Loeys-Dietz Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LDS2 MCID: LYS018 MIFTS: 42	Loeys-Dietz Syndrome 2 (LDS2) Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Loeys-Dietz Syndrome 2

MalaCards integrated aliases for Loeys-Dietz Syndrome 2:

Name: Loeys-Dietz Syndrome 2 ⁵⁸ ¹² ⁵⁴ ⁷⁶ ³⁰ ⁶ ¹⁵

Marfan Syndrome Type 2 ⁶⁰ ⁷⁶ ³⁰ ⁷⁴

Lds2 ⁵⁸ ¹² ⁷⁶

Aat3 ⁵⁸ ¹² ⁷⁶

Aortic Aneurysm, Familial Thoracic 3 ⁵⁸ ⁷⁴

Loeys-Dietz Syndrome Type 2 ⁵⁴ ⁷⁴

Marfan Syndrome Type Ii ¹² ⁷⁷

Mfs2 ⁶⁰ ⁷⁶

Aortic Aneurysm, Familial Thoracic 3; Aat3 ⁵⁸

Thoracic Aortic Aneurysms and Dissection 2 ⁷⁶

Familial Aortic Aneurysm Thoracic Type 3 ⁷⁶

Familial Throacic Aortic Aneurysm 3 ¹²

Marfan Syndrome, Type Ii, Formerly ⁵⁸

Syndrome, Loeys-Dietz, Type 2 ⁴¹

Taad2 ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

marfan syndrome type 2
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
uncommon and rare features seen in the most severely affected patients

HPO:

³³

loeys-dietz syndrome 2:
Inheritance heterogeneous autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Cardiovascular diseases Bone diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Marfan syndrome

Orphanet: ⁶⁰

Rare eye diseases

Rare circulatory system diseases

Rare systemic and rhumatological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0070234

OMIM ⁵⁸ 610168

MeSH ⁴⁵ D055947

ICD10 via Orphanet ³⁵ Q87.4

UMLS via Orphanet ⁷⁵ C2931058

Orphanet ⁶⁰ ORPHA284973

MedGen ⁴³ C2674574 C2674876

SNOMED-CT via HPO ⁷⁰ 111266001 128608001 18265008 more

UMLS ⁷⁴ C2674574 C2931058 C3898580

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Summaries for Loeys-Dietz Syndrome 2

UniProtKB/Swiss-Prot : ⁷⁶ Loeys-Dietz syndrome 2: An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit.

MalaCards based summary : Loeys-Dietz Syndrome 2, also known as marfan syndrome type 2, is related to loeys-dietz syndrome and subclavian artery aneurysm. An important gene associated with Loeys-Dietz Syndrome 2 is TGFBR2 (Transforming Growth Factor Beta Receptor 2). Affiliated tissues include skin, brain and spleen, and related phenotypes are hydrocephalus and intellectual disability

Disease Ontology : ¹² A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.

Wikipedia : ⁷⁷ Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features... more...

Description from OMIM: 610168

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Related Diseases for Loeys-Dietz Syndrome 2

Diseases in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1	Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3	Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5

Diseases related to Loeys-Dietz Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	loeys-dietz syndrome	31.8	MYH11 TGFBR2 TMPO
2	subclavian artery aneurysm	9.9	MYH11 TGFBR2
3	marfan syndrome	9.9
4	loeys-dietz syndrome 3	9.9	MYH11 TGFBR2
5	aortic aneurysm, familial thoracic 1	9.9	MYH11 TGFBR2
6	aortic aneurysm	9.8	MYH11 TGFBR2
7	aortic disease	9.7	MYH11 TGFBR2
8	loeys-dietz syndrome 1	9.6	GPT2 MYH11 TGFBR2

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 2:

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Symptoms & Phenotypes for Loeys-Dietz Syndrome 2

Human phenotypes related to Loeys-Dietz Syndrome 2:

³³ (show all 49)

