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Hello! Guest! Please Login or Register! Clinician Mode

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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Aortic Aneurysm, Thoracic (D017545)
Parent Node: Loeys-Dietz Syndrome (D055947)
..Starting node ..Loeys-Dietz Syndrome, Type 1b (C567181)
Child Nodes:
Sister Nodes:
..Aortic aneurysm, familial thoracic 3 (C537783) 1
..Ascending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity (C531732)
..Loeys-Dietz Syndrome, Type 1b (C567181)
..Loeys-Dietz Syndrome, Type 2A (C567156)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6517

Name:

Loeys-Dietz Syndrome, Type 1b

Definition:

Alternative IDs:

ParentIDs:

MESH:D017545|MESH:D055947

TreeNumbers:

C05.660.207.532/C567181 |C14.907.055.050.362/C567181 |C14.907.055.239.125/C567181 |C14.907.055.239.587/C567181 |C14.907.109.139.125/C567181 |C14.907.109.139.587/C567181 |C16.131.077.537/C567181 |C16.320.510/C567181

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C567181
MeSH: C567181
OMIM: 610168;

Genes: TGFBR2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005807	Absent distal phalanges	HP:0040283
3	HP:0001166	Arachnodactyly
4	HP:0002308	Arnold-Chiari malformation	HP:0040283
5	HP:0004933	Ascending aortic dissection
6	HP:0004970	Ascending tubular aorta aneurysm
7	HP:0001631	Atrial septal defect	HP:0040283
8	HP:0001647	Bicuspid aortic valve	HP:0040283
9	HP:0005182	Bicuspid pulmonary valve	HP:0040283
10	HP:0000193	Bifid uvula
11	HP:0000592	Blue sclerae
12	HP:0001156	Brachydactyly
13	HP:0012385	Camptodactyly
14	HP:0000175	Cleft palate	HP:0040283
15	HP:0001363	Craniosynostosis	HP:0040283
16	HP:0010648	Dermal translucency
17	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283
18	HP:0004944	Dilatation of the cerebral artery	HP:0040283
19	HP:0001519	Disproportionate tall stature	HP:0040283
20	HP:0001083	Ectopia lentis
21	HP:0000577	Exotropia
22	HP:0004955	Generalized arterial tortuosity
23	HP:0001263	Global developmental delay	HP:0040283
24	HP:0001425	Heterogeneous
25	HP:0000238	Hydrocephalus	HP:0040283
26	HP:0000316	Hypertelorism
27	HP:0000023	Inguinal hernia	HP:0040283
28	HP:0001249	Intellectual disability	HP:0040283
29	HP:0009473	Joint contracture of the hand
30	HP:0001388	Joint laxity
31	HP:0000272	Malar flattening
32	HP:0000347	Micrognathia
33	HP:0001634	Mitral valve prolapse	HP:0040283
34	HP:0000939	Osteoporosis	HP:0040283
35	HP:0001643	Patent ductus arteriosus
36	HP:0000768	Pectus carinatum
37	HP:0000767	Pectus excavatum
38	HP:0001763	Pes planus
39	HP:0010442	Polydactyly	HP:0040283
40	HP:0100259	Postaxial polydactyly	HP:0040283
41	HP:0000520	Proptosis
42	HP:0003179	Protrusio acetabuli
43	HP:0004937	Pulmonary artery aneurysm
44	HP:0000278	Retrognathia
45	HP:0002650	Scoliosis
46	HP:0003302	Spondylolisthesis
47	HP:0002108	Spontaneous pneumothorax
48	HP:0001065	Striae distensae
49	HP:0001159	Syndactyly	HP:0040283
50	HP:0001762	Talipes equinovarus
51	HP:0001537	Umbilical hernia	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_003242.5(TGFBR2):c.923T>C (p.Leu308Pro)	7048	TGFBR2	Pathogenic	28934568	RCV000013329;	N	MedGen:C2674876,OMIM:610168	3	30713598	30713598	NM_003242.5:c.923T>C	NP_003233.4:p.Leu308Pro	NC_000003.11:g.30713598T>C	OMIM Allelic Variant:190182.0005	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1006T>A (p.Tyr336Asn)	7048	TGFBR2	Pathogenic	104893812	RCV000013332;	N	MedGen:C2674876,OMIM:610168	3	30713681	30713681	NM_003242.5:c.1006T>A	NP_003233.4:p.Tyr336Asn	NC_000003.11:g.30713681T>A	OMIM Allelic Variant:190182.0008	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1063G>C (p.Ala355Pro)	7048	TGFBR2	Pathogenic	104893813	RCV000013333;	N	MedGen:C2674876,OMIM:610168	3	30713738	30713738	NM_003242.5:c.1063G>C	NP_003233.4:p.Ala355Pro	NC_000003.11:g.30713738G>C	OMIM Allelic Variant:190182.0009	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1069G>T (p.Gly357Trp)	7048	TGFBR2	Pathogenic	104893814	RCV000013334;	N	MedGen:C2674876,OMIM:610168	3	30713744	30713744	NM_003242.5:c.1069G>T	