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

LDS2 MCID: LYS018 MIFTS: 43	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 Pathways 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 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ⁶ ¹⁵

Marfan Syndrome Type 2 ⁵⁹ ⁷⁵ ²⁹ ⁷³

Lds2 ⁵⁷ ¹² ⁷⁵

Aat3 ⁵⁷ ¹² ⁷⁵

Aortic Aneurysm, Familial Thoracic 3 ⁵⁷ ⁷³

Loeys-Dietz Syndrome Type 2 ⁵³ ⁷³

Marfan Syndrome Type Ii ¹² ⁷⁶

Mfs2 ⁵⁹ ⁷⁵

Aortic Aneurysm, Familial Thoracic 3; Aat3 ⁵⁷

Thoracic Aortic Aneurysms and Dissection 2 ⁷⁵

Familial Aortic Aneurysm Thoracic Type 3 ⁷⁵

Familial Throacic Aortic Aneurysm 3 ¹²

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 Immune 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

Disease Ontology ¹² DOID:0070234

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 subclavian artery aneurysm. An important gene associated with Loeys-Dietz Syndrome 2 is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways/superpathways are Amino Acid metabolism and Amino acid synthesis and interconversion (transamination). Affiliated tissues include skin, brain and spleen, and related phenotypes are malar flattening and hypertelorism

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

Wikipedia : ⁷⁶ Loeys�??Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has... 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	9.8	MYH11 TGFBR2
6	aortic aneurysm	9.8	MYH11 TGFBR2
7	aortic disease	9.7	MYH11 TGFBR2
8	loeys-dietz syndrome 1	9.5	GOT1 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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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)

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 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)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Clinical features from OMIM:

610168

Human phenotypes related to Loeys-Dietz Syndrome 2:

³² (show all 48)

#	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	joint laxity ³²		HP:0001388
20	talipes equinovarus ³²		HP:0001762
21	arnold-chiari malformation ³²	occasional (7.5%)	HP:0002308
22	striae distensae ³²		HP:0001065
23	arachnodactyly ³²		HP:0001166
24	disproportionate tall stature ³²	occasional (7.5%)	HP:0001519
25	spontaneous pneumothorax ³²		HP:0002108
26	mitral valve prolapse ³²	occasional (7.5%)	HP:0001634
27	protrusio acetabuli ³²		HP:0003179
28	spondylolisthesis ³²		HP:0003302
29	ascending aortic dissection ³²		HP:0004933
30	brachydactyly ³²		HP:0001156
31	proptosis ³²		HP:0000520
32	craniosynostosis ³²	occasional (7.5%)	HP:0001363
33	blue sclerae ³²		HP:0000592
34	bifid uvula ³²		HP:0000193
35	camptodactyly ³²		HP:0012385
36	syndactyly ³²	occasional (7.5%)	HP:0001159
37	exotropia ³²		HP:0000577
38	dermal translucency ³²		HP:0010648
39	absent distal phalanges ³²	occasional (7.5%)	HP:0005807
40	joint contracture of the hand ³²		HP:0009473
41	pulmonary artery aneurysm ³²		HP:0004937
42	postaxial polydactyly ³²	occasional (7.5%)	HP:0100259
43	polydactyly ³²	occasional (7.5%)	HP:0010442
44	dilatation of the cerebral artery ³²	occasional (7.5%)	HP:0004944
45	ascending tubular aorta aneurysm ³²		HP:0004970
46	generalized arterial tortuosity ³²		HP:0004955
47	descending thoracic aorta aneurysm ³²	occasional (7.5%)	HP:0004959
48	bicuspid pulmonary valve ³²	occasional (7.5%)	HP:0005182

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.02	GPT2 MYH11 TGFBR2 TMPO TRIO

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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	1684.99	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	15731757 20301312 23788249 (more) 25356965 27854360 15235604 8317497 20358619 16333834 16251899 16928994 16799921 28225382 9927040 12821554 16027248 16885183
2	TMPO	Thymopoietin	Protein Coding	19.61	GeneCards inferred via : Variants (show sections)
3	GPT2	Glutamic--Pyruvic Transaminase 2	Protein Coding	17.83	DISEASES inferred ¹⁵
4	GOT1	Glutamic-Oxaloacetic Transaminase 1	Protein Coding	16.79	DISEASES inferred ¹⁵
5	MYH11	Myosin Heavy Chain 11	Protein Coding	16.16	DISEASES inferred ¹⁵
6	TRIO	Trio Rho Guanine Nucleotide Exchange Factor	Protein Coding	15.76	DISEASES inferred ¹⁵

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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 169)

#	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	TMPO	NM_003276.2(TMPO): c.2068C> T (p.Arg690Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs17028450	GRCh37	Chromosome 12, 98928103: 98928103
33	TMPO	NM_003276.2(TMPO): c.2068C> T (p.Arg690Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs17028450	GRCh38	Chromosome 12, 98534325: 98534325
34	TMPO	NM_003276.2(TMPO): c.1434G> C (p.Lys478Asn)	single nucleotide variant	Benign/Likely benign	rs35761089	GRCh37	Chromosome 12, 98927469: 98927469
35	TMPO	NM_003276.2(TMPO): c.1434G> C (p.Lys478Asn)	single nucleotide variant	Benign/Likely benign	rs35761089	GRCh38	Chromosome 12, 98533691: 98533691
36	TMPO	NM_003276.2(TMPO): c.713T> G (p.Leu238Arg)	single nucleotide variant	Benign/Likely benign	rs35998138	GRCh37	Chromosome 12, 98926748: 98926748
37	TMPO	NM_003276.2(TMPO): c.713T> G (p.Leu238Arg)	single nucleotide variant	Benign/Likely benign	rs35998138	GRCh38	Chromosome 12, 98532970: 98532970
38	TMPO	NM_003276.2(TMPO): c.877T> G (p.Ser293Ala)	single nucleotide variant	Benign/Likely benign	rs35645287	GRCh37	Chromosome 12, 98926912: 98926912
39	TMPO	NM_003276.2(TMPO): c.877T> G (p.Ser293Ala)	single nucleotide variant	Benign/Likely benign	rs35645287	GRCh38	Chromosome 12, 98533134: 98533134
40	TMPO	NM_003276.2(TMPO): c.950C> G (p.Thr317Ser)	single nucleotide variant	Benign/Likely benign	rs35969221	GRCh37	Chromosome 12, 98926985: 98926985
41	TMPO	NM_003276.2(TMPO): c.950C> G (p.Thr317Ser)	single nucleotide variant	Benign/Likely benign	rs35969221	GRCh38	Chromosome 12, 98533207: 98533207
42	TMPO	NM_003276.2(TMPO): c.1246A> G (p.Lys416Glu)	single nucleotide variant	Benign/Likely benign	rs11838270	GRCh37	Chromosome 12, 98927281: 98927281
43	TMPO	NM_003276.2(TMPO): c.1246A> G (p.Lys416Glu)	single nucleotide variant	Benign/Likely benign	rs11838270	GRCh38	Chromosome 12, 98533503: 98533503
44	TMPO	NM_003276.2(TMPO): c.1471T> G (p.Ser491Ala)	single nucleotide variant	Benign/Likely benign	rs80325832	GRCh37	Chromosome 12, 98927506: 98927506
45	TMPO	NM_003276.2(TMPO): c.1471T> G (p.Ser491Ala)	single nucleotide variant	Benign/Likely benign	rs80325832	GRCh38	Chromosome 12, 98533728: 98533728
46	TMPO	NM_003276.2(TMPO): c.1632T> A (p.Ile544=)	single nucleotide variant	Benign/Likely benign	rs12316677	GRCh37	Chromosome 12, 98927667: 98927667
47	TMPO	NM_003276.2(TMPO): c.1632T> A (p.Ile544=)	single nucleotide variant	Benign/Likely benign	rs12316677	GRCh38	Chromosome 12, 98533889: 98533889
48	TMPO	NM_003276.2(TMPO): c.1957C> T (p.Leu653Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202035749	GRCh37	Chromosome 12, 98927992: 98927992
49	TMPO	NM_003276.2(TMPO): c.1957C> T (p.Leu653Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202035749	GRCh38	Chromosome 12, 98534214: 98534214
50	TMPO	NM_003276.2(TMPO): c.396T> A (p.Gly132=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs397516844	GRCh37	Chromosome 12, 98921780: 98921780

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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

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

#	Super pathways	Score	Top Affiliating Genes
1	Amino Acid metabolism ¹	11.22	GOT1 GPT2
2	Amino acid synthesis and interconversion (transamination) ⁶⁶ Show member pathways asparagine biosynthesis ¹ Serine biosynthesis ⁶⁶	10.77	GOT1 GPT2
3	Alanine, aspartate and glutamate metabolism ³⁷	10.5	GOT1 GPT2
4	Arginine biosynthesis ³⁷ Show member pathways citrulline-nitric oxide cycle ¹	10.04	GOT1 GPT2

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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	Notch signaling pathway	GO:0007219	9.26	GOT1 TGFBR2
2	cellular amino acid biosynthetic process	GO:0008652	9.16	GOT1 GPT2
3	biosynthetic process	GO:0009058	8.96	GOT1 GPT2
4	2-oxoglutarate metabolic process	GO:0006103	8.62	GOT1 GPT2

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	9.46	GOT1 GPT2 TGFBR2 TRIO
2	pyridoxal phosphate binding	GO:0030170	8.96	GOT1 GPT2
3	transaminase activity	GO:0008483	8.62	GOT1 GPT2

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Loeys-Dietz Syndrome 2:

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

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

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