MCID: LYS005
MIFTS: 11

Loeys-Dietz Syndrome Type 1a malady

Rare diseases category

Summaries for Loeys-Dietz Syndrome Type 1a

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34MalaCards
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MalaCards: Loeys-Dietz Syndrome Type 1a, is also known as loeys-dietz aortic aneurysm syndrome

Aliases & Classifications for Loeys-Dietz Syndrome Type 1a

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Sources:
44NIH Rare Diseases, 23GTR, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

loeys-dietz syndrome type 1a 44 23
loeys-dietz aortic aneurysm syndrome 63
loeys-dietz syndrome type 1 63
lds1a 44


Related Diseases for Loeys-Dietz Syndrome Type 1a

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Symptoms for Loeys-Dietz Syndrome Type 1a

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Drugs & Therapeutics for Loeys-Dietz Syndrome Type 1a

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Sources:
23GTR
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Genetic tests related to Loeys-Dietz Syndrome Type 1a:

id Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome Type 1a23

Anatomical Context for Loeys-Dietz Syndrome Type 1a

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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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Variations for Loeys-Dietz Syndrome Type 1a

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Loeys-Dietz Syndrome Type 1a:

1
id Gene Name Type Significance SNP ID Assembly Location
1TGFBR1NM_004612.2(TGFBR1): c.953T> G (p.Met318Arg)single nucleotide variantPathogenicrs121918710GRCh37Chr 9, 101904965: 101904965
2TGFBR1NM_004612.2(TGFBR1): c.1199A> G (p.Asp400Gly)single nucleotide variantPathogenicrs121918711GRCh37Chr 9, 101908835: 101908835
3TGFBR1NM_004612.2(TGFBR1): c.599C> T (p.Thr200Ile)single nucleotide variantPathogenicrs121918712GRCh37Chr 9, 101900165: 101900165
4TGFBR1NM_004612.2(TGFBR1): c.1460G> C (p.Arg487Pro)single nucleotide variantPathogenicrs113605875GRCh37Chr 9, 101911535: 101911535
5TGFBR1NM_004612.2(TGFBR1): c.722C> T (p.Ser241Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111854391GRCh37Chr 9, 101900288: 101900288
6TGFBR1NM_004612.2(TGFBR1): c.1460G> A (p.Arg487Gln)single nucleotide variantPathogenicrs113605875GRCh37Chr 9, 101911535: 101911535
7TGFBR1NM_004612.2(TGFBR1): c.1459C> T (p.Arg487Trp)single nucleotide variantPathogenicrs111426349GRCh37Chr 9, 101911534: 101911534
8TGFBR1NM_004612.2(TGFBR1): c.521G> T (p.Gly174Val)single nucleotide variantPathogenicrs121918713GRCh37Chr 9, 101894968: 101894968

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

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Sources:
16Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Loeys-Dietz Syndrome Type 1a

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

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet