D017545
UMLS 72 C3809513

Summaries for Aortic Aneurysm, Familial Thoracic 8

UniProtKB/Swiss-Prot : 74 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). The drugs Zinc and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, and related phenotypes are abdominal aortic aneurysm and coronary artery dissection

More information from OMIM: 615436 PS607086

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:

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 coronary artery aneurysm 32 occasional (7.5%) HP:0030882
4 aortic dissection 32 HP:0002647
5 thoracic aortic aneurysm 32 HP:0012727

Symptoms via clinical synopsis from OMIM:

57
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

Drugs for Aortic Aneurysm, Familial Thoracic 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational 7440-66-6 32051
2
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
3 Immunologic Factors
4 Vitamins
5 Retinol palmitate
6 retinol
7 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Observational Study to Evaluate Causes of Rotavirus Vaccine Failure in Zambian Children in the Context of Routine Immunization Services Completed NCT01886833

Search 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

Articles related to Aortic Aneurysm, Familial Thoracic 8:

# Title Authors PMID Year
1
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 8 71
23910461 2013
2
Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women. 8 71
16646045 2006
3
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 71
25173340 2014
4
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 71
24882528 2014
5
Mutations in myosin light chain kinase cause familial aortic dissections. 8
21055718 2010
6
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. 8
17666408 2007
7
Heritable Thoracic Aortic Disease Overview 71
20301299 2003
8
Nigerian rotavirus serotype G8 could not be typed by PCR due to nucleotide mutation at the 3' end of the primer binding site. 38
9672646 1997

Variations for Aortic Aneurysm, Familial Thoracic 8

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

6 (show top 50) (show all 65)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PRKG1 NM_006258.4(PRKG1): c.575G> A (p.Arg192Gln) single nucleotide variant Pathogenic rs397515330 10:53227579-53227579 10:51467819-51467819
2 PRKG1 NM_006258.4(PRKG1): c.1466A> T (p.Tyr489Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149710600 10:54040611-54040611 10:52280851-52280851
3 PRKG1 NM_006258.4(PRKG1): c.1174-7_1174-4del short repeat Conflicting interpretations of pathogenicity rs762325343 10:54031103-54031106 10:52271343-52271346
4 PRKG1 NM_006258.4(PRKG1): c.1937C> T (p.Thr646Ile) single nucleotide variant Uncertain significance rs1554824353 10:54050025-54050025 10:52290265-52290265
5 PRKG1 NM_006258.4(PRKG1): c.630A> G (p.Gln210=) single nucleotide variant Uncertain significance rs1345898109 10:53564382-53564382 10:51804622-51804622
6 PRKG1 NM_006258.4(PRKG1): c.449A> C (p.Asp150Ala) single nucleotide variant Uncertain significance rs775427696 10:52913061-52913061 10:51153301-51153301
7 PRKG1 NM_006258.4(PRKG1): c.1016T> C (p.Leu339Ser) single nucleotide variant Uncertain significance rs775720873 10:53921663-53921663 10:52161903-52161903
8 PRKG1 NM_006258.4(PRKG1): c.893C> T (p.Thr298Ile) single nucleotide variant Uncertain significance rs140716870 10:53822349-53822349 10:52062589-52062589
9 PRKG1 NM_006258.4(PRKG1): c.1229G> A (p.Arg410His) single nucleotide variant Uncertain significance rs201147665 10:54031165-54031165 10:52271405-52271405
10 PRKG1 NM_006258.4(PRKG1): c.1928G> A (p.Arg643Lys) single nucleotide variant Uncertain significance rs770812712 10:54050016-54050016 10:52290256-52290256
11 PRKG1 NM_006258.4(PRKG1): c.1228C> T (p.Arg410Cys) single nucleotide variant Uncertain significance rs377519440 10:54031164-54031164 10:52271404-52271404
12 PRKG1 NM_006258.4(PRKG1): c.1466A> G (p.Tyr489Cys) single nucleotide variant Uncertain significance rs149710600 10:54040611-54040611 10:52280851-52280851
13 PRKG1 NM_006258.4(PRKG1): c.1598T> C (p.Phe533Ser) single nucleotide variant Uncertain significance rs1060501403 10:54041965-54041965 10:52282205-52282205
14 PRKG1 NM_006258.4(PRKG1): c.395A> G (p.Asp132Gly) single nucleotide variant Uncertain significance rs140871298 10:52913007-52913007 10:51153247-51153247
15 PRKG1 NM_006258.4(PRKG1): c.421A> C (p.Lys141Gln) single nucleotide variant Uncertain significance rs761759814 10:52913033-52913033 10:51153273-51153273
16 PRKG1 NM_006258.4(PRKG1): c.820T> C (p.Phe274Leu) single nucleotide variant Uncertain significance rs1554797637 10:53814301-53814301 10:52054541-52054541
17 PRKG1 NM_006258.4(PRKG1): c.1576T> C (p.Phe526Leu) single nucleotide variant Uncertain significance rs74905373 10:54041943-54041943 10:52282183-52282183
18 PRKG1 NC_000010.10: g.(?_53921629)_(53921743_?)del deletion Uncertain significance 10:53921629-53921743 10:52161869-52161983
19 PRKG1 NM_006258.4(PRKG1): c.319G> C (p.Asp107His) single nucleotide variant Uncertain significance rs751916382 10:52912931-52912931 10:51153171-51153171
20 PRKG1 NM_006258.4(PRKG1): c.2042G> C (p.Gly681Ala) single nucleotide variant Uncertain significance rs750949508 10:54053641-54053641 10:52293881-52293881
21 PRKG1 NM_006258.4(PRKG1): c.1409C> T (p.Ser470Leu) single nucleotide variant Uncertain significance rs267602521 10:54040554-54040554 10:52280794-52280794
22 PRKG1 NM_006258.4(PRKG1): c.930G> T (p.Leu310Phe) single nucleotide variant Uncertain significance 10:53822386-53822386 10:52062626-52062626
23 PRKG1 NM_006258.4(PRKG1): c.2048A> T (p.Asp683Val) single nucleotide variant Uncertain significance 10:54053647-54053647 10:52293887-52293887
24 PRKG1 NM_006258.4(PRKG1): c.407C> T (p.Pro136Leu) single nucleotide variant Uncertain significance 10:52913019-52913019 10:51153259-51153259
25 PRKG1 NM_006258.4(PRKG1): c.1065A> C (p.Glu355Asp) single nucleotide variant Uncertain significance 10:53921712-53921712 10:52161952-52161952
26 PRKG1 NC_000010.10: g.(?_53893580)_(53921743_?)dup duplication Uncertain significance 10:53893580-53921743 10:52133820-52161983
27 PRKG1 NM_006258.4(PRKG1): c.470T> C (p.Val157Ala) single nucleotide variant Uncertain significance 10:52913082-52913082 10:51153322-51153322
28 PRKG1 NM_006258.4(PRKG1): c.1832+5G> A single nucleotide variant Uncertain significance 10:54048613-54048613 10:52288853-52288853
29 PRKG1 NM_006258.4(PRKG1): c.586G> A (p.Val196Ile) single nucleotide variant Uncertain significance 10:53227590-53227590 10:51467830-51467830
30 PRKG1 NM_006258.4(PRKG1): c.444_449dup (p.Glu148_Gly149dup) duplication Uncertain significance 10:52913052-52913053 10:51153296-51153301
31 PRKG1 NM_006258.4(PRKG1): c.839C> T (p.Thr280Met) single nucleotide variant Uncertain significance 10:53814320-53814320 10:52054560-52054560
32 PRKG1 NM_006258.4(PRKG1): c.1391T> C (p.Ile464Thr) single nucleotide variant Uncertain significance 10:54032229-54032229 10:52272469-52272469
33 PRKG1 NM_006258.4(PRKG1): c.1714C> A (p.Pro572Thr) single nucleotide variant Uncertain significance 10:54048490-54048490 10:52288730-52288730
34 PRKG1 NC_000010.10: g.(?_53893590)_(53921733_?)dup duplication Uncertain significance 10:53893590-53921733 10:52133830-52161973
35 PRKG1 NC_000010.10: g.(?_53814234)_(53814331_?)del deletion Uncertain significance 10:53814234-53814331 10:52054474-52054571
36 PRKG1 NM_006258.4(PRKG1): c.39G> A (p.Glu13=) single nucleotide variant Likely benign rs878854901 10:52834389-52834389 10:51074629-51074629
37 PRKG1 NM_006258.4(PRKG1): c.1174-9T> G single nucleotide variant Likely benign rs372515971 10:54031101-54031101 10:52271341-52271341
38 PRKG1 NM_006258.4(PRKG1): c.63G> A (p.Arg21=) single nucleotide variant Likely benign rs143805509 10:52834413-52834413 10:51074653-51074653
39 PRKG1 NM_006258.4(PRKG1): c.1845A> G (p.Ser615=) single nucleotide variant Likely benign rs1177160264 10:54048703-54048703 10:52288943-52288943
40 PRKG1 NM_006258.4(PRKG1): c.1092G> A (p.Ala364=) single nucleotide variant Likely benign rs373675576 10:54011345-54011345 10:52251585-52251585
41 PRKG1 NM_006258.4(PRKG1): c.585C> T (p.Thr195=) single nucleotide variant Likely benign rs139104275 10:53227589-53227589 10:51467829-51467829
42 PRKG1 NM_006258.4(PRKG1): c.30G> A (p.Ala10=) single nucleotide variant Likely benign rs768867882 10:52834380-52834380 10:51074620-51074620
43 PRKG1 NM_006258.4(PRKG1): c.15G> T (p.Arg5=) single nucleotide variant Likely benign rs148780812 10:52834365-52834365 10:51074605-51074605
44 PRKG1 NM_006258.4(PRKG1): c.195G> A (p.Ala65=) single nucleotide variant Likely benign rs1316840663 10:52834545-52834545 10:51074785-51074785
45 PRKG1 NM_006258.4(PRKG1): c.375G> A (p.Ser125=) single nucleotide variant Likely benign rs111805858 10:52912987-52912987 10:51153227-51153227
46 PRKG1 NM_006258.4(PRKG1): c.1929A> G (p.Arg643=) single nucleotide variant Likely benign rs1211745155 10:54050017-54050017 10:52290257-52290257
47 PRKG1 NM_006258.4(PRKG1): c.2014G> A (p.Asp672Asn) single nucleotide variant Likely benign rs142375882 10:54053613-54053613 10:52293853-52293853
48 PRKG1 NM_006258.4(PRKG1): c.478+10G> T single nucleotide variant Likely benign rs763995628 10:52913100-52913100 10:51153340-51153340
49 PRKG1 NM_006258.4(PRKG1): c.1546-7T> C single nucleotide variant Likely benign rs1436490223 10:54041906-54041906 10:52282146-52282146
50 PRKG1 NM_006258.4(PRKG1): c.1056A> G (p.Glu352=) single nucleotide variant Likely benign rs1554811684 10:53921703-53921703 10:52161943-52161943

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

74
# Symbol AA change Variation ID SNP ID
1 PRKG1 p.Arg177Gln VAR_070434 rs397515330

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

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