MCID: LYS005
MIFTS: 48

Loeys-Dietz Syndrome Type 1a malady

Cardiovascular diseases, Bone diseases categories

Summaries for Loeys-Dietz Syndrome Type 1a

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46OMIM, 32MalaCards
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MalaCards: Loeys-Dietz Syndrome Type 1a, also known as loeys-dietz syndrome type 1, is related to loeys-dietz syndrome and aortic aneurysm, and has symptoms including striae, abnormal scarring/cheloids/hypertrophic scars and tall stature/gigantism/growth acceleration. An important gene associated with Loeys-Dietz Syndrome Type 1a is TGFBR1 (transforming growth factor, beta receptor 1), and among its related pathways are Hippo signaling pathway and TGF-beta signaling pathway. The compounds dihydrotestosterone and ribonucleic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and skin.

Description from OMIM:46 609192,610168

Aliases & Classifications for Loeys-Dietz Syndrome Type 1a

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60UMLS, 42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
loeys-dietz syndrome type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

loeys-dietz syndrome type 1a 42 22
loeys-dietz syndrome type 1 48 60
aortic aneurysm syndrome due to tgf-beta receptors anomalies 48
loeys-dietz aortic aneurysm syndrome 60
loeys-dietz syndrome, type 1a 46
lds1a 42


External Ids:

ICD10 via Orphanet26 Q87.4
ICD1025 I71.8, I71.9

Related Diseases for Loeys-Dietz Syndrome Type 1a

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Loeys-Dietz Syndrome Type 1a:



Diseases related to loeys-dietz syndrome type 1a

Clinical Features for Loeys-Dietz Syndrome Type 1a

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46OMIM, 48Orphanet
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Clinical features from OMIM:

609192,610168

Clinical synopsis from OMIM:

609192

Symptoms:

48 (show all 29)
  • striae
  • abnormal scarring/cheloids/hypertrophic scars
  • tall stature/gigantism/growth acceleration
  • marfanoid morphotype
  • craniostenosis/craniosynostosis/sutural synostosis
  • pectus carinatum
  • pectus excavatum
  • thin skin
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • hyperextensible joints/articular hyperlaxity
  • joint dislocation/subluxation
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • camptodactyly of fingers
  • long hand/arachnodactyly
  • scoliosis
  • high vaulted/narrow palate
  • flat foot
  • patent ductus arteriosus
  • aortic root dilatation/dilation/aneurysm
  • aortic dissection
  • arterial aneurism (excluding aorta)
  • arterial rupture
  • uterine rupture
  • autosomal dominant inheritance
  • flat cheek bones/malar hypoplasia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • blue sclerae
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • palate anomalies

Drugs & Therapeutics for Loeys-Dietz Syndrome Type 1a

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Loeys-Dietz Syndrome Type 1a

Drug clinical trials:

Search ClinicalTrials for Loeys-Dietz Syndrome Type 1a

Search NIH Clinical Center for Loeys-Dietz Syndrome Type 1a

Search CenterWatch for Loeys-Dietz Syndrome Type 1a

Genetic Tests for Loeys-Dietz Syndrome Type 1a

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22GTR
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Genetic tests related to Loeys-Dietz Syndrome Type 1a:

id Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome Type 1a22

Anatomical Context for Loeys-Dietz Syndrome Type 1a

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32MalaCards
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MalaCards organs/tissues related to Loeys-Dietz Syndrome Type 1a:

32
Bone, Skin

Animal Models for Loeys-Dietz Syndrome Type 1a or affiliated genes

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Publications for Loeys-Dietz Syndrome Type 1a

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Genetic Variations for Loeys-Dietz Syndrome Type 1a

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Loeys-Dietz Syndrome Type 1a:

62
id Symbol AA change Variation ID SNP ID
1TGFBR1p.Thr200IleVAR_022344
2TGFBR1p.Met318ArgVAR_022345
3TGFBR1p.Asp400GlyVAR_022346
4TGFBR1p.Arg487ProVAR_022347
5TGFBR1p.Ser241LeuVAR_029482
6TGFBR1p.Arg487GlnVAR_029484
7TGFBR1p.Asp266TyrVAR_066720
8TGFBR1p.Asp351GlyVAR_066721
9TGFBR1p.Thr375IleVAR_066722

Expression for genes affiliated with Loeys-Dietz Syndrome Type 1a

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Loeys-Dietz Syndrome Type 1a

