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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Aortic Aneurysm, Thoracic (D017545)
Parent Node: Ductus Arteriosus, Patent (D004374)
..Starting node ..Aortic aneurysm, familial thoracic 4 (C537784)
Child Nodes:
Sister Nodes:
..Aortic aneurysm, familial thoracic 4 (C537784)
..Char syndrome (C566815)
..Gorlin Chaudhry Moss syndrome (C537290)
..Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth (C538341)
..Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies (C565782)
..Ramos Arroyo Clark syndrome (C535286)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

784

Name:

Aortic aneurysm, familial thoracic 4

Definition:

Alternative IDs:

OMIM:132900

ParentIDs:

MESH:D004374|MESH:D017545

TreeNumbers:

C14.240.400.340/C537784 |C14.280.400.340/C537784 |C14.907.055.239.125/C537784 |C14.907.109.139.125/C537784 |C16.131.240.400.340/C537784

Synonyms:

AAT4 |Aortic aneurysm/aortic dissection and patent ductus arteriosus |FAA4

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: C537784
MeSH: C537784
OMIM: 132900;

Genes: MYH11;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0008034	Abnormal iris pigmentation
3	HP:0005162	Abnormal left ventricular function
4	HP:0004942	Aortic aneurysm
5	HP:0001659	Aortic regurgitation
6	HP:0004933	Ascending aortic dissection	HP:0040283
7	HP:0001647	Bicuspid aortic valve
8	HP:0001677	Coronary artery atherosclerosis	HP:0040284
9	HP:0012180	Cystic medial necrosis
10	HP:0001643	Patent ductus arteriosus
11	HP:0001297	Stroke	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001040113.1(MYH11):c.5822A>G (p.Gln1941Arg)	-1	-	Uncertain significance	761957202	RCV000203125;	N	MedGen:C1851504,OMIM:132900	16	15802684	15802684	NM_001040113.1:c.5822A>G	NP_001035202.1:p.Gln1941Arg	NC_000016.9:g.15802684T>C	-	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_001040113.1(MYH11):c.5456_5461dupTCAAGT (p.Lys1820_Ser1821insPheLys)	-1	-	Uncertain significance	864309564	RCV000203002;	N	MedGen:C1851504,OMIM:132900	16	15811061	15811066	NM_001040113.1:c.5456_5461dupTCAAGT	NP_001035202.1:p.Lys1820_Ser1821insPheLys	NC_000016.9:g.15811061_15811066dupACTTGA	-	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_001040113.1(MYH11):c.5294G>A (p.Arg1765Gln)	-1	-	Likely benign;Pathogenic;Uncertain significance	142546324	RCV000015192; RCV000148691; RCV000182528;	N	MedGen:C1851504,OMIM:132900; MedGen:CN169374	16	15812194	15812194	NM_001040113.1:c.5294G>A	NP_001035202.1:p.Arg1765Gln	NC_000016.9:g.15812194C>T	OMIM Allelic Variant:160745.0001	C1851504 132900 Aortic aneurysm, familial thoracic 4; CN169374 not specified
NM_001040113.1(MYH11):c.5294G>A (p.Arg1765Gln)	-1	-	Likely benign;Pathogenic;Uncertain significance	142546324	RCV000015192; RCV000148691; RCV000182528;	N	MedGen:C1851504,OMIM:132900; MedGen:CN169374	16	15812194	15812194	NM_001040113.1:c.5294G>A	NP_001035202.1:p.Arg1765Gln	NC_000016.9:g.15812194C>T	OMIM Allelic Variant:160745.0001	C1851504 132900 Aortic aneurysm, familial thoracic 4; CN169374 not specified
NM_002474.2(MYH11):c.5213T>C (p.Ile1738Thr)	-1	-	Uncertain significance	794729642	RCV000185544;	N	MedGen:C1851504,OMIM:132900	16	15812254	15812254	NM_002474.2:c.5213T>C	NP_002465.1:p.Ile1738Thr	NC_000016.9:g.15812254A>G	-	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_001040113.1(MYH11):c.5073C>G (p.Ser1691Arg)	-1	-	Uncertain significance	760908992	RCV000202728;	N	MedGen:C1851504,OMIM:132900	16	15813472	15813472	NM_001040113.1:c.5073C>G	NP_001035202.1:p.Ser1691Arg	NC_000016.9:g.15813472G>C	-	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_002474.2(MYH11):c.4578+3A>G	-1	-	Benign;Uncertain significance	143288748	RCV000203113; RCV000126954;	N	MedGen:C1851504,OMIM:132900; MedGen:CN169374	16	15815276	15815276	NM_002474.2:c.4578+3A>G		NC_000016.9:g.15815276T>C	-	C1851504 132900 Aortic aneurysm, familial thoracic 4; CN169374 not specified
NM_001040113.1(MYH11):c.4599+1G>T	-1	-	Pathogenic	397514037	RCV000015192;	N	MedGen:C1851504,OMIM:132900	16	15815278	15815278	NM_001040113.1:c.4599+1G>T		NC_000016.9:g.15815278C>A	-	C1851504 132900 Aortic aneurysm, familial thoracic 4; CN169374 not specified
NM_001040113.1(MYH11):c.4459G>C (p.Glu1487Gln)	-1	-	Uncertain significance	864622710	RCV000205760;	N	MedGen:C1851504,OMIM:132900	16	15815419	15815419	NM_001040113.1:c.4459G>C	NP_001035202.1:p.Glu1487Gln	NC_000016.9:g.15815419C>G	-	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_001040113.1(MYH11):c.4218G>A (p.Lys1406=)	-1	-	Benign	113302393	RCV000204777;	N	MedGen:C1851504,OMIM:132900	16	15818186	15818186	NM_001040113.1:c.4218G>A	NP_001035202.1:p.Lys1406=	NC_000016.9:g.15818186C>T	-	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_001040113.1(MYH11):c.3845G>T (p.Arg1282Leu)	4629	MYH11	Pathogenic	267606901	RCV000015195;	N	MedGen:C1851504,OMIM:132900	16	15820739	15820739	NM_001040113.1:c.3845G>T	NP_001035202.1:p.Arg1282Leu	NC_000016.9:g.15820739C>A	OMIM Allelic Variant:160745.0004	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_001040113.1(MYH11):c.3743_3814del72 (p.Arg1248_Leu1271del)	4629	MYH11	Pathogenic	-1	RCV000015193;	N	MedGen:C1851504,OMIM:132900	16	15820770	15820841	NM_001040113.1:c.3743_3814del72	NP_001035202.1:p.Arg1248_Leu1271del		OMIM Allelic Variant:160745.0002,dbVar:nssv3761581,dbVar:nsv1067877	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_002474.2(MYH11):c.3791T>C (p.Leu1264Pro)	4629	MYH11	Pathogenic	201831933	RCV000144438; RCV000182510;	Y	MedGen:C1851504,OMIM:132900; MedGen:CN221809	16	15820772	15820772	NM_002474.2:c.3791T>C	NP_002465.1:p.Leu1264Pro	NC_000016.9:g.15820772A>G	-	C1851504 132900 Aortic aneurysm, familial thoracic 4; CN221809 not provided
NM_001040113.1(MYH11):c.3791T>C (p.Leu1264Pro)	4629	MYH11	Pathogenic	387906532	RCV000015194;	N	MedGen:C1851504,OMIM:132900	16	15820793	15820793	NM_001040113.1:c.3791T>C	NP_001035202.1:p.Leu1264Pro	NC_000016.9:g.15820793A>G	OMIM Allelic Variant:160745.0003	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_001040113.1(MYH11):c.3443_3491del49 (p.Lys1148Thrfs)	4629	MYH11	Pathogenic	797045725	RCV000194899;	N	MedGen:C1851504,OMIM:132900	16	15829259	15829307	NM_001040113.1:c.3443_3491del49	NP_001035202.1:p.Lys1148Thrfs	NC_000016.9:g.15829259_15829307del49	-	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_001040113.1(MYH11):c.2830_2831delAG (p.Arg944Glyfs)	4629	MYH11	Pathogenic	749497185	RCV000193616;	N	MedGen:C1851504,OMIM:132900	16	15835369	15835370	NM_001040113.1:c.2830_2831delAG	NP_001035202.1:p.Arg944Glyfs	NC_000016.9:g.15835369_15835370delCT	-	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_022844.2(MYH11):c.2135G>A (p.Arg712Gln)	4629	MYH11	Likely pathogenic;Pathogenic	267606902	RCV000015196; RCV000157330;	Y	MedGen:C1851504,OMIM:132900; MedGen:CN118826, Orphanet:ORPHA91387	16	15841949	15841949	NM_022844.2:c.2135G>A	NP_074035.1:p.Arg712Gln	NC_000016.9:g.15841949C>T	OMIM Allelic Variant:160745.0005	C1851504 132900 Aortic aneurysm, familial thoracic 4; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_001040113.1(MYH11):c.2120G>T (p.Arg707Leu)	4629	MYH11	Uncertain significance	376758800	RCV000204679;	N	MedGen:C1851504,OMIM:132900	16	15841985	15841985	NM_001040113.1:c.2120G>T	NP_001035202.1:p.Arg707Leu	NC_000016.9:g.15841985C>A	-	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_001040113.1(MYH11):c.2070C>T (p.His690=)	4629	MYH11	Likely benign	150924100	RCV000205608;	N	MedGen:C1851504,OMIM:132900	16	15844004	15844004	NM_001040113.1:c.2070C>T	NP_001035202.1:p.His690=	NC_000016.9:g.15844004G>A	-	C1851504 132900 Aortic aneurysm, familial thoracic 4
NM_001040113.1(MYH11):c.2026C>T (p.Arg676Cys)	4629	MYH11	Pathogenic;Uncertain significance	111404182	RCV000148694; RCV000182496;	N	MedGen:C1851504,OMIM:132900; MedGen:CN118826, Orphanet:ORPHA91387	16	15844048	15844048	NM_001040113.1:c.2026C>T	NP_001035202.1:p.Arg676Cys	NC_000016.9:g.15844048G>A	-	C1851504 132900 Aortic aneurysm, familial thoracic 4; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_002474.2(MYH11):c.914A>G (p.Asn305Ser)	4629	MYH11	Benign;Uncertain significance	185661462	RCV000204065; RCV000182549;	N	MedGen:C1851504,OMIM:132900; MedGen:CN169374	16	15865545	15865545	NM_002474.2:c.914A>G	NP_002465.1:p.Asn305Ser	NC_000016.9:g.15865545T>C	-	C1851504 132900 Aortic aneurysm, familial thoracic 4; CN169374 not specified
NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys)	4629	MYH11	Likely benign;Uncertain significance	150759461	RCV000206298; RCV000157329; RCV000182546; RCV000148692;	N	MedGen:C1851504,OMIM:132900; MedGen:C2697932, Orphanet:ORPHA60030,SNOMED CT:446263001; MedGen:CN169374; MedGen:CN221557	16	15872688	15872688	NM_001040113.1:c.760C>T	NP_001035202.1:p.Arg254Cys	NC_000016.9:g.15872688G>A	-	CN221557 Altered myosin contractile function; C1851504 132900 Aortic aneurysm, familial thoracic 4; C2697932 Loeys-Dietz syndrome; CN169374 not specified
NM_001040113.1(MYH11):c.294A>C (p.Glu98Asp)	4629	MYH11	Uncertain significance	864309563	RCV000202901;	N	MedGen:C1851504,OMIM:132900	16	15931816	15931816	NM_001040113.1:c.294A>C	NP_001035202.1:p.Glu98Asp	NC_000016.9:g.15931816T>G	-	C1851504 132900 Aortic aneurysm, familial thoracic 4