AAT8
MCID: ART107
MIFTS: 26

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 56 73 29 6 71
Aat8 56 73
Aneurysm, Aortic, Thoracic, Familial, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
aortic dissection may occur in second decade of life


HPO:

31
aortic aneurysm, familial thoracic 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 615436
OMIM Phenotypic Series 56 PS607086
MeSH 43 D017545
SNOMED-CT via HPO 68 263681008 308546005 433068007
UMLS 71 C3809513

Summaries for Aortic Aneurysm, Familial Thoracic 8

UniProtKB/Swiss-Prot : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 abdominal aortic aneurysm 31 occasional (7.5%) HP:0005112
2 coronary artery dissection 31 occasional (7.5%) HP:0006702
3 coronary artery aneurysm 31 occasional (7.5%) HP:0030882
4 aortic dissection 31 HP:0002647
5 thoracic aortic aneurysm 31 HP:0012727

Symptoms via clinical synopsis from OMIM:

56
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 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
3 Vaccines
4 Vitamins
5 retinol
6 Retinol palmitate
7 Immunologic Factors

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:

40
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. 56 6
23910461 2013
2
Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women. 56 6
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). 6
25173340 2014
4
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 6
24882528 2014
5
Mutations in myosin light chain kinase cause familial aortic dissections. 56
21055718 2010
6
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. 56
17666408 2007
7
Heritable Thoracic Aortic Disease Overview 6
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. 61
9672646 1997

Variations for Aortic Aneurysm, Familial Thoracic 8

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

6 (show all 44) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKG1 NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln)SNV Pathogenic 65477 rs397515330 10:53227579-53227579 10:51467819-51467819
2 PRKG1 NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe)SNV Conflicting interpretations of pathogenicity 210010 rs149710600 10:54040611-54040611 10:52280851-52280851
3 PRKG1 NM_006258.4(PRKG1):c.1174-7_1174-4delshort repeat Conflicting interpretations of pathogenicity 544064 rs762325343 10:54031098-54031101 10:52271338-52271341
4 PRKG1 NM_006258.4(PRKG1):c.1937C>T (p.Thr646Ile)SNV Uncertain significance 544058 rs1554824353 10:54050025-54050025 10:52290265-52290265
5 PRKG1 NM_006258.4(PRKG1):c.930G>T (p.Leu310Phe)SNV Uncertain significance 576433 rs1564452654 10:53822386-53822386 10:52062626-52062626
6 PRKG1 NM_006258.4(PRKG1):c.2048A>T (p.Asp683Val)SNV Uncertain significance 571114 rs1564549596 10:54053647-54053647 10:52293887-52293887
7 PRKG1 NM_006258.4(PRKG1):c.407C>T (p.Pro136Leu)SNV Uncertain significance 576784 rs1157867791 10:52913019-52913019 10:51153259-51153259
8 PRKG1 NM_006258.4(PRKG1):c.1065A>C (p.Glu355Asp)SNV Uncertain significance 571873 rs1564496116 10:53921712-53921712 10:52161952-52161952
9 PRKG1 NC_000010.10:g.(?_53893580)_(53921743_?)dupduplication Uncertain significance 584252 10:53893580-53921743 10:52133820-52161983
10 PRKG1 NM_006258.4(PRKG1):c.470T>C (p.Val157Ala)SNV Uncertain significance 580660 rs774143507 10:52913082-52913082 10:51153322-51153322
11 PRKG1 NM_006258.4(PRKG1):c.1832+5G>ASNV Uncertain significance 579725 rs752357283 10:54048613-54048613 10:52288853-52288853
12 PRKG1 NM_006258.4(PRKG1):c.586G>A (p.Val196Ile)SNV Uncertain significance 568910 rs777385159 10:53227590-53227590 10:51467830-51467830
13 PRKG1 NM_006258.4(PRKG1):c.444_449dup (p.Glu148_Gly149dup)duplication Uncertain significance 644970 10:52913052-52913053 10:51153292-51153293
14 PRKG1 NM_006258.4(PRKG1):c.839C>T (p.Thr280Met)SNV Uncertain significance 648390 10:53814320-53814320 10:52054560-52054560
15 PRKG1 NM_006258.4(PRKG1):c.1391T>C (p.Ile464Thr)SNV Uncertain significance 646864 10:54032229-54032229 10:52272469-52272469
16 PRKG1 NM_006258.4(PRKG1):c.1714C>A (p.Pro572Thr)SNV Uncertain significance 647122 10:54048490-54048490 10:52288730-52288730
17 PRKG1 NC_000010.10:g.(?_53893590)_(53921733_?)dupduplication Uncertain significance 662843 10:53893590-53921733 10:52133830-52161973
18 PRKG1 NC_000010.10:g.(?_53814234)_(53814331_?)deldeletion Uncertain significance 658993 10:53814234-53814331 10:52054474-52054571
19 PRKG1 NM_006258.4(PRKG1):c.2042G>C (p.Gly681Ala)SNV Uncertain significance 210009 rs750949508 10:54053641-54053641 10:52293881-52293881
20 PRKG1 NM_006258.4(PRKG1):c.1229G>A (p.Arg410His)SNV Uncertain significance 520141 rs201147665 10:54031165-54031165 10:52271405-52271405
21 PRKG1 NM_006258.4(PRKG1):c.1928G>A (p.Arg643Lys)SNV Uncertain significance 520133 rs770812712 10:54050016-54050016 10:52290256-52290256
22 PRKG1 NM_006258.4(PRKG1):c.1409C>T (p.Ser470Leu)SNV Uncertain significance 77987 rs267602521 10:54040554-54040554 10:52280794-52280794
23 PRKG1 NM_006258.4(PRKG1):c.1228C>T (p.Arg410Cys)SNV Uncertain significance 407091 rs377519440 10:54031164-54031164 10:52271404-52271404
24 PRKG1 NM_006258.4(PRKG1):c.1466A>G (p.Tyr489Cys)SNV Uncertain significance 407089 rs149710600 10:54040611-54040611 10:52280851-52280851
25 PRKG1 NM_006258.4(PRKG1):c.1598T>C (p.Phe533Ser)SNV Uncertain significance 407090 rs1060501403 10:54041965-54041965 10:52282205-52282205
26 PRKG1 NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly)SNV Uncertain significance 451745 rs140871298 10:52913007-52913007 10:51153247-51153247
27 PRKG1 NM_006258.4(PRKG1):c.820T>C (p.Phe274Leu)SNV Uncertain significance 477781 rs1554797637 10:53814301-53814301 10:52054541-52054541
28 PRKG1 NM_006258.4(PRKG1):c.1576T>C (p.Phe526Leu)SNV Uncertain significance 477773 rs74905373 10:54041943-54041943 10:52282183-52282183
29 PRKG1 NC_000010.10:g.(?_53921629)_(53921743_?)deldeletion Uncertain significance 477771 10:53921629-53921743 10:52161869-52161983
30 PRKG1 NM_006258.4(PRKG1):c.319G>C (p.Asp107His)SNV Uncertain significance 477777 rs751916382 10:52912931-52912931 10:51153171-51153171
31 PRKG1 NM_006258.4(PRKG1):c.630A>G (p.Gln210=)SNV Uncertain significance 544056 rs1345898109 10:53564382-53564382 10:51804622-51804622
32 PRKG1 NM_006258.4(PRKG1):c.449A>C (p.Asp150Ala)SNV Uncertain significance 544057 rs775427696 10:52913061-52913061 10:51153301-51153301
33 PRKG1 NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser)SNV Uncertain significance 544055 rs775720873 10:53921663-53921663 10:52161903-52161903
34 PRKG1 NM_006258.4(PRKG1):c.1546-7T>CSNV Likely benign 544063 rs1436490223 10:54041906-54041906 10:52282146-52282146
35 PRKG1 NM_006258.4(PRKG1):c.1056A>G (p.Glu352=)SNV Likely benign 544065 rs1554811684 10:53921703-53921703 10:52161943-52161943
36 PRKG1 NM_006258.4(PRKG1):c.1845A>G (p.Ser615=)SNV Likely benign 477774 rs1177160264 10:54048703-54048703 10:52288943-52288943
37 PRKG1 NM_006258.4(PRKG1):c.1929A>G (p.Arg643=)SNV Likely benign 477775 rs1211745155 10:54050017-54050017 10:52290257-52290257
38 PRKG1 NM_006258.4(PRKG1):c.478+10G>TSNV Likely benign 477779 rs763995628 10:52913100-52913100 10:51153340-51153340
39 PRKG1 NM_006258.4(PRKG1):c.63G>A (p.Arg21=)SNV Likely benign 520132 rs143805509 10:52834413-52834413 10:51074653-51074653
40 PRKG1 NM_006258.4(PRKG1):c.195G>A (p.Ala65=)SNV Likely benign 544059 rs1316840663 10:52834545-52834545 10:51074785-51074785
41 PRKG1 NM_006258.4(PRKG1):c.408G>A (p.Pro136=)SNV Benign 220801 rs55806342 10:52913020-52913020 10:51153260-51153260
42 PRKG1 NM_006258.4(PRKG1):c.1008T>C (p.Phe336=)SNV Benign 263888 rs56047641 10:53921655-53921655 10:52161895-52161895
43 PRKG1 NM_006258.4(PRKG1):c.479-9C>TSNV Benign 381780 rs45615337 10:53227474-53227474 10:51467714-51467714
44 PRKG1 NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser)SNV Benign 381196 rs34997494 10:53822301-53822301 10:52062541-52062541

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

73
# 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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