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

MCID: LYS018 MIFTS: 35	Loeys-Dietz Syndrome 2 Categories: Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download 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 ⁵⁷ ⁵³ ⁷⁵ ²⁹ ⁶

Marfan Syndrome Type 2 ⁵⁹ ⁷⁵ ²⁹ ⁷³

Aortic Aneurysm, Familial Thoracic 3 ⁵⁷ ⁷³

Loeys-Dietz Syndrome Type 2 ⁵³ ⁷³

Lds2 ⁵⁷ ⁷⁵

Aat3 ⁵⁷ ⁷⁵

Mfs2 ⁵⁹ ⁷⁵

Aortic Aneurysm, Familial Thoracic 3; Aat3 ⁵⁷

Thoracic Aortic Aneurysms and Dissection 2 ⁷⁵

Familial Aortic Aneurysm Thoracic Type 3 ⁷⁵

Marfan Syndrome, Type Ii, Formerly ⁵⁷

Syndrome, Loeys-Dietz, Type 2 ⁴⁰

Taad2 ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Marfan syndrome

Orphanet: ⁵⁹

Rare eye diseases

Rare circulatory system diseases

Rare systemic and rhumatological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 610168

Orphanet ⁵⁹ ORPHA284973

UMLS via Orphanet ⁷⁴ C2931058

ICD10 via Orphanet ³⁴ Q87.4

MedGen ⁴² C2674574 C2674876

MeSH ⁴⁴ D055947

SNOMED-CT via HPO ⁶⁹ 263681008 396232000 63567004 more

UMLS ⁷³ C2674574 C3898580 C2931058

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Summaries for Loeys-Dietz Syndrome 2

UniProtKB/Swiss-Prot : ⁷⁵ 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 aortic aneurysm, familial thoracic 1. 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 malar flattening and hypertelorism

Description from OMIM: 610168

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Related Diseases for Loeys-Dietz Syndrome 2

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	30.3	TGFBR2 TMPO
2	aortic aneurysm, familial thoracic 1	9.9
3	aortic aneurysm	9.9
4	familial thoracic aortic aneurysm and dissection	9.9
5	aneurysm	9.9
6	marfan syndrome	9.7

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

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Symptoms & Phenotypes for Loeys-Dietz Syndrome 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Head And Neck Face:
micrognathia
retrognathia

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

Skeletal Feet:
talipes equinovarus

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

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

Growth Other:
dolichostenomelia (uncommon)

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

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)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Clinical features from OMIM:

610168

Human phenotypes related to Loeys-Dietz Syndrome 2:

³² (show all 49)

#	Description	HPO Frequency	HPO Source Accession
1	malar flattening ³²		HP:0000272
2	hypertelorism ³²		HP:0000316
3	pectus excavatum ³²		HP:0000767
4	hydrocephalus ³²	occasional (7.5%)	HP:0000238
5	intellectual disability ³²	occasional (7.5%)	HP:0001249
6	scoliosis ³²		HP:0002650
7	inguinal hernia ³²	occasional (7.5%)	HP:0000023
8	global developmental delay ³²	occasional (7.5%)	HP:0001263
9	pectus carinatum ³²		HP:0000768
10	umbilical hernia ³²	occasional (7.5%)	HP:0001537
11	pes planus ³²		HP:0001763
12	osteoporosis ³²	occasional (7.5%)	HP:0000939
13	cleft palate ³²	occasional (7.5%)	HP:0000175
14	micrognathia ³²		HP:0000347
15	retrognathia ³²		HP:0000278
16	patent ductus arteriosus ³²		HP:0001643
17	atrial septal defect ³²	occasional (7.5%)	HP:0001631
18	bicuspid aortic valve ³²	occasional (7.5%)	HP:0001647
19	arnold-chiari malformation ³²	occasional (7.5%)	HP:0002308
20	striae distensae ³²		HP:0001065
21	arachnodactyly ³²		HP:0001166
22	disproportionate tall stature ³²	occasional (7.5%)	HP:0001519
23	spontaneous pneumothorax ³²		HP:0002108
24	ectopia lentis ³²		HP:0001083
25	mitral valve prolapse ³²	occasional (7.5%)	HP:0001634
26	protrusio acetabuli ³²		HP:0003179
27	spondylolisthesis ³²		HP:0003302
28	ascending aortic dissection ³²		HP:0004933
29	brachydactyly ³²		HP:0001156
30	joint laxity ³²		HP:0001388
31	talipes equinovarus ³²		HP:0001762
32	proptosis ³²		HP:0000520
33	craniosynostosis ³²	occasional (7.5%)	HP:0001363
34	blue sclerae ³²		HP:0000592
35	bifid uvula ³²		HP:0000193
36	camptodactyly ³²		HP:0012385
37	syndactyly ³²	occasional (7.5%)	HP:0001159
38	exotropia ³²		HP:0000577
39	dermal translucency ³²		HP:0010648
40	absent distal phalanges ³²	occasional (7.5%)	HP:0005807
41	joint contracture of the hand ³²		HP:0009473
42	pulmonary artery aneurysm ³²		HP:0004937
43	postaxial polydactyly ³²	occasional (7.5%)	HP:0100259
44	polydactyly ³²	occasional (7.5%)	HP:0010442
45	dilatation of the cerebral artery ³²	occasional (7.5%)	HP:0004944
46	ascending tubular aorta aneurysm ³²		HP:0004970
47	generalized arterial tortuosity ³²		HP:0004955
48	descending thoracic aorta aneurysm ³²	occasional (7.5%)	HP:0004959
49	bicuspid pulmonary valve ³²	occasional (7.5%)	HP:0005182

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

²⁶ (show all 23)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.7	TMPO
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.7	TGFBR2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.7	TGFBR2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	9.7	TMPO
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.7	TGFBR2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	9.7	TGFBR2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-127	9.7	TMPO
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-131	9.7	TMPO
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.7	TGFBR2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-146	9.7	TMPO
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.7	TGFBR2
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.7	TGFBR2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-162	9.7	TGFBR2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-163	9.7	TMPO
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	9.7	TGFBR2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	9.7	TGFBR2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.7	TGFBR2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	9.7	TMPO
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.7	TGFBR2
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-39	9.7	TGFBR2
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-7	9.7	TGFBR2
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.7	TGFBR2 TMPO
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.7	TGFBR2

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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 ²⁹	TGFBR2
2	Marfan Syndrome Type 2 ²⁹

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Anatomical Context for Loeys-Dietz Syndrome 2

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

⁴¹

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	1704.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	15235604 8317497 20301312 (more) 23788249 25356965 27854360 20358619 15731757 16027248 16251899 16885183 16333834 16928994 9927040 12821554 16799921 28225382
2	TMPO	Thymopoietin	Protein Coding	19.57	GeneCards inferred via : Variants (show sections)
3	TMPO-AS1	TMPO Antisense RNA 1	RNA Gene	8.42	GeneCards inferred via : Variants (show sections)

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Variations for Loeys-Dietz Syndrome 2

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

⁷⁵ (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 115)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TGFBR2	NM_001024847.2(TGFBR2): c.1599G> A (p.Gln533=)	single nucleotide variant	Pathogenic	rs121918715	GRCh37	Chromosome 3, 30730003: 30730003
2	TGFBR2	NM_001024847.2(TGFBR2): c.1599G> A (p.Gln533=)	single nucleotide variant	Pathogenic	rs121918715	GRCh38	Chromosome 3, 30688511: 30688511
3	TGFBR2	NM_003242.5(TGFBR2): c.923T> C (p.Leu308Pro)	single nucleotide variant	Pathogenic	rs28934568	GRCh37	Chromosome 3, 30713598: 30713598
4	TGFBR2	NM_003242.5(TGFBR2): c.923T> C (p.Leu308Pro)	single nucleotide variant	Pathogenic	rs28934568	GRCh38	Chromosome 3, 30672106: 30672106
5	TGFBR2	NM_003242.5(TGFBR2): c.1346C> T (p.Ser449Phe)	single nucleotide variant	Pathogenic	rs104893807	GRCh37	Chromosome 3, 30715688: 30715688
6	TGFBR2	NM_003242.5(TGFBR2): c.1346C> T (p.Ser449Phe)	single nucleotide variant	Pathogenic	rs104893807	GRCh38	Chromosome 3, 30674196: 30674196
7	TGFBR2	NM_003242.5(TGFBR2): c.1609C> T (p.Arg537Cys)	single nucleotide variant	Pathogenic	rs104893809	GRCh37	Chromosome 3, 30732996: 30732996
8	TGFBR2	NM_003242.5(TGFBR2): c.1609C> T (p.Arg537Cys)	single nucleotide variant	Pathogenic	rs104893809	GRCh38	Chromosome 3, 30691504: 30691504
9	TGFBR2	NM_003242.5(TGFBR2): c.1006T> A (p.Tyr336Asn)	single nucleotide variant	Pathogenic	rs104893812	GRCh37	Chromosome 3, 30713681: 30713681
10	TGFBR2	NM_003242.5(TGFBR2): c.1006T> A (p.Tyr336Asn)	single nucleotide variant	Pathogenic	rs104893812	GRCh38	Chromosome 3, 30672189: 30672189
11	TGFBR2	NM_003242.5(TGFBR2): c.1063G> C (p.Ala355Pro)	single nucleotide variant	Pathogenic	rs104893813	GRCh37	Chromosome 3, 30713738: 30713738
12	TGFBR2	NM_003242.5(TGFBR2): c.1063G> C (p.Ala355Pro)	single nucleotide variant	Pathogenic	rs104893813	GRCh38	Chromosome 3, 30672246: 30672246
13	TGFBR2	NM_003242.5(TGFBR2): c.1069G> T (p.Gly357Trp)	single nucleotide variant	Pathogenic	rs104893814	GRCh37	Chromosome 3, 30713744: 30713744
14	TGFBR2	NM_003242.5(TGFBR2): c.1069G> T (p.Gly357Trp)	single nucleotide variant	Pathogenic	rs104893814	GRCh38	Chromosome 3, 30672252: 30672252
15	TGFBR2	NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His)	single nucleotide variant	Pathogenic	rs104893815	GRCh37	Chromosome 3, 30732970: 30732970
16	TGFBR2	NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His)	single nucleotide variant	Pathogenic	rs104893815	GRCh38	Chromosome 3, 30691478: 30691478
17	TGFBR2	NM_003242.5(TGFBR2): c.1582C> T (p.Arg528Cys)	single nucleotide variant	Pathogenic	rs104893810	GRCh37	Chromosome 3, 30732969: 30732969
18	TGFBR2	NM_003242.5(TGFBR2): c.1582C> T (p.Arg528Cys)	single nucleotide variant	Pathogenic	rs104893810	GRCh38	Chromosome 3, 30691477: 30691477
19	TGFBR2	TGFBR2, IVS1, A-G, -2	single nucleotide variant	Pathogenic
20	TGFBR2	NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys)	single nucleotide variant	Pathogenic	rs104893811	GRCh37	Chromosome 3, 30715720: 30715720
21	TGFBR2	NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys)	single nucleotide variant	Pathogenic	rs104893811	GRCh38	Chromosome 3, 30674228: 30674228
22	TGFBR2	NM_003242.5(TGFBR2): c.1379G> A (p.Arg460His)	single nucleotide variant	Pathogenic	rs104893816	GRCh37	Chromosome 3, 30715721: 30715721
23	TGFBR2	NM_003242.5(TGFBR2): c.1379G> A (p.Arg460His)	single nucleotide variant	Pathogenic	rs104893816	GRCh38	Chromosome 3, 30674229: 30674229
24	TGFBR2	NM_001024847.2(TGFBR2): c.1472-2A> G	single nucleotide variant	Pathogenic	rs587776770	GRCh37	Chromosome 3, 30729874: 30729874
25	TGFBR2	NM_001024847.2(TGFBR2): c.1472-2A> G	single nucleotide variant	Pathogenic	rs587776770	GRCh38	Chromosome 3, 30688382: 30688382
26	TGFBR2	NM_003242.5(TGFBR2): c.1273A> G (p.Met425Val)	single nucleotide variant	Pathogenic	rs104893817	GRCh37	Chromosome 3, 30715615: 30715615