#	Description	HPO Frequency	HPO Source Accession
1	hydrocephalus ³³	occasional (7.5%)	HP:0000238
2	intellectual disability ³³	occasional (7.5%)	HP:0001249
3	inguinal hernia ³³	occasional (7.5%)	HP:0000023
4	global developmental delay ³³	occasional (7.5%)	HP:0001263
5	umbilical hernia ³³	occasional (7.5%)	HP:0001537
6	osteoporosis ³³	occasional (7.5%)	HP:0000939
7	cleft palate ³³	occasional (7.5%)	HP:0000175
8	atrial septal defect ³³	occasional (7.5%)	HP:0001631
9	bicuspid aortic valve ³³	occasional (7.5%)	HP:0001647
10	mitral valve prolapse ³³	occasional (7.5%)	HP:0001634
11	arnold-chiari malformation ³³	occasional (7.5%)	HP:0002308
12	disproportionate tall stature ³³	occasional (7.5%)	HP:0001519
13	craniosynostosis ³³	occasional (7.5%)	HP:0001363
14	syndactyly ³³	occasional (7.5%)	HP:0001159
15	dilatation of the cerebral artery ³³	occasional (7.5%)	HP:0004944
16	absent distal phalanges ³³	occasional (7.5%)	HP:0005807
17	postaxial polydactyly ³³	occasional (7.5%)	HP:0100259
18	polydactyly ³³	occasional (7.5%)	HP:0010442
19	descending thoracic aorta aneurysm ³³	occasional (7.5%)	HP:0004959
20	bicuspid pulmonary valve ³³	occasional (7.5%)	HP:0005182
21	malar flattening ³³		HP:0000272
22	hypertelorism ³³		HP:0000316
23	pectus excavatum ³³		HP:0000767
24	scoliosis ³³		HP:0002650
25	pectus carinatum ³³		HP:0000768
26	pes planus ³³		HP:0001763
27	micrognathia ³³		HP:0000347
28	retrognathia ³³		HP:0000278
29	patent ductus arteriosus ³³		HP:0001643
30	joint laxity ³³		HP:0001388
31	talipes equinovarus ³³		HP:0001762
32	striae distensae ³³		HP:0001065
33	arachnodactyly ³³		HP:0001166
34	spontaneous pneumothorax ³³		HP:0002108
35	protrusio acetabuli ³³		HP:0003179
36	spondylolisthesis ³³		HP:0003302
37	ascending aortic dissection ³³		HP:0004933
38	brachydactyly ³³		HP:0001156
39	proptosis ³³		HP:0000520
40	blue sclerae ³³		HP:0000592
41	bifid uvula ³³		HP:0000193
42	camptodactyly ³³		HP:0012385
43	exotropia ³³		HP:0000577
44	dermal translucency ³³		HP:0010648
45	joint contracture of the hand ³³		HP:0009473
46	pulmonary artery aneurysm ³³		HP:0004937
47	ascending tubular aorta aneurysm ³³		HP:0004970
48	generalized arterial tortuosity ³³		HP:0004955
49	eosinophilic infiltration of the esophagus ³³		HP:0410151

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Head And Neck Face:
micrognathia
retrognathia

Skeletal:
joint laxity
osteoporosis (in some patients)
low-impact fractures (in some patients)

Skeletal Hands:
arachnodactyly
brachydactyly
camptodactyly
contractures
postaxial polydactyly (rare)
more

Neurologic Central Nervous System:
mental retardation (uncommon)
developmental delay (uncommon)
chiari malformation (uncommon)
hydrocephalus (uncommon)

Abdomen External Features:
umbilical hernia (rare)
inguinal hernia (rare)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skin Nails Hair Skin:
velvety texture
translucent skin

Skeletal Spine:
scoliosis

Cardiovascular Vascular:
patent ductus arteriosus
ascending aortic dissection
pulmonary artery aneurysm
ascending aortic aneurysm
arterial tortuosity, generalized
more

Skeletal Feet:
talipes equinovarus

Head And Neck Mouth:
bifid uvula
cleft palate (uncommon)

Skeletal Skull:
malar hypoplasia
craniosynostosis (uncommon)

Cardiovascular Heart:
atrial septal defect (uncommon)
mitral valve prolapse (uncommon)
bicuspid aortic valve (uncommon)
bicuspid pulmonary valve (rare)
quadricuspid pulmonary valve (rare)

Growth Other:
dolichostenomelia (uncommon)

Clinical features from OMIM:

