AAT7
MCID: ART105
MIFTS: 19

Aortic Aneurysm, Familial Thoracic 7 (AAT7)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 7

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 7:

Name: Aortic Aneurysm, Familial Thoracic 7 58 76 30 13 6 74
Aat7 58 76
Aortic Dissection, Familial, with or Without Aortic Aneurysm 58
Aortic Dissection Familial with or Without Aortic Aneurysm 76
Aneurysm, Aortic, Thoracic, Familial, Type 7 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
patients develop aortic dissection with little or no aortic enlargement


HPO:

33
aortic aneurysm, familial thoracic 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613780
MeSH 45 D017545
MedGen 43 C3151077
SNOMED-CT via HPO 70 263681008 308546005 67362008
UMLS 74 C3151077

Summaries for Aortic Aneurysm, Familial Thoracic 7

UniProtKB/Swiss-Prot : 76 Aortic aneurysm, familial thoracic 7: 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 7, also known as aat7, is related to aortic aneurysm, familial thoracic 6. An important gene associated with Aortic Aneurysm, Familial Thoracic 7 is MYLK (Myosin Light Chain Kinase). Affiliated tissues include smooth muscle, and related phenotypes are aortic dissection and aortic aneurysm

Description from OMIM: 613780

Related Diseases for Aortic Aneurysm, Familial Thoracic 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 6 9.6 LOC105369194 MYLK

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 7

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 7:

33
# Description HPO Frequency HPO Source Accession
1 aortic dissection 33 HP:0002647
2 aortic aneurysm 33 HP:0004942

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
aortic dissection
aortic aneurysm

Clinical features from OMIM:

613780

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 7

Search Clinical Trials , NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 7

Genetic Tests for Aortic Aneurysm, Familial Thoracic 7

Genetic tests related to Aortic Aneurysm, Familial Thoracic 7:

# Genetic test Affiliating Genes
1 Aortic Aneurysm, Familial Thoracic 7 30 MYLK

Anatomical Context for Aortic Aneurysm, Familial Thoracic 7

MalaCards organs/tissues related to Aortic Aneurysm, Familial Thoracic 7:

42
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 7

Variations for Aortic Aneurysm, Familial Thoracic 7

UniProtKB/Swiss-Prot genetic disease variations for Aortic Aneurysm, Familial Thoracic 7:

76
# Symbol AA change Variation ID SNP ID
1 MYLK p.Ala1754Thr VAR_065576
2 MYLK p.Ser1759Pro VAR_065577 rs387906781

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 7:

6 (show top 50) (show all 612)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYLK NM_053025.3(MYLK): c.984G> A (p.Ser328=) single nucleotide variant Benign rs115018449 GRCh37 Chromosome 3, 123452859: 123452859
2 MYLK NM_053025.3(MYLK): c.984G> A (p.Ser328=) single nucleotide variant Benign rs115018449 GRCh38 Chromosome 3, 123734012: 123734012
3 MYLK NM_053025.3(MYLK): c.1007C> T (p.Pro336Leu) single nucleotide variant Benign/Likely benign rs35912339 GRCh37 Chromosome 3, 123452836: 123452836
4 MYLK NM_053025.3(MYLK): c.1007C> T (p.Pro336Leu) single nucleotide variant Benign/Likely benign rs35912339 GRCh38 Chromosome 3, 123733989: 123733989
5 MYLK NM_053025.3(MYLK): c.2120A> G (p.Gln707Arg) single nucleotide variant Uncertain significance rs201615936 GRCh37 Chromosome 3, 123427565: 123427565
6 MYLK NM_053025.3(MYLK): c.2120A> G (p.Gln707Arg) single nucleotide variant Uncertain significance rs201615936 GRCh38 Chromosome 3, 123708718: 123708718
7 MYLK NM_053025.3(MYLK): c.3402C> T (p.Asn1134=) single nucleotide variant Benign/Likely benign rs865358 GRCh37 Chromosome 3, 123418913: 123418913
8 MYLK NM_053025.3(MYLK): c.3402C> T (p.Asn1134=) single nucleotide variant Benign/Likely benign rs865358 GRCh38 Chromosome 3, 123700066: 123700066
9 MYLK NM_053025.3(MYLK): c.4764G> A (p.Pro1588=) single nucleotide variant Benign/Likely benign rs56056823 GRCh37 Chromosome 3, 123359207: 123359207
10 MYLK NM_053025.3(MYLK): c.4764G> A (p.Pro1588=) single nucleotide variant Benign/Likely benign rs56056823 GRCh38 Chromosome 3, 123640360: 123640360
11 MYLK NM_053025.3(MYLK): c.571C> G (p.Gln191Glu) single nucleotide variant Uncertain significance rs794727880 GRCh37 Chromosome 3, 123457761: 123457761
12 MYLK NM_053025.3(MYLK): c.571C> G (p.Gln191Glu) single nucleotide variant Uncertain significance rs794727880 GRCh38 Chromosome 3, 123738914: 123738914
13 MYLK NM_053025.3(MYLK): c.439C> T (p.Pro147Ser) single nucleotide variant Benign/Likely benign rs9840993 GRCh37 Chromosome 3, 123457893: 123457893
14 MYLK NM_053025.3(MYLK): c.439C> T (p.Pro147Ser) single nucleotide variant Benign/Likely benign rs9840993 GRCh38 Chromosome 3, 123739046: 123739046
15 MYLK NM_053025.3(MYLK): c.2149G> T (p.Asp717Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs150936840 GRCh37 Chromosome 3, 123426842: 123426842
16 MYLK NM_053025.3(MYLK): c.2149G> T (p.Asp717Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs150936840 GRCh38 Chromosome 3, 123707995: 123707995
17 MYLK NM_053025.3(MYLK): c.3438C> T (p.Leu1146=) single nucleotide variant Likely benign rs146320279 GRCh37 Chromosome 3, 123418877: 123418877
18 MYLK NM_053025.3(MYLK): c.3438C> T (p.Leu1146=) single nucleotide variant Likely benign rs146320279 GRCh38 Chromosome 3, 123700030: 123700030
19 MYLK NM_053025.3(MYLK): c.2919G> A (p.Pro973=) single nucleotide variant Conflicting interpretations of pathogenicity rs149482336 GRCh37 Chromosome 3, 123419396: 123419396
20 MYLK NM_053025.3(MYLK): c.2919G> A (p.Pro973=) single nucleotide variant Conflicting interpretations of pathogenicity rs149482336 GRCh38 Chromosome 3, 123700549: 123700549
21 MYLK NM_053025.3(MYLK): c.957G> A (p.Glu319=) single nucleotide variant Likely benign rs864622770 GRCh37 Chromosome 3, 123452886: 123452886
22 MYLK NM_053025.3(MYLK): c.957G> A (p.Glu319=) single nucleotide variant Likely benign rs864622770 GRCh38 Chromosome 3, 123734039: 123734039
23 MYLK NM_053025.3(MYLK): c.5275T> C (p.Ser1759Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906781 GRCh37 Chromosome 3, 123339147: 123339147
24 MYLK NM_053025.3(MYLK): c.5275T> C (p.Ser1759Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906781 GRCh38 Chromosome 3, 123620300: 123620300
25 MYLK NM_053025.3(MYLK): c.4438C> T (p.Arg1480Ter) single nucleotide variant Pathogenic rs387906782 GRCh37 Chromosome 3, 123366252: 123366252
