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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Aneurysm, Dissecting (D000784)
Parent Node: Aortic Aneurysm (D001014)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Genetic Diseases, Inborn (D030342)
..Starting node ..Loeys-Dietz Syndrome (D055947)
Child 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)
Sister Nodes:
..ACTH Deficiency, Isolated (C562707)
..Adrenal Hyperplasia, Congenital (D000312) 12
..Adrenocortical Hypofunction, Chronic Primary Congenital (C562711)
..Alagille Syndrome (D016738)
..alpha 1-Antitrypsin Deficiency (D019896) 1
..Alpha-2-Deficient Collagen Disease (C565963)
..Anemia, Hemolytic, Congenital (D000745) 68
..Anemia, Hypoplastic, Congenital (D029502) 27
..Angioedemas, Hereditary (D054179) 2
..Ataxia Telangiectasia (D001260) 6
..Atrial Standstill (C563984)
..Autoimmune Lymphoproliferative Syndrome (D056735) 5
..Blood Coagulation Disorders, Inherited (D025861) 70
..Brugada Syndrome (D053840) 9
..CADASIL (D046589) 1
..Camurati-Engelmann Syndrome (D003966) 4
..Cardiomyopathy, Hypertrophic, Familial (D024741) 15
..Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..CHARGE Syndrome (D058747)
..Cherubism (D002636) 2
..Chromosome Disorders (D025063) 160
..Cirrhosis, Familial (C566123)
..Complement Factor I Deficiency (C572568)
..Corticosteroid-Binding Globulin Deficiency (C565152)
..Costello Syndrome (D056685)
..Cryoglobulinemia, Familial Mixed (C565141)
..Cystic Fibrosis (D003550) 4
..Donohue Syndrome (D056731) 1
..Dwarfism (D004392) 155
..Epistaxis, Hereditary (C562751)
..Eye Diseases, Hereditary (D015785) 373
..Frasier Syndrome (D052159)
..Genetic Diseases, X-Linked (D040181) 412
..Genetic Diseases, Y-Linked (D050174) 5
..Hajdu-Cheney Syndrome (D031845) 1
..Hemoglobinopathies (D006453) 23
..Hepatic Fibrosis, Congenital (C562378)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Heredodegenerative Disorders, Nervous System (D020271) 543
..Histiocytosis, Familial Lipochrome (C562738)
..Hyper-IgM Immunodeficiency Syndrome (D053306) 3
..Hyperthyroxinemia, Familial Dysalbuminemic (D050010) 1
..Interstitial Pneumonitis, Desquamative, Familial (C562470)
..Kallmann Syndrome (D017436) 9
..Kartagener Syndrome (D007619) 6
..Lennox Gastaut Syndrome (D065768) 1
..Loeys-Dietz Syndrome (D055947) 5
..Marfan Syndrome (D008382) 9
..Metabolism, Inborn Errors (D008661) 886
..Muscular Dystrophies (D009136) 117
..Myasthenic Syndromes, Congenital (D020294) 15
..Nail-Patella Syndrome (D009261) 1
..Neoplastic Syndromes, Hereditary (D009386) 111
..Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteogenesis Imperfecta (D010013) 27
..Pain Insensitivity, Congenital (D000699) 2
..Parotidomegaly, Hereditary Bilateral (C566821)
..Pelger-Huet Anomaly (D010381)
..Platelet Glycoprotein IV Deficiency (C564245)
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Prolactin Deficiency, Isolated (C562708)
..Pulmonary Alveolar Microlithiasis (C562405)
..Pycnodysostosis (D058631)
..Rh Deficiency Syndrome (C562717)
..Skin Diseases, Genetic (D012873) 462
..Weill-Marchesani Syndrome (D056846)
..Werner Syndrome (D014898) 1
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6515

Name:

Loeys-Dietz Syndrome

Definition:

An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.

Alternative IDs:

OMIM:609192

ParentIDs:

MESH:D000015|MESH:D000784|MESH:D001014|MESH:D019465|MESH:D030342

TreeNumbers:

C05.660.207.532 |C14.907.055.050.362 |C14.907.055.239.587 |C14.907.109.139.587 |C16.131.077.537 |C16.320.510

Synonyms:

Slim Mappings:

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

Reference:

MedGen: D055947
MeSH: D055947
OMIM: 609192;

Genes: TGFBR1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000766	Abnormal sternum morphology	HP:0040282
3	HP:0001166	Arachnodactyly	HP:0040282
4	HP:0002308	Arnold-Chiari malformation	HP:0040283
5	HP:0004933	Ascending aortic dissection	HP:0040282
6	HP:0004970	Ascending tubular aorta aneurysm	HP:0040281
7	HP:0001631	Atrial septal defect	HP:0040284
8	HP:0001647	Bicuspid aortic valve
9	HP:0005182	Bicuspid pulmonary valve	HP:0040283
10	HP:0000193	Bifid uvula	HP:0040282
11	HP:0000592	Blue sclerae	HP:0040282
12	HP:0012385	Camptodactyly
13	HP:0000175	Cleft palate	HP:0040282
14	HP:0001363	Craniosynostosis	HP:0040282
15	HP:0010648	Dermal translucency
16	HP:0004959	Descending thoracic aorta aneurysm
17	HP:0004944	Dilatation of the cerebral artery
18	HP:0001519	Disproportionate tall stature	HP:0040283
19	HP:0000577	Exotropia
20	HP:0004955	Generalized arterial tortuosity	HP:0040282
21	HP:0001263	Global developmental delay	HP:0040284
22	HP:0001425	Heterogeneous
23	HP:0000238	Hydrocephalus	HP:0040283
24	HP:0000316	Hypertelorism	HP:0040281
25	HP:0001249	Intellectual disability
26	HP:0009473	Joint contracture of the hand	HP:0040282
27	HP:0001388	Joint laxity	HP:0040282
28	HP:0000272	Malar flattening	HP:0040282
29	HP:0000347	Micrognathia
30	HP:0001634	Mitral valve prolapse
31	HP:0001643	Patent ductus arteriosus	HP:0040284
32	HP:0001162	Postaxial hand polydactyly
33	HP:0000520	Proptosis	HP:0040282
34	HP:0004937	Pulmonary artery aneurysm
35	HP:0000278	Retrognathia	HP:0040282
36	HP:0002650	Scoliosis	HP:0040282
37	HP:0000977	Soft skin	HP:0040282
38	HP:0001762	Talipes equinovarus	HP:0040282

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_004612.3(TGFBR1):c.521G>T (p.Gly174Val)	7046	TGFBR1	Pathogenic	121918713	RCV000013353;	N	MedGen:C2697933,OMIM:609192	9	101894968	101894968	NM_004612.3:c.521G>T	NP_004603.1:p.Gly174Val	NC_000009.11:g.101894968G>T	OMIM Allelic Variant:190181.0008	C2697933 609192 Loeys-Dietz syndrome 1
NM_004612.3(TGFBR1):c.599C>T (p.Thr200Ile)	7046	TGFBR1	Pathogenic	121918712	RCV000013347;	N	MedGen:C2697933,OMIM:609192	9	101900165	101900165	NM_004612.3:c.599C>T	NP_004603.1:p.Thr200Ile	NC_000009.11:g.101900165C>T	OMIM Allelic Variant:190181.0003	C2697933 609192 Loeys-Dietz syndrome 1
NM_004612.3(TGFBR1):c.722C>T (p.Ser241Leu)	7046	TGFBR1	Pathogenic	111854391	RCV000013350; RCV000030540;	N	MedGen:C2697932, Orphanet:ORPHA60030,SNOMED CT:446263001; MedGen:C2697933,OMIM:609192	9	101900288	101900288	NM_004612.3:c.722C>T	NP_004603.1:p.Ser241Leu	NC_000009.11:g.101900288C>T	OMIM Allelic Variant:190181.0005	C2697932 Loeys-Dietz syndrome; C2697933 609192 Loeys-Dietz syndrome 1
NM_004612.3(TGFBR1):c.953T>G (p.Met318Arg)	7046	TGFBR1	Pathogenic	121918710	RCV000119102;	N	MedGen:C2697933,OMIM:609192	9	101904965	101904965	NM_004612.3:c.953T>G	NP_004603.1:p.Met318Arg	NC_000009.11:g.101904965T>G	OMIM Allelic Variant:190181.0001	C2697933 609192 Loeys-Dietz syndrome 1
NM_004612.3(TGFBR1):c.1199A>G (p.Asp400Gly)	7046	TGFBR1	Pathogenic	121918711	RCV000013346;	N	MedGen:C2697933,OMIM:609192	9	101908835	101908835	NM_004612.3:c.1199A>G	NP_004603.1:p.Asp400Gly	NC_000009.11:g.101908835A>G	OMIM Allelic Variant:190181.0002	C2697933 609192 Loeys-Dietz syndrome 1
NM_004612.3(TGFBR1):c.1433A>G (p.Asn478Ser)	7046	TGFBR1	Uncertain significance	141259922	RCV000148890; RCV000199866;	N	MedGen:C2697933,OMIM:609192; MedGen:CN169374	9	101911508	101911508	NM_004612.3:c.1433A>G	NP_004603.1:p.Asn478Ser	NC_000009.11:g.101911508A>G	-	C2697933 609192 Loeys-Dietz syndrome 1; CN169374 not specified
NM_004612.3(TGFBR1):c.1459C>T (p.Arg487Trp)	7046	TGFBR1	Pathogenic	111426349	RCV000013352; RCV000211856; RCV000200764;	N	MedGen:C2697932, Orphanet:ORPHA60030,SNOMED CT:446263001; MedGen:C2697933,OMIM:609192; MedGen:CN221809	9	101911534	101911534	NM_004612.3:c.1459C>T	NP_004603.1:p.Arg487Trp	NC_000009.11:g.101911534C>T	OMIM Allelic Variant:190181.0007	C2697932 Loeys-Dietz syndrome; C2697933 609192 Loeys-Dietz syndrome 1; CN221809 not provided
NM_004612.3(TGFBR1):c.1460G>C (p.Arg487Pro)	7046	TGFBR1	Pathogenic	113605875	RCV000013348;	N	MedGen:C2697933,OMIM:609192	9	101911535	101911535	NM_004612.3:c.1460G>C	NP_004603.1:p.Arg487Pro	NC_000009.11:g.101911535G>A,NC_000009.11:g.101911535G>C	OMIM Allelic Variant:190181.0004	C2697933 609192 Loeys-Dietz syndrome 1
NM_004612.3(TGFBR1):c.1460G>A (p.Arg487Gln)	7046	TGFBR1	Pathogenic	113605875	RCV000013351; RCV000211857; RCV000196834;	N	MedGen:C2697932, Orphanet:ORPHA60030,SNOMED CT:446263001; MedGen:C2697933,OMIM:609192; MedGen:CN221809	9	101911535	101911535	NM_004612.3:c.1460G>A	NP_004603.1:p.Arg487Gln	NC_000009.11:g.101911535G>A,NC_000009.11:g.101911535G>C	OMIM Allelic Variant:190181.0006	C2697932 Loeys-Dietz syndrome; C2697933 609192 Loeys-Dietz syndrome 1; CN221809 not provided
NM_001024847.2(TGFBR2):c.1060G>A (p.Ala354Thr)	7048	TGFBR2	Uncertain significance	148665451	RCV000148892; RCV000198010;	N	MedGen:C2697933,OMIM:609192; MedGen:CN169374	3	30713660	30713660	NM_001024847.2:c.1060G>A	NP_001020018.1:p.Ala354Thr	NC_000003.11:g.30713660G>A	-	C2697933 609192 Loeys-Dietz syndrome 1; CN169374 not specified