NP_003233.4:p.Gly357Trp	NC_000003.11:g.30713744G>T	OMIM Allelic Variant:190182.0010	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1273A>G (p.Met425Val)	7048	TGFBR2	Pathogenic	104893817	RCV000013342;	N	MedGen:C2674876,OMIM:610168	3	30715615	30715615	NM_003242.5:c.1273A>G	NP_003233.4:p.Met425Val	NC_000003.11:g.30715615A>G	OMIM Allelic Variant:190182.0017	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1280C>T (p.Pro427Leu)	7048	TGFBR2	Pathogenic	104893818	RCV000013343;	N	MedGen:C2674876,OMIM:610168	3	30715622	30715622	NM_003242.5:c.1280C>T	NP_003233.4:p.Pro427Leu	NC_000003.11:g.30715622C>T	OMIM Allelic Variant:190182.0018	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1346C>T (p.Ser449Phe)	7048	TGFBR2	Pathogenic	104893807	RCV000013330;	N	MedGen:C2674876,OMIM:610168	3	30715688	30715688	NM_003242.5:c.1346C>T	NP_003233.4:p.Ser449Phe	NC_000003.11:g.30715688C>T	OMIM Allelic Variant:190182.0006	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1378C>T (p.Arg460Cys)	7048	TGFBR2	Pathogenic	104893811	RCV000013339; RCV000199227;	N	MedGen:C2674876,OMIM:610168; MedGen:CN221809	3	30715720	30715720	NM_003242.5:c.1378C>T	NP_003233.4:p.Arg460Cys	NC_000003.11:g.30715720C>T	OMIM Allelic Variant:190182.0014	C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided
NM_003242.5(TGFBR2):c.1379G>A (p.Arg460His)	7048	TGFBR2	Pathogenic	104893816	RCV000013340; RCV000196002;	N	MedGen:C2674876,OMIM:610168; MedGen:CN221809	3	30715721	30715721	NM_003242.5:c.1379G>A	NP_003233.4:p.Arg460His	NC_000003.11:g.30715721G>A	OMIM Allelic Variant:190182.0015	C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided
NM_001024847.2(TGFBR2):c.1472-2A>G	7048	TGFBR2	Pathogenic	587776770	RCV000013341;	N	MedGen:C2674876,OMIM:610168	3	30729874	30729874	NM_001024847.2:c.1472-2A>G		3:g.30729874A>G	OMIM Allelic Variant:190182.0016	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1408T>G (p.Tyr470Asp)	7048	TGFBR2	Likely pathogenic	863224935	RCV000197170;	N	MedGen:C2674876,OMIM:610168	3	30729887	30729887	NM_003242.5:c.1408T>G	NP_003233.4:p.Tyr470Asp	NC_000003.11:g.30729887T>G	-	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter)	7048	TGFBR2	Likely pathogenic;Pathogenic	104893819	RCV000013344; RCV000157519; RCV000195964;	N	MedGen:C2674876,OMIM:610168; MedGen:C2697932, Orphanet:ORPHA60030,SNOMED CT:446263001; MedGen:CN221809	3	30729962	30729962	NM_003242.5:c.1483C>T	NP_003233.4:p.Arg495Ter	NC_000003.11:g.30729962C>T	OMIM Allelic Variant:190182.0019	C2697932 Loeys-Dietz syndrome; C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided
NM_003242.5(TGFBR2):c.1524G>A (p.Gln508=)	7048	TGFBR2	Pathogenic	121918715	RCV000013327;	N	MedGen:C2674876,OMIM:610168	3	30730003	30730003	NM_003242.5:c.1524G>A	NP_003233.4:p.Gln508=	NC_000003.11:g.30730003G>A	OMIM Allelic Variant:190182.0004	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1582C>T (p.Arg528Cys)	7048	TGFBR2	Pathogenic	104893810	RCV000013337; RCV000197944;	N	MedGen:C2674876,OMIM:610168; MedGen:CN221809	3	30732969	30732969	NM_003242.5:c.1582C>T	NP_003233.4:p.Arg528Cys	NC_000003.11:g.30732969C>T	OMIM Allelic Variant:190182.0012	C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided
NM_003242.5(TGFBR2):c.1583G>A (p.Arg528His)	7048	TGFBR2	Pathogenic	104893815	RCV000013336; RCV000013335; RCV000211858; RCV000200178;	N	MedGen:C1860896,OMIM:614331; MedGen:C2674876,OMIM:610168; MedGen:C2697932, Orphanet:ORPHA60030,SNOMED CT:446263001; MedGen:CN221809	3	30732970	30732970	NM_003242.5:c.1583G>A	NP_003233.4:p.Arg528His	NC_000003.11:g.30732970G>A	OMIM Allelic Variant:190182.0011	C1860896 614331 Hereditary nonpolyposis colorectal cancer type 6; C2697932 Loeys-Dietz syndrome; C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided
NM_003242.5(TGFBR2):c.1609C>T (p.Arg537Cys)	7048	TGFBR2	Pathogenic	104893809	RCV000013331; RCV000196289;	N	MedGen:C2674876,OMIM:610168; MedGen:CN221809	3	30732996	30732996	NM_003242.5:c.1609C>T	NP_003233.4:p.Arg537Cys	NC_000003.11:g.30732996C>T	OMIM Allelic Variant:190182.0007	C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided