LDS1
MCID: LYS019
MIFTS: 52

Loeys-Dietz Syndrome 1 (LDS1)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Loeys-Dietz Syndrome 1

MalaCards integrated aliases for Loeys-Dietz Syndrome 1:

Name: Loeys-Dietz Syndrome 1 57 12 53 75 29 6 15
Furlong Syndrome 57 12 75 73
Loeys-Dietz Aortic Aneurysm Syndrome 57 75 73
Lds1 57 12 75
Aat5 57 12 75
Loeys-Dietz Syndrome Type 1 53 73
Marfanoid Disorder-Craniosynostosis Syndrome 75
Aortic Aneurysm, Familial Thoracic 5; Aat5 57
Aortic Aneurysm, Familial Thoracic 5 57
Familial Throacic Aortic Aneurysm 5 12
Familial Thoracic Aortic Aneurysm 5 75
Syndrome, Loeys-Dietz, Type 1 40
Loeys-Dietz Syndrome, Type 2a 73
Ldas 75

Characteristics:

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 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Loeys-Dietz Syndrome 1

OMIM : 57 The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications. LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). (609192)

MalaCards based summary : Loeys-Dietz Syndrome 1, also known as furlong syndrome, is related to loeys-dietz syndrome and aortic aneurysm. An important gene associated with Loeys-Dietz Syndrome 1 is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. 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 TGFBR1 gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 75 Loeys-Dietz syndrome 1: 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.

Related Diseases for Loeys-Dietz Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 31.2 COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
2 aortic aneurysm 29.8 COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
3 loeys-dietz syndrome 5 11.1
4 transient hypogammaglobulinemia 10.2 TGFBR1 TGFBR2
5 cutis laxa, autosomal recessive, type ic 10.2 TGFBR1 TGFBR2
6 familial abdominal aortic aneurysm 10.1 COL3A1 FBN1
7 subclavian artery aneurysm 10.1 MYH11 TGFBR2
8 char syndrome 10.1 COL3A1 FBN1 TGFBR2
9 dental pulp calcification 10.1 FBN1 TGFBR2
10 tricuspid valve prolapse 10.1 FBN1 SMAD3
11 stiff skin syndrome 10.0 FBN1 TGFB2
12 loeys-dietz syndrome 2 10.0 GOT1 GPT2 MYH11 TGFBR2
13 marfan syndrome 10.0 COL3A1 FBN1 TGFBR1 TGFBR2
14 diabetes mellitus, noninsulin-dependent 10.0
15 lichen sclerosus et atrophicus 10.0
16 stroke, ischemic 10.0
17 diabetes mellitus 10.0
18 extrapulmonary tuberculosis 10.0
19 angiomyoma 10.0
20 coenurosis 10.0 GOT2 LDHA
21 loeys-dietz syndrome 4 9.9 SMAD3 TGFB2 TGFBR1 TGFBR2
22 histidine metabolism disease 9.9 GOT1 GOT2 SERPINA1
23 histidinemia 9.9 GOT1 GOT2 SERPINA1
24 aortic disease 9.9 FBN1 MYH11 TGFB2 TGFBR1 TGFBR2
25 familial thoracic aortic aneurysm and dissection 9.8 COL3A1 FBN1 SMAD3 TGFBR1 TGFBR2
26 subendocardial myocardial infarction 9.8 LDHA SERPINA1
27 loeys-dietz syndrome 3 9.6 COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
28 aortic aneurysm, familial thoracic 1 9.6 COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 1:



Diseases related to Loeys-Dietz Syndrome 1

Symptoms & Phenotypes for Loeys-Dietz Syndrome 1

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

Skeletal Hands:
arachnodactyly
camptodactyly
postaxial polydactyly (rare)

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

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

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

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)

Growth Other:
dolichostenomelia (uncommon)

Skin Nails Hair Skin:
velvety texture
translucent skin


Clinical features from OMIM:

609192

Human phenotypes related to Loeys-Dietz Syndrome 1:

32 (show all 36)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 frequent (33%) HP:0000272
2 hypertelorism 32 hallmark (90%) HP:0000316
3 hydrocephalus 32 occasional (7.5%) HP:0000238
4 intellectual disability 32 HP:0001249
5 scoliosis 32 frequent (33%) HP:0002650
6 global developmental delay 32 very rare (1%) HP:0001263
7 cleft palate 32 frequent (33%) HP:0000175
8 micrognathia 32 HP:0000347
9 retrognathia 32 frequent (33%) HP:0000278
10 patent ductus arteriosus 32 very rare (1%) HP:0001643
11 atrial septal defect 32 very rare (1%) HP:0001631
12 bicuspid aortic valve 32 HP:0001647
13 joint laxity 32 frequent (33%) HP:0001388
14 talipes equinovarus 32 frequent (33%) HP:0001762
15 arnold-chiari malformation 32 occasional (7.5%) HP:0002308
16 arachnodactyly 32 frequent (33%) HP:0001166
17 disproportionate tall stature 32 occasional (7.5%) HP:0001519
18 mitral valve prolapse 32 HP:0001634
19 ascending aortic dissection 32 frequent (33%) HP:0004933
20 proptosis 32 frequent (33%) HP:0000520
21 craniosynostosis 32 frequent (33%) HP:0001363
22 blue sclerae 32 frequent (33%) HP:0000592
23 abnormality of the sternum 32 frequent (33%) HP:0000766
24 postaxial hand polydactyly 32 HP:0001162
25 bifid uvula 32 frequent (33%) HP:0000193
26 camptodactyly 32 HP:0012385
27 exotropia 32 HP:0000577
28 dermal translucency 32 HP:0010648
29 joint contracture of the hand 32 frequent (33%) HP:0009473
30 pulmonary artery aneurysm 32 HP:0004937
31 soft skin 32 frequent (33%) HP:0000977
32 dilatation of the cerebral artery 32 HP:0004944
33 ascending tubular aorta aneurysm 32 hallmark (90%) HP:0004970
34 generalized arterial tortuosity 32 frequent (33%) HP:0004955
35 descending thoracic aorta aneurysm 32 HP:0004959
36 bicuspid pulmonary valve 32 occasional (7.5%) HP:0005182

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 1:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 COL3A1 FBN1 GPT2 HDAC1 KDM1A MYH11
2 cardiovascular system MP:0005385 10.19 COL3A1 FBN1 HDAC1 KDM1A LDHA MYH11
3 growth/size/body region MP:0005378 10.15 CKB COL3A1 FBN1 HDAC1 KDM1A LDHA
4 mortality/aging MP:0010768 10.07 COL3A1 FBN1 GPT2 HDAC1 KDM1A LDHA
5 embryo MP:0005380 10.06 FBN1 HDAC1 KDM1A PIGA RCOR1 SMAD3
6 hematopoietic system MP:0005397 10.02 FBN1 HDAC1 KDM1A LDHA PIGA RCOR1
7 digestive/alimentary MP:0005381 9.98 COL3A1 MYH11 PIGA SMAD3 TGFB2 TGFBR1
8 craniofacial MP:0005382 9.93 FBN1 HDAC1 PIGA SMAD3 TGFB2 TGFBR2
9 muscle MP:0005369 9.7 COL3A1 FBN1 HDAC1 MYH11 TGFB2 TGFBR1
10 neoplasm MP:0002006 9.43 HDAC1 LDHA PIGA SMAD3 TGFBR1 TGFBR2
11 respiratory system MP:0005388 9.28 COL3A1 FBN1 HDAC1 KDM1A LDHA MYH11

Drugs & Therapeutics for Loeys-Dietz Syndrome 1

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 1

Genetic Tests for Loeys-Dietz Syndrome 1

Genetic tests related to Loeys-Dietz Syndrome 1:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 1 29 TGFBR1

Anatomical Context for Loeys-Dietz Syndrome 1

MalaCards organs/tissues related to Loeys-Dietz Syndrome 1:

41
Skin, Brain, Spleen, Uterus, Bone, Eye

Publications for Loeys-Dietz Syndrome 1

Articles related to Loeys-Dietz Syndrome 1:

# Title Authors Year
1
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome. ( 16283890 )
2005

Variations for Loeys-Dietz Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 1:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 TGFBR1 p.Thr200Ile VAR_022344 rs121918712
2 TGFBR1 p.Met318Arg VAR_022345 rs121918710
3 TGFBR1 p.Asp400Gly VAR_022346 rs121918711
4 TGFBR1 p.Arg487Pro VAR_022347 rs113605875
5 TGFBR1 p.Lys232Glu VAR_029481
6 TGFBR1 p.Ser241Leu VAR_029482 rs111854391
7 TGFBR1 p.Arg487Gln VAR_029484 rs113605875
8 TGFBR1 p.Arg487Trp VAR_029485 rs111426349
9 TGFBR1 p.Asp266Tyr VAR_066720
10 TGFBR1 p.Asp351Gly VAR_066721
11 TGFBR1 p.Thr375Arg VAR_066722

ClinVar genetic disease variations for Loeys-Dietz Syndrome 1:

6 (show top 50) (show all 246)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR1 NM_004612.3(TGFBR1): c.953T> G (p.Met318Arg) single nucleotide variant Pathogenic rs121918710 GRCh37 Chromosome 9, 101904965: 101904965
2 TGFBR1 NM_004612.3(TGFBR1): c.953T> G (p.Met318Arg) single nucleotide variant Pathogenic rs121918710 GRCh38 Chromosome 9, 99142683: 99142683
3 TGFBR1 NM_004612.3(TGFBR1): c.1199A> G (p.Asp400Gly) single nucleotide variant Pathogenic rs121918711 GRCh37 Chromosome 9, 101908835: 101908835
4 TGFBR1 NM_004612.3(TGFBR1): c.1199A> G (p.Asp400Gly) single nucleotide variant Pathogenic rs121918711 GRCh38 Chromosome 9, 99146553: 99146553
5 TGFBR1 NM_004612.3(TGFBR1): c.599C> T (p.Thr200Ile) single nucleotide variant Pathogenic rs121918712 GRCh37 Chromosome 9, 101900165: 101900165
6 TGFBR1 NM_004612.3(TGFBR1): c.599C> T (p.Thr200Ile) single nucleotide variant Pathogenic rs121918712 GRCh38 Chromosome 9, 99137883: 99137883
7 TGFBR1 NM_004612.3(TGFBR1): c.1460G> C (p.Arg487Pro) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
8 TGFBR1 NM_004612.3(TGFBR1): c.1460G> C (p.Arg487Pro) single nucleotide variant Pathogenic rs113605875 GRCh38 Chromosome 9, 99149253: 99149253
9 TGFBR1 NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh37 Chromosome 9, 101900288: 101900288
10 TGFBR1 NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh38 Chromosome 9, 99138006: 99138006
11 TGFBR1 NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
12 TGFBR1 NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh38 Chromosome 9, 99149253: 99149253
13 TGFBR1 NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh37 Chromosome 9, 101911534: 101911534
14 TGFBR1 NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh38 Chromosome 9, 99149252: 99149252
15 TGFBR1 NM_004612.3(TGFBR1): c.521G> T (p.Gly174Val) single nucleotide variant Pathogenic rs121918713 GRCh37 Chromosome 9, 101894968: 101894968
16 TGFBR1 NM_004612.3(TGFBR1): c.521G> T (p.Gly174Val) single nucleotide variant Pathogenic rs121918713 GRCh38 Chromosome 9, 99132686: 99132686
17 TGFBR1 NM_004612.3(TGFBR1): c.1125A> C (p.Thr375=) single nucleotide variant Benign/Likely benign rs7861780 GRCh37 Chromosome 9, 101907165: 101907165
18 TGFBR1 NM_004612.3(TGFBR1): c.1125A> C (p.Thr375=) single nucleotide variant Benign/Likely benign rs7861780 GRCh38 Chromosome 9, 99144883: 99144883
19 TGFBR1 NM_004612.3(TGFBR1): c.1032T> C (p.Asn344=) single nucleotide variant Benign/Likely benign rs192662552 GRCh37 Chromosome 9, 101907072: 101907072
20 TGFBR1 NM_004612.3(TGFBR1): c.1032T> C (p.Asn344=) single nucleotide variant Benign/Likely benign rs192662552 GRCh38 Chromosome 9, 99144790: 99144790
21 TGFBR1 NM_004612.3(TGFBR1): c.528G> A (p.Thr176=) single nucleotide variant Conflicting interpretations of pathogenicity rs190878719 GRCh37 Chromosome 9, 101894975: 101894975
22 TGFBR1 NM_004612.3(TGFBR1): c.528G> A (p.Thr176=) single nucleotide variant Conflicting interpretations of pathogenicity rs190878719 GRCh38 Chromosome 9, 99132693: 99132693
23 TGFBR2 NM_001024847.2(TGFBR2): c.1060G> A (p.Ala354Thr) single nucleotide variant Uncertain significance rs148665451 GRCh37 Chromosome 3, 30713660: 30713660
24 TGFBR2 NM_001024847.2(TGFBR2): c.1060G> A (p.Ala354Thr) single nucleotide variant Uncertain significance rs148665451 GRCh38 Chromosome 3, 30672168: 30672168
25 TGFBR1 NM_004612.3(TGFBR1): c.1433A> G (p.Asn478Ser) single nucleotide variant Uncertain significance rs141259922 GRCh37 Chromosome 9, 101911508: 101911508
26 TGFBR1 NM_004612.3(TGFBR1): c.1433A> G (p.Asn478Ser) single nucleotide variant Uncertain significance rs141259922 GRCh38 Chromosome 9, 99149226: 99149226
27 TGFBR1 NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del) deletion Conflicting interpretations of pathogenicity rs11466445 GRCh37 Chromosome 9, 101867557: 101867565
28 TGFBR1 NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del) deletion Conflicting interpretations of pathogenicity rs11466445 GRCh38 Chromosome 9, 99105275: 99105283
29 TGFBR1 NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148176750 GRCh38 Chromosome 9, 99132580: 99132580
30 TGFBR1 NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148176750 GRCh37 Chromosome 9, 101894862: 101894862
31 TGFBR1 NM_004612.3(TGFBR1): c.457G> A (p.Val153Ile) single nucleotide variant Likely benign rs56014374 GRCh38 Chromosome 9, 99132622: 99132622
32 TGFBR1 NM_004612.3(TGFBR1): c.457G> A (p.Val153Ile) single nucleotide variant Likely benign rs56014374 GRCh37 Chromosome 9, 101894904: 101894904
33 TGFBR1 NM_004612.3(TGFBR1): c.575-9dupT duplication Benign/Likely benign rs863223798 GRCh37 Chromosome 9, 101900132: 101900132
34 TGFBR1 NM_004612.3(TGFBR1): c.575-9dupT duplication Benign/Likely benign rs863223798 GRCh38 Chromosome 9, 99137850: 99137850
35 TGFBR1 NM_004612.3(TGFBR1): c.613A> G (p.Ile205Val) single nucleotide variant Uncertain significance rs200018073 GRCh37 Chromosome 9, 101900179: 101900179
36 TGFBR1 NM_004612.3(TGFBR1): c.613A> G (p.Ile205Val) single nucleotide variant Uncertain significance rs200018073 GRCh38 Chromosome 9, 99137897: 99137897
37 TGFBR2 NM_003242.5(TGFBR2): c.1336G> A (p.Asp446Asn) single nucleotide variant Pathogenic/Likely pathogenic rs886039551 GRCh37 Chromosome 3, 30715678: 30715678
38 TGFBR2 NM_003242.5(TGFBR2): c.1336G> A (p.Asp446Asn) single nucleotide variant Pathogenic/Likely pathogenic rs886039551 GRCh38 Chromosome 3, 30674186: 30674186
39 TGFBR1 NM_004612.3(TGFBR1): c.-43C> A single nucleotide variant Uncertain significance rs886063219 GRCh37 Chromosome 9, 101867445: 101867445
40 TGFBR1 NM_004612.3(TGFBR1): c.-43C> A single nucleotide variant Uncertain significance rs886063219 GRCh38 Chromosome 9, 99105163: 99105163
41 TGFBR1 NM_004612.3(TGFBR1): c.666A> G (p.Gly222=) single nucleotide variant Uncertain significance rs886063223 GRCh37 Chromosome 9, 101900232: 101900232
42 TGFBR1 NM_004612.3(TGFBR1): c.666A> G (p.Gly222=) single nucleotide variant Uncertain significance rs886063223 GRCh38 Chromosome 9, 99137950: 99137950
43 TGFBR1 NM_004612.3(TGFBR1): c.1443T> A (p.Ala481=) single nucleotide variant Uncertain significance rs886063225 GRCh38 Chromosome 9, 99149236: 99149236
44 TGFBR1 NM_004612.3(TGFBR1): c.1443T> A (p.Ala481=) single nucleotide variant Uncertain significance rs886063225 GRCh37 Chromosome 9, 101911518: 101911518
45 TGFBR1 NM_004612.3(TGFBR1): c.*69A> G single nucleotide variant Benign rs868 GRCh38 Chromosome 9, 99149374: 99149374
46 TGFBR1 NM_004612.3(TGFBR1): c.*69A> G single nucleotide variant Benign rs868 GRCh37 Chromosome 9, 101911656: 101911656
47 TGFBR1 NM_004612.3(TGFBR1): c.*709C> T single nucleotide variant Uncertain significance rs886063228 GRCh37 Chromosome 9, 101912296: 101912296
48 TGFBR1 NM_004612.3(TGFBR1): c.*709C> T single nucleotide variant Uncertain significance rs886063228 GRCh38 Chromosome 9, 99150014: 99150014
49 TGFBR1 NM_004612.3(TGFBR1): c.*1183G> A single nucleotide variant Likely benign rs184564501 GRCh37 Chromosome 9, 101912770: 101912770
50 TGFBR1 NM_004612.3(TGFBR1): c.*1183G> A single nucleotide variant Likely benign rs184564501 GRCh38 Chromosome 9, 99150488: 99150488