26 MYLK NM_053025.3(MYLK): c.4438C> T (p.Arg1480Ter) single nucleotide variant Pathogenic rs387906782 GRCh38 Chromosome 3, 123647405: 123647405
27 MYLK NM_053025.3(MYLK): c.4292C> T (p.Pro1431Leu) single nucleotide variant Uncertain significance rs746690413 GRCh37 Chromosome 3, 123368038: 123368038
28 MYLK NM_053025.3(MYLK): c.4292C> T (p.Pro1431Leu) single nucleotide variant Uncertain significance rs746690413 GRCh38 Chromosome 3, 123649191: 123649191
29 MYLK NM_053025.3(MYLK): c.2533C> T (p.Arg845Cys) single nucleotide variant Benign/Likely benign rs3732485 GRCh38 Chromosome 3, 123700935: 123700935
30 MYLK NM_053025.3(MYLK): c.2533C> T (p.Arg845Cys) single nucleotide variant Benign/Likely benign rs3732485 GRCh37 Chromosome 3, 123419782: 123419782
31 MYLK NM_053025.3(MYLK): c.5079G> A (p.Lys1693=) single nucleotide variant Benign rs141467675 GRCh37 Chromosome 3, 123348356: 123348356
32 MYLK NM_053025.3(MYLK): c.5079G> A (p.Lys1693=) single nucleotide variant Benign rs141467675 GRCh38 Chromosome 3, 123629509: 123629509
33 MYLK NM_053025.3(MYLK): c.4620-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs113607507 GRCh37 Chromosome 3, 123359357: 123359357
34 MYLK NM_053025.3(MYLK): c.4620-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs113607507 GRCh38 Chromosome 3, 123640510: 123640510
35 MYLK NM_053025.3(MYLK): c.4289-3dupC duplication Benign/Likely benign rs41431347 GRCh37 Chromosome 3, 123368044: 123368044
36 MYLK NM_053025.3(MYLK): c.4289-3dupC duplication Benign/Likely benign rs41431347 GRCh38 Chromosome 3, 123649197: 123649197
37 MYLK NM_053025.3(MYLK): c.4289-4C> G single nucleotide variant Benign/Likely benign rs376670657 GRCh37 Chromosome 3, 123368045: 123368045
38 MYLK NM_053025.3(MYLK): c.4289-4C> G single nucleotide variant Benign/Likely benign rs376670657 GRCh38 Chromosome 3, 123649198: 123649198
39 MYLK NM_053025.3(MYLK): c.4194C> T (p.His1398=) single nucleotide variant Benign/Likely benign rs17298941 GRCh37 Chromosome 3, 123376067: 123376067
40 MYLK NM_053025.3(MYLK): c.4194C> T (p.His1398=) single nucleotide variant Benign/Likely benign rs17298941 GRCh38 Chromosome 3, 123657220: 123657220
41 MYLK NM_053025.3(MYLK): c.3832-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs185681684 GRCh37 Chromosome 3, 123383111: 123383111
42 MYLK NM_053025.3(MYLK): c.3832-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs185681684 GRCh38 Chromosome 3, 123664264: 123664264
43 MYLK NM_053025.3(MYLK): c.3558C> T (p.Thr1186=) single nucleotide variant Benign/Likely benign rs40305 GRCh38 Chromosome 3, 123692742: 123692742
44 MYLK NM_053025.3(MYLK): c.3558C> T (p.Thr1186=) single nucleotide variant Benign/Likely benign rs40305 GRCh37 Chromosome 3, 123411589: 123411589
45 MYLK NM_053025.3(MYLK): c.3525C> T (p.Asp1175=) single nucleotide variant Conflicting interpretations of pathogenicity rs147735490 GRCh37 Chromosome 3, 123411622: 123411622
46 MYLK NM_053025.3(MYLK): c.3525C> T (p.Asp1175=) single nucleotide variant Conflicting interpretations of pathogenicity rs147735490 GRCh38 Chromosome 3, 123692775: 123692775
47 MYLK NM_053025.3(MYLK): c.3253A> G (p.Thr1085Ala) single nucleotide variant Benign/Likely benign rs75370906 GRCh37 Chromosome 3, 123419062: 123419062
48 MYLK NM_053025.3(MYLK): c.3253A> G (p.Thr1085Ala) single nucleotide variant Benign/Likely benign rs75370906 GRCh38 Chromosome 3, 123700215: 123700215
49 MYLK NM_053025.3(MYLK): c.3075C> T (p.Pro1025=) single nucleotide variant Benign rs144885184 GRCh37 Chromosome 3, 123419240: 123419240
50 MYLK NM_053025.3(MYLK): c.3075C> T (p.Pro1025=) single nucleotide variant Benign rs144885184 GRCh38 Chromosome 3, 123700393: 123700393

Expression for Aortic Aneurysm, Familial Thoracic 7

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Pathways for Aortic Aneurysm, Familial Thoracic 7

GO Terms for Aortic Aneurysm, Familial Thoracic 7

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