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

Pathways for genes affiliated with Loeys-Dietz Syndrome Type 1a

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Sources:
29KEGG, 12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database, 59Tocris Bioscience, 53Reactome, 55SinoBiological, 4Cell Signaling Technology, 52R&D Systems
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Pathways related to Loeys-Dietz Syndrome Type 1a according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9TGFBR1
29.3TGFBR2, TGFBR1
3
Development TGF-beta receptor signaling
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9.3TGFBR2, TGFBR1
4
Hide members
9.3TGFBR2, TGFBR1
59.3TGFBR2, TGFBR1
69.3TGFBR2, TGFBR1
79.3TGFBR2, TGFBR1
89.3TGFBR2, TGFBR1
99.3TGFBR2, TGFBR1
10
Hide members
9.3TGFBR2, TGFBR1
11
Cytokine production by Th17 cells in CF (Mouse model)
9.3TGFBR2, TGFBR1
12
Hide members
9.3TGFBR2, TGFBR1
13
Hide members
9.3TGFBR2, TGFBR1
14
Hide members
9.3TGFBR2, TGFBR1
159.3TGFBR1, TGFBR2
169.3TGFBR1, TGFBR2
179.3TGFBR1, TGFBR2
18
Transcription Androgen Receptor nuclear signaling
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9.3TGFBR1, TGFBR2
19
Cell cycle Cell cycle (generic schema)
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9.3TGFBR1, TGFBR2
20
Hide members
9.3TGFBR1, TGFBR2
21
Hide members
9.3TGFBR1, TGFBR2
229.3TGFBR1, TGFBR2
23
Hide members
9.3TGFBR1, TGFBR2
24
Hide members
9.3TGFBR1, TGFBR2
259.3TGFBR1, TGFBR2
269.3TGFBR1, TGFBR2
279.3TGFBR1, TGFBR2
289.3TGFBR1, TGFBR2
29
Hide members
9.3TGFBR1, TGFBR2
309.3TGFBR1, TGFBR2
31
Hide members
9.3TGFBR1, TGFBR2
329.3TGFBR1, TGFBR2
339.3TGFBR1, TGFBR2
34
Hide members
9.3TGFBR1, TGFBR2
359.3TGFBR1, TGFBR2
369.3TGFBR1, TGFBR2

Compounds for genes affiliated with Loeys-Dietz Syndrome Type 1a

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Loeys-Dietz Syndrome Type 1a according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydrotestosterone44 28 11 2412.3TGFBR1, TGFBR2
2ribonucleic acid449.3TGFBR1, TGFBR2
3tgf beta1449.2TGFBR1, TGFBR2
4manganese44 2410.0TGFBR1, TGFBR2

GO Terms for genes affiliated with Loeys-Dietz Syndrome Type 1a

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16Gene Ontology
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Cellular components related to Loeys-Dietz Syndrome Type 1a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.3TGFBR1, TGFBR2
2transforming growth factor beta receptor homodimeric complexGO:0700229.0TGFBR1, TGFBR2

Biological processes related to Loeys-Dietz Syndrome Type 1a according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:0707239.6TGFBR1, TGFBR2
2pathway-restricted SMAD protein phosphorylationGO:0603899.6TGFBR1, TGFBR2
3embryonic cranial skeleton morphogenesisGO:0487019.6TGFBR2, TGFBR1
4lens development in camera-type eyeGO:0020889.5TGFBR2, TGFBR1
5peptidyl-threonine phosphorylationGO:0181079.5TGFBR1, TGFBR2
6wound healingGO:0420609.5TGFBR1, TGFBR2
7peptidyl-serine phosphorylationGO:0181059.4TGFBR2, TGFBR1
8palate developmentGO:0600219.4TGFBR1, TGFBR2
9negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.3TGFBR1, TGFBR2
10in utero embryonic developmentGO:0017019.3TGFBR1, TGFBR2
11transforming growth factor beta receptor signaling pathwayGO:0071799.2TGFBR2, TGFBR1
12heart developmentGO:0075079.0TGFBR1, TGFBR2

Molecular functions related to Loeys-Dietz Syndrome Type 1a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase activityGO:0046759.3TGFBR1, TGFBR2
2SMAD bindingGO:0463329.3TGFBR1, TGFBR2
3transforming growth factor beta bindingGO:0504319.2TGFBR1, TGFBR2
4transforming growth factor beta-activated receptor activityGO:0050249.0TGFBR1, TGFBR2

Products for genes affiliated with Loeys-Dietz Syndrome Type 1a

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Loeys-Dietz Syndrome Type 1a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet