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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: Joint Instability (D007593)
Parent Node: Skin Diseases, Genetic (D012873)
Parent Node: Vascular Malformations (D054079)
..Starting node ..Arterial Tortuosity Syndrome (C565942)
Child Nodes:
Sister Nodes:
..Arterial Tortuosity Syndrome (C565942)
..Arterio-Arterial Fistula (D001159) 2
..Arteriovenous Malformations (D001165) 12
..Capillary Malformations, Congenital, 1 (C562760) 1
..Central Nervous System Vascular Malformations (D020785) 10
..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Hemophilia A with Vascular Abnormality (C564415)
..May-Thurner Syndrome (D062108)
..Patent Ductus Venosus (C562830)
..Prepapillary Vascular Loops (C563287)
..Pulmonary Atresia (D018633) 2
..Scimitar Syndrome (D012587) 1
..Single Umbilical Artery (D058529)
..Splenoportal Vascular Anomalies (C562761)
..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
..Vascular Fistula (D016157) 7
..Vascular Malformation, Primary Intraosseous (C564648)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

882

Name:

Arterial Tortuosity Syndrome

Definition:

Alternative IDs:

OMIM:208050

ParentIDs:

MESH:D007593|MESH:D012873|MESH:D054079

TreeNumbers:

C05.550.521/C565942 |C14.240.850/C565942 |C16.131.240.850/C565942 |C16.320.850/C565942 |C17.800.827/C565942

Synonyms:

Arterial Tortuosity |ATS

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease

Reference:

MedGen: C565942
MeSH: C565942
OMIM: 208050;

Genes: SLC2A10;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0001977	Abnormal thrombosis
4	HP:0001659	Aortic regurgitation
5	HP:0006687	Aortic tortuosity
6	HP:0001650	Aortic valve stenosis
7	HP:0001166	Arachnodactyly
8	HP:0000581	Blepharophimosis
9	HP:0000978	Bruising susceptibility
10	HP:0000776	Congenital diaphragmatic hernia
11	HP:0000444	Convex nasal ridge
12	HP:0000973	Cutis laxa
13	HP:0000494	Downslanted palpebral fissures
14	HP:0001371	Flexion contracture
15	HP:0004955	Generalized arterial tortuosity
16	HP:0001290	Generalized hypotonia
17	HP:0002036	Hiatus hernia
18	HP:0000218	High palate
19	HP:0000316	Hypertelorism
20	HP:0000822	Hypertension
21	HP:0001252	Hypotonia	HP:0040283
22	HP:0000023	Inguinal hernia
23	HP:0001249	Intellectual disability	HP:0040283
24	HP:0002140	Ischemic stroke
25	HP:0001388	Joint laxity
26	HP:0000563	Keratoconus	HP:0040283
27	HP:0000276	Long face
28	HP:0000343	Long philtrum
29	HP:0000347	Micrognathia
30	HP:0000768	Pectus carinatum
31	HP:0000767	Pectus excavatum
32	HP:0004415	Pulmonary artery stenosis
33	HP:0001027	Soft, doughy skin
34	HP:0007421	Telangiectases of the cheeks
35	HP:0001537	Umbilical hernia
36	HP:0001714	Ventricular hypertrophy

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_030777.3(SLC2A10):c.243C>G (p.Ser81Arg)	81031	SLC2A10	Pathogenic	80358230	RCV000004850;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45353918	45353918	NM_030777.3:c.243C>G	NP_110404.1:p.Ser81Arg	NC_000020.10:g.45353918C>G	OMIM Allelic Variant:606145.0004	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.313C>T (p.Arg105Cys)	81031	SLC2A10	Pathogenic;Uncertain significance	767864243	RCV000202447; RCV000197165; RCV000202814;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342; MedGen:CN169374; MedGen:CN221809	20	45353988	45353988	NM_030777.3:c.313C>T	NP_110404.1:p.Arg105Cys	NC_000020.10:g.45353988C>T	-	C1859726 208050 Arterial tortuosity syndrome; CN221809 not provided; CN169374 not specified
NM_030777.3(SLC2A10):c.366C>T (p.Tyr122=)	81031	SLC2A10	Benign	34990188	RCV000204064; RCV000128121;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342; MedGen:CN169374	20	45354041	45354041	NM_030777.3:c.366C>T	NP_110404.1:p.Tyr122=	NC_000020.10:g.45354041C>T	-	C1859726 208050 Arterial tortuosity syndrome; CN169374 not specified
NM_030777.3(SLC2A10):c.394C>T (p.Arg132Trp)	81031	SLC2A10	Pathogenic	121908173	RCV000004852;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45354069	45354069	NM_030777.3:c.394C>T	NP_110404.1:p.Arg132Trp	NC_000020.10:g.45354069C>T	OMIM Allelic Variant:606145.0006	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.417T>A (p.Tyr139Ter)	81031	SLC2A10	Pathogenic	572620317	RCV000202463;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45354092	45354092	NM_030777.3:c.417T>A	NP_110404.1:p.Tyr139Ter	NC_000020.10:g.45354092T>A	-	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.425G>T (p.Gly142Val)	81031	SLC2A10	Pathogenic	864309480	RCV000202496;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45354100	45354100	NM_030777.3:c.425G>T	NP_110404.1:p.Gly142Val	NC_000020.10:g.45354100G>T	-	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.510G>A (p.Trp170Ter)	81031	SLC2A10	Pathogenic	80358229	RCV000004847;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45354185	45354185	NM_030777.3:c.510G>A	NP_110404.1:p.Trp170Ter	NC_000020.10:g.45354185G>A	OMIM Allelic Variant:606145.0001	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.685C>T (p.Arg229Ter)	81031	SLC2A10	Pathogenic	756457861	RCV000202510;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45354360	45354360	NM_030777.3:c.685C>T	NP_110404.1:p.Arg229Ter	NC_000020.10:g.45354360C>T	-	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.691C>T (p.Arg231Trp)	81031	SLC2A10	Pathogenic	146579504	RCV000202453; RCV000195605;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342; MedGen:CN221809	20	45354366	45354366	NM_030777.3:c.691C>T	NP_110404.1:p.Arg231Trp	NC_000020.10:g.45354366C>T	-	C1859726 208050 Arterial tortuosity syndrome; CN221809 not provided
NM_030777.3(SLC2A10):c.692G>A (p.Arg231Gln)	81031	SLC2A10	Likely pathogenic;Pathogenic	771028960	RCV000185549;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45354367	45354367	NM_030777.3:c.692G>A	NP_110404.1:p.Arg231Gln	NC_000020.10:g.45354367G>A	-	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.730_733delCTAA (p.Leu244Glnfs)	81031	SLC2A10	Pathogenic	864309481	RCV000202501;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45354405	45354408	NM_030777.3:c.730_733delCTAA	NP_110404.1:p.Leu244Glnfs	NC_000020.10:g.45354405_45354408delCTAA	-	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.737G>A (p.Gly246Glu)	81031	SLC2A10	Pathogenic	564317065	RCV000202540;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45354412	45354412	NM_030777.3:c.737G>A	NP_110404.1:p.Gly246Glu	NC_000020.10:g.45354412G>A	-	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.756C>A (p.Cys252Ter)	81031	SLC2A10	Pathogenic	864309478	RCV000202459;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45354431	45354431	NM_030777.3:c.756C>A	NP_110404.1:p.Cys252Ter	NC_000020.10:g.45354431C>A	-	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.961delG (p.Val321Cysfs)	81031	SLC2A10	Pathogenic	587776599	RCV000004848;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45354636	45354636	NM_030777.3:c.961delG	NP_110404.1:p.Val321Cysfs		OMIM Allelic Variant:606145.0002	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.1276G>T (p.Gly426Trp)	81031	SLC2A10	Pathogenic	121908172	RCV000004851; RCV000199687;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342; MedGen:CN221809	20	45354951	45354951	NM_030777.3:c.1276G>T	NP_110404.1:p.Gly426Trp	NC_000020.10:g.45354951G>T	OMIM Allelic Variant:606145.0005	C1859726 208050 Arterial tortuosity syndrome; CN221809 not provided
NM_030777.3(SLC2A10):c.1288+10G>A	81031	SLC2A10	Benign	76315093	RCV000205809; RCV000128125;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342; MedGen:CN169374	20	45354973	45354973	NM_030777.3:c.1288+10G>A		NC_000020.10:g.45354973G>A	-	C1859726 208050 Arterial tortuosity syndrome; CN169374 not specified
NM_030777.3(SLC2A10):c.1309G>A (p.Glu437Lys)	81031	SLC2A10	Pathogenic	763220502	RCV000202526;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45355523	45355523	NM_030777.3:c.1309G>A	NP_110404.1:p.Glu437Lys	NC_000020.10:g.45355523G>A	-	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.1330C>T (p.Arg444Ter)	81031	SLC2A10	Pathogenic	370547023	RCV000202558;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45355544	45355544	NM_030777.3:c.1330C>T	NP_110404.1:p.Arg444Ter	NC_000020.10:g.45355544C>T	-	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.1334delG (p.Gly445Glufs)	81031	SLC2A10	Pathogenic	587776600	RCV000004849; RCV000197366;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342; MedGen:CN221809	20	45355548	45355548	NM_030777.3:c.1334delG	NP_110404.1:p.Gly445Glufs		OMIM Allelic Variant:606145.0003	C1859726 208050 Arterial tortuosity syndrome; CN221809 not provided
NM_030777.3(SLC2A10):c.1334G>A (p.Gly445Glu)	81031	SLC2A10	Pathogenic	753723351	RCV000202473;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45355548	45355548	NM_030777.3:c.1334G>A	NP_110404.1:p.Gly445Glu	NC_000020.10:g.45355548G>A	-	C1859726 208050 Arterial tortuosity syndrome
NM_030777.3(SLC2A10):c.1411+1G>A (p.Val430_I470del)	81031	SLC2A10	Pathogenic	864309479	RCV000202532;	N	MedGen:C1859726,OMIM:208050,ORPHA:3342	20	45355626	45355626	NM_030777.3:c.1411+1G>A	NP_110404.1:p.Val430_I470del	NC_000020.10:g.45355626G>A	-	C1859726 208050 Arterial tortuosity syndrome