AAT4
MCID: ART028
MIFTS: 61

Aortic Aneurysm, Familial Thoracic 4 (AAT4)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 4

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 4:

Name: Aortic Aneurysm, Familial Thoracic 4 57 20 72 29 13 6 70
Aortic Aneurysm/aortic Dissection and Patent Ductus Arteriosus 57 20 72
Aat4 57 20 72
Faa4 57 20 72
Non-Syndromic Thoracic Aortic Aneurysms and Dissection 72
Aneurysm, Aortic, Thoracic, Familial, Type 4 39
Thoracic Aortic Aneurysms and Dissections 6
Thoracic Aortic Aneurysms and Dissection 72
Aneurysms, Aortic, Thoracic, Dissections 39
Familial Aortic Aneurysm 4 72
Taad 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
family history of sudden death, as early as fourth decade of life


HPO:

31
aortic aneurysm, familial thoracic 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 132900
OMIM Phenotypic Series 57 PS607086
MeSH 44 D017545
MedGen 41 C1851504
UMLS 70 C1851504

Summaries for Aortic Aneurysm, Familial Thoracic 4

UniProtKB/Swiss-Prot : 72 Aortic aneurysm, familial thoracic 4: 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 4, also known as aortic aneurysm/aortic dissection and patent ductus arteriosus, is related to loeys-dietz syndrome 2 and moyamoya disease 5. An important gene associated with Aortic Aneurysm, Familial Thoracic 4 is MYH11 (Myosin Heavy Chain 11), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Epinephrine and Cefazolin have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, bone and skin, and related phenotypes are ascending aortic dissection and stroke

More information from OMIM: 132900 PS607086

Related Diseases for Aortic Aneurysm, Familial Thoracic 4

Diseases in the Aortic Aneurysm, Familial Thoracic 4 family:

Aortic Aneurysm, Familial Thoracic 1 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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 2 32.1 TGFBR2 TGFBR1 MYH11 FBN1
2 moyamoya disease 5 30.7 ACTA2-AS1 ACTA2
3 meester-loeys syndrome 30.5 SLC2A10 BGN
4 aortic aneurysm, familial thoracic 2 30.4 SLC2A10 FBN1 COL3A1 ACTA2
5 moyamoya disease 1 30.1 MYH11 ACTA2-AS1 ACTA2
6 patent ductus arteriosus 1 30.1 TGFBR2 TGFBR1 SLC2A10 MYH11 FBN1 ACTA2
7 aortic aneurysm, familial abdominal, 1 30.0 TGFBR2 MYH11 LOX FBN1 COL3A1 ACTA2
8 hereditary hemorrhagic telangiectasia 29.7 TGFBR2 TGFBR1 TGFB2 COL5A1
9 inguinal hernia 29.6 LOX FBN1 COL5A1 COL1A1
10 loeys-dietz syndrome 4 29.6 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 FBN1
11 arterial tortuosity syndrome 29.5 TGFBR2 TGFBR1 TGFB2 SLC2A10 MYH11 FBN1
12 loeys-dietz syndrome 1 29.5 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
13 hypermobile ehlers-danlos syndrome 29.4 FBN1 COL5A2 COL5A1 COL1A1
14 loeys-dietz syndrome 3 29.2 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
15 aortic aneurysm, familial thoracic 6 29.0 TGFBR1 SMAD3 SLC2A10 NDE1 MYH11 FBN1
16 osteochondrodysplasia 28.8 FBN1 COL5A2 COL5A1 COL3A1 COL1A1 BGN
17 heritable thoracic aortic disease 28.8 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 LOX
18 aortic aneurysm, familial thoracic 1 28.4 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
19 ehlers-danlos syndrome 28.4 TGFBR1 FBN1 COL5A2 COL5A1 COL3A1 COL1A1
20 aortic disease 28.4 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 LOX
21 familial thoracic aortic aneurysm and aortic dissection 28.3 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 NDE1
22 aortic aneurysm 28.2 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 NDE1
23 loeys-dietz syndrome 28.0 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
24 aneurysm 27.7 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 NDE1
25 marfan syndrome 27.2 TGFBR2 TGFBR1 TGFB2 MYH11 LOX LOC113939944
26 aortic dissection 26.8 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 NDE1
27 dyskeratosis congenita 11.0
28 vascular disease 10.5
29 hypertelorism 10.3
30 aortic aneurysm, familial thoracic 9 10.3
31 47,xyy 10.3
32 lissencephaly 4 10.3 NDE1 MYH11
33 familial abdominal aortic aneurysm 10.3 FBN1 COL3A1
34 multisystemic smooth muscle dysfunction syndrome 10.3 ACTA2-AS1 ACTA2
35 marfanoid-progeroid-lipodystrophy syndrome 10.3 LOC113939944 FBN1
36 tricuspid valve insufficiency 10.2 NDE1 MYH11 FBN1
37 mitral valve insufficiency 10.2 NDE1 MYH11 FBN1
38 cerebral arterial disease 10.2 MYH11 COL3A1 ACTA2
39 cleft palate, isolated 10.2
40 holt-oram syndrome 10.2
41 shprintzen-goldberg craniosynostosis syndrome 10.2
42 asplenia, isolated congenital 10.2
43 dental anomalies and short stature 10.2
44 aortic aneurysm, familial thoracic 8 10.2
45 aortic aneurysm, familial thoracic 10 10.2
46 aortic aneurysm, familial thoracic 11 10.2
47 periventricular nodular heterotopia 10.2
48 isolated ectopia lentis 10.2
49 cardiac tamponade 10.2
50 telangiectasis 10.2

Graphical network of the top 20 diseases related to Aortic Aneurysm, Familial Thoracic 4:



Diseases related to Aortic Aneurysm, Familial Thoracic 4

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 4

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 4:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 ascending aortic dissection 31 occasional (7.5%) HP:0004933
2 stroke 31 occasional (7.5%) HP:0001297
3 coronary artery atherosclerosis 31 very rare (1%) HP:0001677
4 bicuspid aortic valve 31 HP:0001647
5 patent ductus arteriosus 31 HP:0001643
6 aortic aneurysm 31 HP:0004942
7 aortic regurgitation 31 HP:0001659
8 abnormal iris pigmentation 31 HP:0008034
9 abnormal left ventricular function 31 HP:0005162
10 cystic medial necrosis 31 HP:0012180

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
patent ductus arteriosus
aneurysm, ascending aorta
dissection, ascending aorta (in some patients)
aneurysm, descending aorta (in some patients)
dissection, descending aorta (in some patients)
more
Neurologic Central Nervous System:
stroke (in some patients)

Cardiovascular Heart:
aortic valve regurgitation
left ventricular failure

Clinical features from OMIM®:

132900 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Aortic Aneurysm, Familial Thoracic 4:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 ACTA2 COL1A1 COL3A1 COL5A1 COL5A2 FBN1
2 growth/size/body region MP:0005378 10.23 BGN COL1A1 COL3A1 COL5A1 COL5A2 FBN1
3 cellular MP:0005384 10.22 BGN COL1A1 COL3A1 FBN1 MYH11 NDE1
4 integument MP:0010771 10.14 BGN COL1A1 COL3A1 COL5A1 COL5A2 FBN1
5 embryo MP:0005380 10.13 COL1A1 COL5A1 FBN1 LOX NDE1 SMAD3
6 immune system MP:0005387 10.13 BGN COL1A1 COL3A1 FBN1 LOX SLC2A10
7 mortality/aging MP:0010768 10.1 BGN COL1A1 COL3A1 COL5A1 COL5A2 FBN1
8 craniofacial MP:0005382 10.05 BGN COL1A1 FBN1 LOX SMAD3 TGFB2
9 digestive/alimentary MP:0005381 10.04 COL1A1 COL3A1 MYH11 SMAD3 TGFB2 TGFBR1
10 muscle MP:0005369 9.96 ACTA2 BGN COL1A1 COL3A1 FBN1 LOX
11 limbs/digits/tail MP:0005371 9.85 BGN COL1A1 FBN1 LOX SMAD3 TGFB2
12 renal/urinary system MP:0005367 9.7 COL1A1 FBN1 MYH11 SLC2A10 SMAD3 TGFB2
13 respiratory system MP:0005388 9.65 COL1A1 COL3A1 COL5A2 FBN1 LOX MYH11
14 skeleton MP:0005390 9.28 BGN COL1A1 COL5A2 FBN1 LOX SMAD3

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 4

Drugs for Aortic Aneurysm, Familial Thoracic 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
2
Cefazolin Approved Phase 2, Phase 3 25953-19-9 656510 33255
3
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
4
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
5
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
6 Anesthetics Phase 2, Phase 3
7 Epinephryl borate Phase 2, Phase 3
8 Anti-Bacterial Agents Phase 2, Phase 3
9 Antibiotics, Antitubercular Phase 2, Phase 3
10 Anti-Infective Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tumescent Anesthesia Antibiotic Delivery (TAAD) and SubQKath for Prevention of Surgical Site Infection, Thrombosis and Sepsis Not yet recruiting NCT03226626 Phase 2, Phase 3 Tumescent Anesthesia and antibiotic delivery (TAAD) plus IVAD
2 Superiority Trial of Type b Aortic Dissection Treatment Combined With Implantation of Bare Metal Stent in Abdominal Part of Aorta Versus Conventional Type b Treatment Unknown status NCT02726841
3 Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and Dissection Recruiting NCT02852603

Search NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 4

Genetic Tests for Aortic Aneurysm, Familial Thoracic 4

Genetic tests related to Aortic Aneurysm, Familial Thoracic 4:

# Genetic test Affiliating Genes
1 Aortic Aneurysm, Familial Thoracic 4 29 MYH11

Anatomical Context for Aortic Aneurysm, Familial Thoracic 4

MalaCards organs/tissues related to Aortic Aneurysm, Familial Thoracic 4:

40
Smooth Muscle, Bone, Skin, Whole Blood, Kidney, Heart

Publications for Aortic Aneurysm, Familial Thoracic 4

Articles related to Aortic Aneurysm, Familial Thoracic 4:

(show top 50) (show all 316)
# Title Authors PMID Year
1
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. 57 6
17666408 2007
2
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. 57 6
16444274 2006
3
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. 57 6
14722581 2004
4
Aortic dissection and patent ductus arteriosus in three generations. 6 57
11249915 2001
5
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease. 6
31098894 2019
6
Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy. 6
31624717 2019
7
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 6
30675029 2019
8
Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations. 6
31096651 2019
9
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. 6
30661052 2019
10
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. 6
29543232 2018
11
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. 6
29907982 2018
12
Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center. 6
29510914 2018
13
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations. 6
30158670 2018
14
Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome. 6
30048161 2018
15
Impact of Pathogenic FBN1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome. 6
29848614 2018
16
The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums. 6
29768367 2018
17
Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene. 6
29717556 2018
18
Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation. 6
29444731 2018
19
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. 6
29392890 2018
20
Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2. 6
29339704 2018
21
Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg. 6
28321935 2018
22
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome. 6
29357934 2018
23
FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 6
28973303 2017
24
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. 6
28941062 2017
25
A novel FBN1 mutation causes autosomal dominant Marfan syndrome. 6
28944857 2017
26
High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder. 6
29179725 2017
27
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. 6
28642162 2017
28
Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing. 6
28855619 2017
29
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 6
27906200 2017
30
De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation. 6
28277377 2017
31
De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation. 6
28650953 2017
32
Extreme phenotypes of Loeys Dietz syndrome. 6
28225382 2017
33
A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms. 6
28185953 2017
34
Diagnostic value of exome and whole genome sequencing in craniosynostosis. 6
27884935 2017
35
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. 6
27582083 2017
36
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. 6
28050602 2017
37
A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis. 6
28098115 2017
38
Recapitulating and Correcting Marfan Syndrome in a Cellular Model. 6
28539832 2017
39
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. 6
27893734 2017
40
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 6
27879313 2016
41
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. 6
27011056 2016
42
Assessment of copy number variations in 120 patients with Poland syndrome. 6
27884122 2016
43
Genotype impacts survival in Marfan syndrome. 6
26787436 2016
44
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 6
27437668 2016
45
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients. 6
27724990 2016
46
Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ. 6
27508510 2016
47
A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family. 6
27353645 2016
48
Genetic testing of 248 Chinese aortopathy patients using a panel assay. 6
27611364 2016
49
Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection. 6
27125181 2016
50
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 6
27432961 2016

Variations for Aortic Aneurysm, Familial Thoracic 4

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 4:

6 (show top 50) (show all 6923)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFBR2 NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) SNV Pathogenic 12514 rs104893811 GRCh37: 3:30715720-30715720
GRCh38: 3:30674228-30674228
2 FBN1 NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) SNV Pathogenic 16457 rs137854478 GRCh37: 15:48780430-48780430
GRCh38: 15:48488233-48488233
3 TGFBR2 NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) SNV Pathogenic 12511 rs104893815 GRCh37: 3:30732970-30732970
GRCh38: 3:30691478-30691478
4 FBN1 NM_000138.4(FBN1):c.5801G>C (p.Cys1934Ser) SNV Pathogenic 565697 rs794728240 GRCh37: 15:48737689-48737689
GRCh38: 15:48445492-48445492
5 FBN1 NM_000138.4(FBN1):c.6757G>T (p.Glu2253Ter) SNV Pathogenic 566067 rs1245476075 GRCh37: 15:48722982-48722982
GRCh38: 15:48430785-48430785
6 FBN1 NM_000138.4(FBN1):c.7399C>T (p.Gln2467Ter) SNV Pathogenic 566434 rs1566892727 GRCh37: 15:48717620-48717620
GRCh38: 15:48425423-48425423
7 FBN1 NM_000138.4(FBN1):c.3143T>C (p.Ile1048Thr) SNV Pathogenic 549131 rs1555398673 GRCh37: 15:48780630-48780630
GRCh38: 15:48488433-48488433
8 FBN1 NM_000138.4(FBN1):c.6244G>T (p.Glu2082Ter) SNV Pathogenic 547337 rs1052480459 GRCh37: 15:48730034-48730034
GRCh38: 15:48437837-48437837
9 FBN1 NM_000138.4(FBN1):c.7663G>A (p.Gly2555Arg) SNV Pathogenic 567107 rs1566891655 GRCh37: 15:48713791-48713791
GRCh38: 15:48421594-48421594
10 FBN1 NM_000138.4(FBN1):c.5918-1G>C SNV Pathogenic 567577 rs1566898144 GRCh37: 15:48736858-48736858
GRCh38: 15:48444661-48444661
11 FBN1 NM_000138.4(FBN1):c.2562G>A (p.Trp854Ter) SNV Pathogenic 549096 rs1555399164 GRCh37: 15:48787435-48787435
GRCh38: 15:48495238-48495238
12 FBN1 NM_000138.4(FBN1):c.6883T>C (p.Cys2295Arg) SNV Pathogenic 567978 rs1555394644 GRCh37: 15:48720657-48720657
GRCh38: 15:48428460-48428460
13 FBN1 NM_000138.4(FBN1):c.2113+1G>C SNV Pathogenic 568188 rs1566913670 GRCh37: 15:48795983-48795983
GRCh38: 15:48503786-48503786
14 TGFBR2 NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln) SNV Pathogenic 12503 rs121918714 GRCh37: 3:30732963-30732963
GRCh38: 3:30691471-30691471
15 FBN1 NM_000138.4(FBN1):c.126del (p.Lys43fs) Deletion Pathogenic 568779 rs1566944839 GRCh37: 15:48936841-48936841
GRCh38: 15:48644644-48644644
16 FBN1 NM_000138.4(FBN1):c.5503T>A (p.Cys1835Ser) SNV Pathogenic 549282 rs1555396198 GRCh37: 15:48744801-48744801
GRCh38: 15:48452604-48452604
17 FBN1 NM_000138.4(FBN1):c.7398C>G (p.Tyr2466Ter) SNV Pathogenic 569834 rs1555394402 GRCh37: 15:48717621-48717621