610168

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00107-A-1	9.7	TGFBR2
2	Decreased viability	GR00221-A-1	9.7	TGFBR2 TRIO ULK1
3	Decreased viability	GR00221-A-2	9.7	TRIO
4	Decreased viability	GR00221-A-3	9.7	TGFBR2
5	Decreased viability	GR00221-A-4	9.7	TGFBR2 TRIO ULK1
6	Decreased viability	GR00402-S-2	9.7	TGFBR2 TRIO ULK1
7	Decreased vesicular stomatitis virus (VSV) infection	GR00356-A-1	8.96	TRIO ULK1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 2:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.1	GPT2 MYH11 TGFBR2 TMPO TRIO ULK1

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Drugs & Therapeutics for Loeys-Dietz Syndrome 2

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 2

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Genetic Tests for Loeys-Dietz Syndrome 2

Genetic tests related to Loeys-Dietz Syndrome 2:

#	Genetic test	Affiliating Genes
1	Loeys-Dietz Syndrome 2 ³⁰
2	Marfan Syndrome Type 2 ³⁰

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Anatomical Context for Loeys-Dietz Syndrome 2

MalaCards organs/tissues related to Loeys-Dietz Syndrome 2:

⁴²

Skin, Brain, Spleen, Uterus, Bone, Eye

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Publications for Loeys-Dietz Syndrome 2

Articles related to Loeys-Dietz Syndrome 2:

#	Title	Authors	Year
1	Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. ( 8946175 )	Collod G....Boileau C.	1996

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Genes for Loeys-Dietz Syndrome 2

Genes related to Loeys-Dietz Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	1585.02	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	15235604 8317497 20301312 (more) 23788249 25356965 27854360 20358619 15731757 9927040 12821554 16027248 16251899 16885183 16333834 16928994 16799921 28225382
2	TMPO	Thymopoietin	Protein Coding	19.62	GeneCards inferred via : Variants (show sections)
3	GPT2	Glutamic--Pyruvic Transaminase 2	Protein Coding	17.92	DISEASES inferred ¹⁵
4	MYH11	Myosin Heavy Chain 11	Protein Coding	16.08	DISEASES inferred ¹⁵
5	ULK1	Unc-51 Like Autophagy Activating Kinase 1	Protein Coding	15.88	DISEASES inferred ¹⁵
6	TRIO	Trio Rho Guanine Nucleotide Exchange Factor	Protein Coding	15.79	DISEASES inferred ¹⁵

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Variations for Loeys-Dietz Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 2:

⁷⁶ (show all 23)

#	Symbol	AA change	Variation ID	SNP ID
1	TGFBR2	p.Leu308Pro	VAR_022351	rs28934568
2	TGFBR2	p.Tyr336Asn	VAR_022352	rs104893812
3	TGFBR2	p.Ala355Pro	VAR_022353	rs104893813
4	TGFBR2	p.Gly357Trp	VAR_022354	rs104893814
5	TGFBR2	p.Ser449Phe	VAR_022358	rs104893807
6	TGFBR2	p.Arg528Cys	VAR_022360	rs104893810
7	TGFBR2	p.Arg528His	VAR_022361	rs104893815
8	TGFBR2	p.Arg537Cys	VAR_022362	rs104893809
9	TGFBR2	p.Arg460Cys	VAR_029760	rs104893811
10	TGFBR2	p.Arg460His	VAR_029761	rs104893816
11	TGFBR2	p.His377Arg	VAR_066724
12	TGFBR2	p.Asp446Asn	VAR_066725	rs886039551
13	TGFBR2	p.Met457Lys	VAR_066726
14	TGFBR2	p.Gly509Val	VAR_066727	rs863223853
15	TGFBR2	p.Ile510Phe	VAR_066728
16	TGFBR2	p.Ile510Ser	VAR_066729
17	TGFBR2	p.Cys514Arg	VAR_066730	rs193922664
18	TGFBR2	p.Trp521Arg	VAR_066731
19	TGFBR2	p.Arg190His	VAR_076167	rs780542125
20	TGFBR2	p.Asp247Val	VAR_076168	rs761231369
21	TGFBR2	p.Thr325Pro	VAR_076169
22	TGFBR2	p.Gly357Arg	VAR_076170
23	TGFBR2	p.Thr530Ile	VAR_076171