27	TGFBR2	NM_003242.5(TGFBR2): c.1273A> G (p.Met425Val)	single nucleotide variant	Pathogenic	rs104893817	GRCh38	Chromosome 3, 30674123: 30674123
28	TGFBR2	NM_003242.5(TGFBR2): c.1280C> T (p.Pro427Leu)	single nucleotide variant	Pathogenic	rs104893818	GRCh37	Chromosome 3, 30715622: 30715622
29	TGFBR2	NM_003242.5(TGFBR2): c.1280C> T (p.Pro427Leu)	single nucleotide variant	Pathogenic	rs104893818	GRCh38	Chromosome 3, 30674130: 30674130
30	TGFBR2	NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter)	single nucleotide variant	Pathogenic	rs104893819	GRCh37	Chromosome 3, 30729962: 30729962
31	TGFBR2	NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter)	single nucleotide variant	Pathogenic	rs104893819	GRCh38	Chromosome 3, 30688470: 30688470
32	TGFBR2	NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro)	single nucleotide variant	Pathogenic	rs727504292	GRCh37	Chromosome 3, 30713742: 30713742
33	TGFBR2	NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro)	single nucleotide variant	Pathogenic	rs727504292	GRCh38	Chromosome 3, 30672250: 30672250
34	TMPO	NM_003276.2(TMPO): c.1309G> C (p.Val437Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145703021	GRCh37	Chromosome 12, 98927344: 98927344
35	TMPO	NM_003276.2(TMPO): c.1309G> C (p.Val437Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145703021	GRCh38	Chromosome 12, 98533566: 98533566
36	TMPO	NM_003276.2(TMPO): c.225G> A (p.Pro75=)	single nucleotide variant	Benign	rs59027673	GRCh37	Chromosome 12, 98909870: 98909870
37	TMPO	NM_003276.2(TMPO): c.225G> A (p.Pro75=)	single nucleotide variant	Benign	rs59027673	GRCh38	Chromosome 12, 98516092: 98516092
38	TMPO	NM_003276.2(TMPO): c.686C> T (p.Thr229Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138790561	GRCh37	Chromosome 12, 98926721: 98926721
39	TMPO	NM_003276.2(TMPO): c.686C> T (p.Thr229Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138790561	GRCh38	Chromosome 12, 98532943: 98532943
40	TMPO	NM_003276.2(TMPO): c.1429G> A (p.Ala477Thr)	single nucleotide variant	Uncertain significance	rs34301677	GRCh37	Chromosome 12, 98927464: 98927464
41	TMPO	NM_003276.2(TMPO): c.1429G> A (p.Ala477Thr)	single nucleotide variant	Uncertain significance	rs34301677	GRCh38	Chromosome 12, 98533686: 98533686
42	TMPO	NM_003276.2(TMPO): c.248C> T (p.Ala83Val)	single nucleotide variant	Uncertain significance	rs730880228	GRCh38	Chromosome 12, 98516115: 98516115
43	TMPO	NM_003276.2(TMPO): c.248C> T (p.Ala83Val)	single nucleotide variant	Uncertain significance	rs730880228	GRCh37	Chromosome 12, 98909893: 98909893
44	TMPO	NM_003276.2(TMPO): c.1277C> T (p.Pro426Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141443652	GRCh38	Chromosome 12, 98533534: 98533534
45	TMPO	NM_003276.2(TMPO): c.1277C> T (p.Pro426Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141443652	GRCh37	Chromosome 12, 98927312: 98927312
46	TMPO	NM_003276.2(TMPO): c.350A> G (p.Asn117Ser)	single nucleotide variant	Likely benign	rs141387097	GRCh37	Chromosome 12, 98921734: 98921734
47	TMPO	NM_003276.2(TMPO): c.350A> G (p.Asn117Ser)	single nucleotide variant	Likely benign	rs141387097	GRCh38	Chromosome 12, 98527956: 98527956
48	TMPO	NM_003276.2(TMPO): c.1198A> G (p.Met400Val)	single nucleotide variant	Uncertain significance	rs771185259	GRCh37	Chromosome 12, 98927233: 98927233
49	TMPO	NM_003276.2(TMPO): c.1198A> G (p.Met400Val)	single nucleotide variant	Uncertain significance	rs771185259	GRCh38	Chromosome 12, 98533455: 98533455
50	TGFBR2	NM_003242.5(TGFBR2): c.1489C> T (p.Arg497Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs863223852	GRCh38	Chromosome 3, 30688476: 30688476

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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

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Sources for Loeys-Dietz Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

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