GRCh38: 15:48425424-48425424
18 FBN1 NM_000138.4(FBN1):c.7251dup (p.Cys2418fs) Duplication Pathogenic 570130 rs1566892906 GRCh37: 15:48718014-48718015
GRCh38: 15:48425817-48425818
19 TGFBR2 NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) SNV Pathogenic 12512 rs104893810 GRCh37: 3:30732969-30732969
GRCh38: 3:30691477-30691477
20 FBN1 NM_000138.4(FBN1):c.3518A>T (p.Asn1173Ile) SNV Pathogenic 570671 rs1555398520 GRCh37: 15:48779343-48779343
GRCh38: 15:48487146-48487146
21 FBN1 NM_000138.4(FBN1):c.4942+1G>A SNV Pathogenic 570762 rs1566903907 GRCh37: 15:48757764-48757764
GRCh38: 15:48465567-48465567
22 FBN1 NM_000138.4(FBN1):c.671G>A (p.Cys224Tyr) SNV Pathogenic 570805 rs1566922396 GRCh37: 15:48829873-48829873
GRCh38: 15:48537676-48537676
23 FBN1 NM_000138.4(FBN1):c.660_661del (p.Pro220_Cys221insTer) Deletion Pathogenic 549352 rs1555401679 GRCh37: 15:48829883-48829884
GRCh38: 15:48537686-48537687
24 FBN1 NM_000138.4(FBN1):c.1302T>A (p.Tyr434Ter) SNV Pathogenic 571414 rs1566916969 GRCh37: 15:48808405-48808405
GRCh38: 15:48516208-48516208
25 FBN1 NM_000138.4(FBN1):c.3073_3074insA (p.Phe1025fs) Insertion Pathogenic 571557 rs1566910251 GRCh37: 15:48782056-48782057
GRCh38: 15:48489859-48489860
26 FBN1 NM_000138.4(FBN1):c.5296+5G>C SNV Pathogenic 571937 rs1566902515 GRCh37: 15:48752438-48752438
GRCh38: 15:48460241-48460241
27 FBN1 NM_000138.4(FBN1):c.2945G>C (p.Cys982Ser) SNV Pathogenic 392364 rs1057524458 GRCh37: 15:48782185-48782185
GRCh38: 15:48489988-48489988
28 LOC113939944 , FBN1 NM_000138.4(FBN1):c.1010dup (p.Tyr337Ter) Duplication Pathogenic 572222 rs1566918075 GRCh37: 15:48812992-48812993
GRCh38: 15:48520795-48520796
29 FBN1 NM_000138.4(FBN1):c.3952dup (p.Thr1318fs) Duplication Pathogenic 572235 rs1566908063 GRCh37: 15:48773863-48773864
GRCh38: 15:48481666-48481667
30 FBN1 NM_000138.4(FBN1):c.7240C>T (p.Arg2414Ter) SNV Pathogenic 519729 rs112550005 GRCh37: 15:48718026-48718026
GRCh38: 15:48425829-48425829
31 FBN1 NM_000138.4(FBN1):c.401G>A (p.Cys134Tyr) SNV Pathogenic 495602 rs1555405043 GRCh37: 15:48892377-48892377
GRCh38: 15:48600180-48600180
32 FBN1 NM_000138.4(FBN1):c.4177_4199del (p.Glu1393fs) Deletion Pathogenic 572456 rs1566906389 GRCh37: 15:48766463-48766485
GRCh38: 15:48474266-48474288
33 FBN1 NM_000138.4(FBN1):c.7664G>T (p.Gly2555Val) SNV Pathogenic 572714 rs1566891654 GRCh37: 15:48713790-48713790
GRCh38: 15:48421593-48421593
34 FBN1 NM_000138.4(FBN1):c.3432dup (p.Gln1145fs) Duplication Pathogenic 573107 rs1566909483 GRCh37: 15:48779539-48779540
GRCh38: 15:48487342-48487343
35 FBN1 NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) SNV Pathogenic 16437 rs137854464 GRCh37: 15:48717680-48717680
GRCh38: 15:48425483-48425483
36 FBN1 NM_000138.4(FBN1):c.1759T>G (p.Cys587Gly) SNV Pathogenic 199978 rs1555399968 GRCh37: 15:48800857-48800857
GRCh38: 15:48508660-48508660
37 FBN1 NM_000138.4(FBN1):c.3337+1del Deletion Pathogenic 574182 rs1566909762 GRCh37: 15:48780309-48780309
GRCh38: 15:48488112-48488112
38 FBN1 NM_000138.4(FBN1):c.6325C>T (p.Gln2109Ter) SNV Pathogenic 488820 rs1555395229 GRCh37: 15:48729573-48729573
GRCh38: 15:48437376-48437376
39 FBN1 NM_000138.4(FBN1):c.7549C>T (p.Gln2517Ter) SNV Pathogenic 574342 rs1566891808 GRCh37: 15:48714170-48714170
GRCh38: 15:48421973-48421973
40 FBN1 NM_000138.4(FBN1):c.2243G>A (p.Cys748Tyr) SNV Pathogenic 420086 rs1064794282 GRCh37: 15:48789513-48789513
GRCh38: 15:48497316-48497316
41 FBN1 NM_000138.4(FBN1):c.386G>A (p.Cys129Tyr) SNV Pathogenic 574616 rs1566935517 GRCh37: 15:48892392-48892392
GRCh38: 15:48600195-48600195
42 FBN1 NM_000138.4(FBN1):c.7342T>C (p.Cys2448Arg) SNV Pathogenic 574697 rs1566892757 GRCh37: 15:48717677-48717677
GRCh38: 15:48425480-48425480
43 FBN1 NM_000138.4(FBN1):c.1710T>G (p.Cys570Trp) SNV Pathogenic 575196 rs193922183 GRCh37: 15:48802245-48802245
GRCh38: 15:48510048-48510048
44 FBN1 NM_000138.4(FBN1):c.2384del (p.Gly795fs) Deletion Pathogenic 575476 rs1566911908 GRCh37: 15:48788332-48788332
GRCh38: 15:48496135-48496135
45 LOC113939944 , FBN1 NM_000138.4(FBN1):c.1021_1028del (p.Thr341fs) Deletion Pathogenic 575840 rs1566918060 GRCh37: 15:48812975-48812982
GRCh38: 15:48520778-48520785
46 FBN1 NM_000138.4(FBN1):c.7410C>G (p.Cys2470Trp) SNV Pathogenic 549408 rs1555394397 GRCh37: 15:48717609-48717609
GRCh38: 15:48425412-48425412
47 FBN1 NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) SNV Pathogenic 42310 rs397515774 GRCh37: 15:48787716-48787716
GRCh38: 15:48495519-48495519
48 FBN1 NM_000138.4(FBN1):c.7987T>C (p.Cys2663Arg) SNV Pathogenic 576623 rs1566889870 GRCh37: 15:48707797-48707797
GRCh38: 15:48415600-48415600
49 FBN1 NM_000138.4(FBN1):c.5362_5364delinsGACT (p.Ser1788fs) Indel Pathogenic 576668 rs1566901605 GRCh37: 15:48748892-48748894
GRCh38: 15:48456695-48456697
50 FBN1 NM_000138.4(FBN1):c.5666G>T (p.Cys1889Phe) SNV Pathogenic 576709 rs1566899500 GRCh37: 15:48740970-48740970
GRCh38: 15:48448773-48448773

UniProtKB/Swiss-Prot genetic disease variations for Aortic Aneurysm, Familial Thoracic 4:

72
# Symbol AA change Variation ID SNP ID
1 MYH11 p.Arg1758Gln VAR_031735 rs142546324

Expression for Aortic Aneurysm, Familial Thoracic 4

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 4.

Pathways for Aortic Aneurysm, Familial Thoracic 4

Pathways related to Aortic Aneurysm, Familial Thoracic 4 according to GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 FBN1
2
Show member pathways
13.23 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
3
Show member pathways
13.1 TGFBR2 TGFBR1 TGFB2 MYH11 FBN1 COL5A2
4
Show member pathways
12.94 TGFBR2 TGFBR1 COL3A1 COL1A1 ACTA2
5
Show member pathways
12.9 TGFBR1 TGFB2 FBN1 COL5A2 COL5A1 COL3A1
6
Show member pathways
12.86 TGFBR2 TGFBR1 TGFB2 MYH11 ACTA2
7
Show member pathways
12.79 LOX COL5A2 COL5A1 COL3A1 COL1A1
8
Show member pathways
12.52 TGFBR2 TGFBR1 TGFB2 SMAD3
9
Show member pathways
12.41 TGFBR2 TGFBR1 TGFB2 SMAD3
10 12.28 TGFBR2 TGFBR1 TGFB2 SMAD3
11
Show member pathways
12.21 TGFB2 LOX FBN1 COL5A2 COL5A1 COL3A1
12 12.13 TGFBR2 TGFBR1 TGFB2 SMAD3
13 12.09 TGFBR2 TGFBR1 TGFB2 SMAD3
14 12.08 TGFBR2 TGFBR1 TGFB2 SMAD3
15 12.03 TGFBR2 TGFB2 SLC2A10
16
Show member pathways
12.01 TGFBR2 TGFBR1 TGFB2 SMAD3
17 12 TGFBR1 SMAD3 ACTA2
18 11.99 TGFBR2 TGFBR1 SMAD3
19 11.88 SMAD3 COL3A1 COL1A1
20
Show member pathways
11.88 TGFBR2 TGFBR1 TGFB2 SMAD3
21 11.86 TGFB2 COL3A1 COL1A1
22 11.82 TGFB2 BGN ACTA2
23 11.82 TGFBR2 TGFBR1 TGFB2 SMAD3
24
Show member pathways
11.81 TGFBR2 TGFBR1 SMAD3
25
Show member pathways
11.77 TGFBR2 TGFBR1 TGFB2 SMAD3
26
Show member pathways
11.69 TGFB2 LOX FBN1
27 11.69 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
28 11.68 TGFBR2 TGFBR1 SMAD3
29 11.67 TGFBR2 TGFBR1 SMAD3
30
Show member pathways
11.66 TGFBR2 TGFBR1 SMAD3
31
Show member pathways
11.66 TGFBR2 TGFBR1 SMAD3 LOX
32 11.59 TGFBR2 TGFBR1 TGFB2 SMAD3 ACTA2
33 11.57 TGFBR2 TGFBR1 SMAD3
34
Show member pathways
11.56 TGFBR2 TGFBR1 TGFB2 SMAD3
35 11.51 TGFBR2 TGFBR1 SMAD3
36 11.49 TGFBR2 TGFBR1 TGFB2
37 11.43 TGFBR1 SMAD3 COL1A1
38 11.41 COL5A2 COL5A1 COL3A1
39 11.15 TGFBR2 TGFBR1 TGFB2 SMAD3
40 11.1 TGFBR2 TGFBR1 TGFB2 SMAD3 COL3A1 COL1A1
41 11.02 TGFBR2 TGFBR1 SMAD3
42 10.94 TGFB2 FBN1 COL5A2 COL5A1 COL3A1 COL1A1
43 10.9 TGFBR2 TGFBR1 TGFB2
44 10.85 TGFBR2 TGFBR1 SMAD3 FBN1

GO Terms for Aortic Aneurysm, Familial Thoracic 4

Cellular components related to Aortic Aneurysm, Familial Thoracic 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.01 TGFB2 LOX FBN1 COL5A2 COL5A1 COL3A1
2 extracellular space GO:0005615 9.91 TGFB2 LOX FBN1 COL5A2 COL5A1 COL3A1
3 endoplasmic reticulum lumen GO:0005788 9.72 FBN1 COL5A2 COL5A1 COL3A1 COL1A1
4 collagen trimer GO:0005581 9.55 LOX COL5A2 COL5A1 COL3A1 COL1A1
5 collagen-containing extracellular matrix GO:0062023 9.5 TGFB2 FBN1 COL5A2 COL5A1 COL3A1 COL1A1
6 collagen type V trimer GO:0005588 9.37 COL5A2 COL5A1
7 extracellular matrix GO:0031012 9.17 LOX FBN1 COL5A2 COL5A1 COL3A1 COL1A1