ClinVar genetic disease variations for Loeys-Dietz Syndrome 2:

⁶ (show top 50) (show all 169)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TGFBR2	NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro)	single nucleotide variant	Pathogenic	rs727504292	GRCh37	Chromosome 3, 30713742: 30713742
2	TGFBR2	NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro)	single nucleotide variant	Pathogenic	rs727504292	GRCh38	Chromosome 3, 30672250: 30672250
3	TMPO	NM_003276.2(TMPO): c.1309G> C (p.Val437Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145703021	GRCh37	Chromosome 12, 98927344: 98927344
4	TMPO	NM_003276.2(TMPO): c.1309G> C (p.Val437Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145703021	GRCh38	Chromosome 12, 98533566: 98533566
5	TMPO	NM_003276.2(TMPO): c.225G> A (p.Pro75=)	single nucleotide variant	Benign	rs59027673	GRCh37	Chromosome 12, 98909870: 98909870
6	TMPO	NM_003276.2(TMPO): c.225G> A (p.Pro75=)	single nucleotide variant	Benign	rs59027673	GRCh38	Chromosome 12, 98516092: 98516092
7	TMPO	NM_003276.2(TMPO): c.686C> T (p.Thr229Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138790561	GRCh37	Chromosome 12, 98926721: 98926721
8	TMPO	NM_003276.2(TMPO): c.686C> T (p.Thr229Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138790561	GRCh38	Chromosome 12, 98532943: 98532943
9	TMPO	NM_003276.2(TMPO): c.1429G> A (p.Ala477Thr)	single nucleotide variant	Uncertain significance	rs34301677	GRCh37	Chromosome 12, 98927464: 98927464
10	TMPO	NM_003276.2(TMPO): c.1429G> A (p.Ala477Thr)	single nucleotide variant	Uncertain significance	rs34301677	GRCh38	Chromosome 12, 98533686: 98533686
11	TMPO	NM_003276.2(TMPO): c.248C> T (p.Ala83Val)	single nucleotide variant	Uncertain significance	rs730880228	GRCh38	Chromosome 12, 98516115: 98516115
12	TMPO	NM_003276.2(TMPO): c.248C> T (p.Ala83Val)	single nucleotide variant	Uncertain significance	rs730880228	GRCh37	Chromosome 12, 98909893: 98909893
13	TMPO	NM_003276.2(TMPO): c.1066A> G (p.Lys356Glu)	single nucleotide variant	Uncertain significance	rs730880229	GRCh38	Chromosome 12, 98533323: 98533323
14	TMPO	NM_003276.2(TMPO): c.1066A> G (p.Lys356Glu)	single nucleotide variant	Uncertain significance	rs730880229	GRCh37	Chromosome 12, 98927101: 98927101
15	TMPO	NM_003276.2(TMPO): c.1277C> T (p.Pro426Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141443652	GRCh38	Chromosome 12, 98533534: 98533534
16	TMPO	NM_003276.2(TMPO): c.1277C> T (p.Pro426Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141443652	GRCh37	Chromosome 12, 98927312: 98927312
17	TMPO	NM_003276.2(TMPO): c.350A> G (p.Asn117Ser)	single nucleotide variant	Likely benign	rs141387097	GRCh37	Chromosome 12, 98921734: 98921734
18	TMPO	NM_003276.2(TMPO): c.350A> G (p.Asn117Ser)	single nucleotide variant	Likely benign	rs141387097	GRCh38	Chromosome 12, 98527956: 98527956
19	TMPO	NM_003276.2(TMPO): c.1198A> G (p.Met400Val)	single nucleotide variant	Uncertain significance	rs771185259	GRCh37	Chromosome 12, 98927233: 98927233
20	TMPO	NM_003276.2(TMPO): c.1198A> G (p.Met400Val)	single nucleotide variant	Uncertain significance	rs771185259	GRCh38	Chromosome 12, 98533455: 98533455
21	TGFBR2	NM_003242.5(TGFBR2): c.1489C> T (p.Arg497Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs863223852	GRCh38	Chromosome 3, 30688476: 30688476
22	TGFBR2	NM_003242.5(TGFBR2): c.1489C> T (p.Arg497Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs863223852	GRCh37	Chromosome 3, 30729968: 30729968
23	TGFBR2	NM_003242.5(TGFBR2): c.1546A> T (p.Thr516Ser)	single nucleotide variant	Uncertain significance	rs370708687	GRCh38	Chromosome 3, 30691441: 30691441
24	TGFBR2	NM_003242.5(TGFBR2): c.1546A> T (p.Thr516Ser)	single nucleotide variant	Uncertain significance	rs370708687	GRCh37	Chromosome 3, 30732933: 30732933