Expression for Loeys-Dietz Syndrome 1

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 1.

Pathways for Loeys-Dietz Syndrome 1

Pathways related to Loeys-Dietz Syndrome 1 according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
2 12.77 HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
3
Show member pathways
12.52 SMAD3 TGFB2 TGFBR1 TGFBR2
4
Show member pathways
12.47 SMAD3 TGFB2 TGFBR1 TGFBR2
5
Show member pathways
12.41 SMAD3 TGFB2 TGFBR1 TGFBR2
6 12.37 SMAD3 TGFB2 TGFBR1 TGFBR2
7
Show member pathways
12.24 HDAC1 SMAD3 TGFBR1 TGFBR2
8
Show member pathways
12.16 SMAD3 TGFB2 TGFBR1 TGFBR2
9 12.12 SMAD3 TGFB2 TGFBR1 TGFBR2
10 12.09 SMAD3 TGFB2 TGFBR1 TGFBR2
11 12.06 SMAD3 TGFB2 TGFBR1 TGFBR2
12
Show member pathways
12 SMAD3 TGFB2 TGFBR1 TGFBR2
13
Show member pathways
12 SMAD3 TGFB2 TGFBR1 TGFBR2
14 11.97 TGFB2 TGFBR1 TGFBR2
15 11.97 HDAC1 SMAD3 TGFBR1 TGFBR2
16
Show member pathways
11.95 GOT1 GOT2 LDHA
17
Show member pathways
11.94 SMAD3 TGFB2 TGFBR1 TGFBR2
18
Show member pathways
11.82 SMAD3 TGFBR1 TGFBR2
19 11.8 HDAC1 KDM1A SMAD3
20 11.8 HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
21 11.76 SMAD3 TGFB2 TGFBR1 TGFBR2
22 11.72 GOT1 GOT2 GPT2 LDHA
23
Show member pathways
11.71 SMAD3 TGFBR1 TGFBR2
24 11.68 SMAD3 TGFBR1 TGFBR2
25 11.68 SMAD3 TGFBR1 TGFBR2
26
Show member pathways
11.66 SMAD3 TGFBR1 TGFBR2
27 11.59 SMAD3 TGFB2 TGFBR1 TGFBR2
28 11.57 SMAD3 TGFBR1 TGFBR2
29
Show member pathways
11.55 CKB GOT1 GOT2
30 11.55 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
31 11.5 SMAD3 TGFBR1 TGFBR2
32
Show member pathways
11.5 SMAD3 TGFB2 TGFBR1 TGFBR2
33 11.47 TGFB2 TGFBR1 TGFBR2
34 11.42 TGFB2 TGFBR1 TGFBR2
35 11.39 HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
36
Show member pathways
11.36 GOT1 GOT2 GPT2
37 11.26 GOT1 GOT2 GPT2
38
Show member pathways
11.09 GOT1 GOT2 GPT2
39 10.93 SMAD3 TGFBR1 TGFBR2
40
Show member pathways
10.9 GOT1 GOT2 HDAC1
41
Show member pathways
10.79 GOT1 GOT2
42 10.73 SMAD3 TGFB2 TGFBR1 TGFBR2
43 10.32 FBN1 SMAD3 TGFBR1 TGFBR2

GO Terms for Loeys-Dietz Syndrome 1

Cellular components related to Loeys-Dietz Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.56 COL3A1 FBN1 SERPINA1 TGFB2
2 transcription factor complex GO:0005667 9.46 HDAC1 KDM1A RCOR1 SMAD3
3 DNA repair complex GO:1990391 8.96 KDM1A RCOR1
4 transforming growth factor beta receptor complex GO:0070022 8.62 TGFBR1 TGFBR2

Biological processes related to Loeys-Dietz Syndrome 1 according to GeneCards Suite gene sharing:

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.92 HDAC1 KDM1A RCOR1 SERPINA1
2 response to hypoxia GO:0001666 9.9 LDHA SMAD3 TGFB2 TGFBR2
3 response to organic cyclic compound GO:0014070 9.86 KDM1A LDHA TGFBR2
4 kidney development GO:0001822 9.85 FBN1 TGFB2 TGFBR1
5 heart development GO:0007507 9.83 COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
6 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.8 SMAD3 TGFBR1 TGFBR2
7 cellular response to transforming growth factor beta stimulus GO:0071560 9.8 FBN1 SMAD3 TGFBR1
8 cellular amino acid biosynthetic process GO:0008652 9.77 GOT1 GOT2 GPT2
9 collagen fibril organization GO:0030199 9.76 COL3A1 TGFB2 TGFBR1
10 skeletal system development GO:0001501 9.72 COL3A1 FBN1 SMAD3 TGFB2 TGFBR1
11 biosynthetic process GO:0009058 9.71 GOT1 GOT2 GPT2
12 ventricular septum morphogenesis GO:0060412 9.7 TGFB2 TGFBR1 TGFBR2
13 glutamate metabolic process GO:0006536 9.68 GOT1 GOT2
14 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.68 TGFBR1 TGFBR2
15 activin receptor signaling pathway GO:0032924 9.67 SMAD3 TGFBR1
16 ventricular trabecula myocardium morphogenesis GO:0003222 9.67 TGFB2 TGFBR1
17 negative regulation of immune response GO:0050777 9.67 COL3A1 TGFB2
18 embryonic cranial skeleton morphogenesis GO:0048701 9.67 SMAD3 TGFBR1 TGFBR2
19 secondary palate development GO:0062009 9.66 TGFB2 TGFBR2
20 cardiac epithelial to mesenchymal transition GO:0060317 9.66 TGFB2 TGFBR1
21 atrioventricular valve morphogenesis GO:0003181 9.65 TGFB2 TGFBR2
22 histone H4 deacetylation GO:0070933 9.65 HDAC1 RCOR1
23 oxaloacetate metabolic process GO:0006107 9.65 GOT1 GOT2
24 membranous septum morphogenesis GO:0003149 9.64 TGFB2 TGFBR2
25 negative regulation of cytosolic calcium ion concentration GO:0051481 9.64 GOT1 SMAD3
26 response to cholesterol GO:0070723 9.63 TGFBR1 TGFBR2
27 aspartate metabolic process GO:0006531 9.61 GOT1 GOT2
28 transdifferentiation GO:0060290 9.61 GOT1 SMAD3
29 aspartate catabolic process GO:0006533 9.58 GOT1 GOT2
30 2-oxoglutarate metabolic process GO:0006103 9.58 GOT1 GOT2 GPT2
31 dicarboxylic acid metabolic process GO:0043648 9.57 GOT1 GOT2
32 endocardial cushion fusion GO:0003274 9.56 TGFB2 TGFBR2
33 positive regulation of epithelial to mesenchymal transition GO:0010718 9.56 SMAD3 TGFB2 TGFBR1 TGFBR2
34 regulation of transforming growth factor beta2 production GO:0032909 9.55 SMAD3 TGFB2
35 transforming growth factor beta receptor signaling pathway GO:0007179 9.55 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
36 pathway-restricted SMAD protein phosphorylation GO:0060389 9.54 TGFB2 TGFBR1 TGFBR2
37 aspartate biosynthetic process GO:0006532 9.51 GOT1 GOT2
38 glutamate catabolic process to 2-oxoglutarate GO:0019551 9.48 GOT1 GOT2
39 glutamate catabolic process to aspartate GO:0019550 9.46 GOT1 GOT2
40 wound healing GO:0042060 9.35 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
41 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 8.8 TGFB2 TGFBR1 TGFBR2

Molecular functions related to Loeys-Dietz Syndrome 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.84 GOT2 HDAC1 KDM1A SMAD3
2 transcription factor binding GO:0008134 9.81 HDAC1 KDM1A RCOR1 SMAD3
3 transcription regulatory region DNA binding GO:0044212 9.73 HDAC1 KDM1A RCOR1 SMAD3
4 transforming growth factor beta binding GO:0050431 9.52 TGFBR1 TGFBR2
5 pyridoxal phosphate binding GO:0030170 9.5 GOT1 GOT2 GPT2
6 transforming growth factor beta-activated receptor activity GO:0005024 9.48 TGFBR1 TGFBR2
7 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.46 TGFBR1 TGFBR2
8 histone deacetylase activity GO:0004407 9.43 HDAC1 KDM1A RCOR1
9 carboxylic acid binding GO:0031406 9.4 GOT1 GOT2
10 type II transforming growth factor beta receptor binding GO:0005114 9.37 TGFB2 TGFBR1
11 L-aspartate:2-oxoglutarate aminotransferase activity GO:0004069 9.16 GOT1 GOT2
12 transaminase activity GO:0008483 9.13 GOT1 GOT2 GPT2
13 SMAD binding GO:0046332 8.92 COL3A1 SMAD3 TGFBR1 TGFBR2
14 protein binding GO:0005515 10.37 CKB COL3A1 FBN1 HDAC1 KDM1A LDHA

Sources for Loeys-Dietz Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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