Biological processes related to Aortic Aneurysm, Familial Thoracic 4 according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.96 TGFBR2 TGFB2 LOX COL1A1
2 heart development GO:0007507 9.93 TGFBR2 TGFBR1 TGFB2 LOX FBN1 COL3A1
3 extracellular matrix organization GO:0030198 9.91 LOX FBN1 COL5A2 COL5A1 COL3A1 COL1A1
4 kidney development GO:0001822 9.85 TGFBR1 TGFB2 FBN1
5 cell cycle arrest GO:0007050 9.85 TGFBR1 TGFB2 SMAD3
6 osteoblast differentiation GO:0001649 9.84 SMAD3 LOX COL1A1
7 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.84 TGFBR2 TGFBR1 SMAD3 SLC2A10
8 transforming growth factor beta receptor signaling pathway GO:0007179 9.83 TGFBR2 TGFBR1 TGFB2 SMAD3 COL3A1
9 cellular response to transforming growth factor beta stimulus GO:0071560 9.8 TGFBR1 SMAD3 FBN1 COL1A1
10 response to mechanical stimulus GO:0009612 9.79 TGFBR2 COL3A1 COL1A1
11 blood vessel development GO:0001568 9.78 TGFBR2 LOX COL5A1 COL1A1
12 ventricular septum morphogenesis GO:0060412 9.75 TGFBR2 TGFBR1 TGFB2
13 embryonic cranial skeleton morphogenesis GO:0048701 9.74 TGFBR2 TGFBR1 SMAD3
14 response to steroid hormone GO:0048545 9.73 TGFBR2 LOX COL1A1
15 skin development GO:0043588 9.72 SLC2A10 COL5A2 COL5A1 COL3A1 COL1A1
16 activin receptor signaling pathway GO:0032924 9.7 TGFBR2 TGFBR1 SMAD3
17 skeletal system development GO:0001501 9.7 TGFBR1 TGFB2 SMAD3 FBN1 COL5A2 COL3A1
18 pathway-restricted SMAD protein phosphorylation GO:0060389 9.69 TGFBR2 TGFBR1 TGFB2
19 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.67 TGFBR2 TGFBR1
20 secondary palate development GO:0062009 9.66 TGFBR2 TGFB2
21 supramolecular fiber organization GO:0097435 9.65 COL5A1 COL3A1
22 cardiac epithelial to mesenchymal transition GO:0060317 9.65 TGFBR1 TGFB2
23 positive regulation of epithelial to mesenchymal transition GO:0010718 9.65 TGFBR2 TGFBR1 TGFB2 SMAD3 COL1A1
24 ventricular trabecula myocardium morphogenesis GO:0003222 9.64 TGFBR1 TGFB2
25 atrioventricular valve morphogenesis GO:0003181 9.64 TGFBR2 TGFB2
26 response to cholesterol GO:0070723 9.63 TGFBR2 TGFBR1
27 elastic fiber assembly GO:0048251 9.63 MYH11 LOX
28 collagen biosynthetic process GO:0032964 9.62 COL5A1 COL1A1
29 membranous septum morphogenesis GO:0003149 9.62 TGFBR2 TGFB2
30 regulation of striated muscle tissue development GO:0016202 9.61 SMAD3 LOX
31 regulation of transforming growth factor beta2 production GO:0032909 9.6 TGFB2 SMAD3
32 endocardial cushion fusion GO:0003274 9.59 TGFBR2 TGFB2
33 eye morphogenesis GO:0048592 9.58 COL5A2 COL5A1
34 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.58 TGFBR2 TGFBR1 TGFB2
35 negative regulation of endodermal cell differentiation GO:1903225 9.55 COL5A2 COL5A1
36 wound healing GO:0042060 9.5 TGFBR2 TGFBR1 TGFB2 SMAD3 LOX COL3A1
37 collagen fibril organization GO:0030199 9.17 TGFBR1 TGFB2 LOX COL5A2 COL5A1 COL3A1

Molecular functions related to Aortic Aneurysm, Familial Thoracic 4 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.69 FBN1 COL5A1 COL3A1
2 transforming growth factor beta receptor binding GO:0005160 9.49 TGFB2 SMAD3
3 activin binding GO:0048185 9.48 TGFBR2 TGFBR1
4 I-SMAD binding GO:0070411 9.46 TGFBR1 SMAD3
5 SMAD binding GO:0046332 9.46 TGFBR2 TGFBR1 SMAD3 COL5A2
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.43 TGFBR2 TGFBR1
7 platelet-derived growth factor binding GO:0048407 9.43 COL5A1 COL3A1 COL1A1
8 transforming growth factor beta-activated receptor activity GO:0005024 9.4 TGFBR2 TGFBR1
9 type II transforming growth factor beta receptor binding GO:0005114 9.37 TGFBR1 TGFB2
10 type III transforming growth factor beta receptor binding GO:0034714 9.32 TGFBR2 TGFB2
11 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL5A2 COL5A1 COL3A1 COL1A1
12 extracellular matrix structural constituent GO:0005201 9.1 FBN1 COL5A2 COL5A1 COL3A1 COL1A1 BGN

Sources for Aortic Aneurysm, Familial Thoracic 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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