25	TGFBR2	NM_003242.5(TGFBR2): c.1408T> G (p.Tyr470Asp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs863224935	GRCh37	Chromosome 3, 30729887: 30729887
26	TGFBR2	NM_003242.5(TGFBR2): c.1408T> G (p.Tyr470Asp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs863224935	GRCh38	Chromosome 3, 30688395: 30688395
27	TGFBR2	NM_001024847.2(TGFBR2): c.1599G> A (p.Gln533=)	single nucleotide variant	Pathogenic	rs121918715	GRCh37	Chromosome 3, 30730003: 30730003
28	TGFBR2	NM_001024847.2(TGFBR2): c.1599G> A (p.Gln533=)	single nucleotide variant	Pathogenic	rs121918715	GRCh38	Chromosome 3, 30688511: 30688511
29	TGFBR2	NM_003242.5(TGFBR2): c.923T> C (p.Leu308Pro)	single nucleotide variant	Pathogenic	rs28934568	GRCh37	Chromosome 3, 30713598: 30713598
30	TGFBR2	NM_003242.5(TGFBR2): c.923T> C (p.Leu308Pro)	single nucleotide variant	Pathogenic	rs28934568	GRCh38	Chromosome 3, 30672106: 30672106
31	TGFBR2	NM_003242.5(TGFBR2): c.1346C> T (p.Ser449Phe)	single nucleotide variant	Pathogenic	rs104893807	GRCh37	Chromosome 3, 30715688: 30715688
32	TGFBR2	NM_003242.5(TGFBR2): c.1346C> T (p.Ser449Phe)	single nucleotide variant	Pathogenic	rs104893807	GRCh38	Chromosome 3, 30674196: 30674196
33	TGFBR2	NM_003242.5(TGFBR2): c.1609C> T (p.Arg537Cys)	single nucleotide variant	Pathogenic	rs104893809	GRCh37	Chromosome 3, 30732996: 30732996
34	TGFBR2	NM_003242.5(TGFBR2): c.1609C> T (p.Arg537Cys)	single nucleotide variant	Pathogenic	rs104893809	GRCh38	Chromosome 3, 30691504: 30691504
35	TGFBR2	NM_003242.5(TGFBR2): c.1006T> A (p.Tyr336Asn)	single nucleotide variant	Pathogenic	rs104893812	GRCh37	Chromosome 3, 30713681: 30713681
36	TGFBR2	NM_003242.5(TGFBR2): c.1006T> A (p.Tyr336Asn)	single nucleotide variant	Pathogenic	rs104893812	GRCh38	Chromosome 3, 30672189: 30672189
37	TGFBR2	NM_003242.5(TGFBR2): c.1063G> C (p.Ala355Pro)	single nucleotide variant	Pathogenic	rs104893813	GRCh37	Chromosome 3, 30713738: 30713738
38	TGFBR2	NM_003242.5(TGFBR2): c.1063G> C (p.Ala355Pro)	single nucleotide variant	Pathogenic	rs104893813	GRCh38	Chromosome 3, 30672246: 30672246
39	TGFBR2	NM_003242.5(TGFBR2): c.1069G> T (p.Gly357Trp)	single nucleotide variant	Pathogenic	rs104893814	GRCh37	Chromosome 3, 30713744: 30713744
40	TGFBR2	NM_003242.5(TGFBR2): c.1069G> T (p.Gly357Trp)	single nucleotide variant	Pathogenic	rs104893814	GRCh38	Chromosome 3, 30672252: 30672252
41	TGFBR2	NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His)	single nucleotide variant	Pathogenic	rs104893815	GRCh37	Chromosome 3, 30732970: 30732970
42	TGFBR2	NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His)	single nucleotide variant	Pathogenic	rs104893815	GRCh38	Chromosome 3, 30691478: 30691478
43	TGFBR2	NM_003242.5(TGFBR2): c.1582C> T (p.Arg528Cys)	single nucleotide variant	Pathogenic	rs104893810	GRCh37	Chromosome 3, 30732969: 30732969
44	TGFBR2	NM_003242.5(TGFBR2): c.1582C> T (p.Arg528Cys)	single nucleotide variant	Pathogenic	rs104893810	GRCh38	Chromosome 3, 30691477: 30691477
45	TGFBR2	TGFBR2, IVS1, A-G, -2	single nucleotide variant	Pathogenic
46	TGFBR2	NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys)	single nucleotide variant	Pathogenic	rs104893811	GRCh37	Chromosome 3, 30715720: 30715720
47	TGFBR2	NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys)	single nucleotide variant	Pathogenic	rs104893811	GRCh38	Chromosome 3, 30674228: 30674228
48	TGFBR2	NM_003242.5(TGFBR2): c.1379G> A (p.Arg460His)	single nucleotide variant	Pathogenic	rs104893816	GRCh37	Chromosome 3, 30715721: 30715721
49	TGFBR2	NM_003242.5(TGFBR2): c.1379G> A (p.Arg460His)	single nucleotide variant	Pathogenic	rs104893816	GRCh38	Chromosome 3, 30674229: 30674229
50	TGFBR2	NM_001024847.2(TGFBR2): c.1472-2A> G	single nucleotide variant	Pathogenic	rs587776770	GRCh37	Chromosome 3, 30729874: 30729874

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Expression for Loeys-Dietz Syndrome 2

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 2.

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Pathways for Loeys-Dietz Syndrome 2

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GO Terms for Loeys-Dietz Syndrome 2

Biological processes related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphorylation	GO:0016310	9.33	TGFBR2 TRIO ULK1
2	peptidyl-serine phosphorylation	GO:0018105	9.26	TGFBR2 ULK1
3	protein phosphorylation	GO:0006468	9.13	TGFBR2 TRIO ULK1
4	peptidyl-threonine phosphorylation	GO:0018107	8.62	TGFBR2 ULK1

Molecular functions related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transferase activity	GO:0016740	9.56	GPT2 TGFBR2 TRIO ULK1
2	kinase activity	GO:0016301	9.5	TGFBR2 TRIO ULK1
3	protein kinase activity	GO:0004672	9.33	TGFBR2 TRIO ULK1
4	ATP binding	GO:0005524	9.26	MYH11 TGFBR2 TRIO ULK1
5	protein serine/threonine kinase activity	GO:0004674	8.8	TGFBR2 TRIO ULK1

Sources

Sources for Loeys-Dietz Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Loeys-Dietz Syndrome 2 (LDS2)

Aliases & Classifications for Loeys-Dietz Syndrome 2

MalaCards integrated aliases for Loeys-Dietz Syndrome 2:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Loeys-Dietz Syndrome 2

Related Diseases for Loeys-Dietz Syndrome 2

Diseases in the Loeys-Dietz Syndrome family:

Diseases related to Loeys-Dietz Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 2:

Symptoms & Phenotypes for Loeys-Dietz Syndrome 2

Human phenotypes related to Loeys-Dietz Syndrome 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 2:

Drugs & Therapeutics for Loeys-Dietz Syndrome 2

Genetic Tests for Loeys-Dietz Syndrome 2

Genetic tests related to Loeys-Dietz Syndrome 2:

Anatomical Context for Loeys-Dietz Syndrome 2

MalaCards organs/tissues related to Loeys-Dietz Syndrome 2:

Publications for Loeys-Dietz Syndrome 2

Articles related to Loeys-Dietz Syndrome 2:

Genes for Loeys-Dietz Syndrome 2

Genes related to Loeys-Dietz Syndrome 2 (1 elite genes):

Variations for Loeys-Dietz Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 2:

ClinVar genetic disease variations for Loeys-Dietz Syndrome 2:

Expression for Loeys-Dietz Syndrome 2

Pathways for Loeys-Dietz Syndrome 2

GO Terms for Loeys-Dietz Syndrome 2

Biological processes related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

Molecular functions related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Loeys-Dietz Syndrome 2