MCID: LYS005
MIFTS: 11

Loeys-Dietz Syndrome Type 1a malady

Rare diseases category
Download this MalaCard

Summaries for Loeys-Dietz Syndrome Type 1a

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Loeys-Dietz Syndrome Type 1a, is also known as loeys-dietz aortic aneurysm syndrome

Aliases & Classifications for Loeys-Dietz Syndrome Type 1a

About this section
Sources:
43NIH Rare Diseases, 22GTR, 62UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

loeys-dietz syndrome type 1a 43 22
loeys-dietz aortic aneurysm syndrome 62
loeys-dietz syndrome type 1 62
lds1a 43


Related Diseases for Loeys-Dietz Syndrome Type 1a

About this section

Symptoms for Loeys-Dietz Syndrome Type 1a

About this section

Drugs & Therapeutics for Loeys-Dietz Syndrome Type 1a

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Loeys-Dietz Syndrome Type 1a

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

Genetic Tests for Loeys-Dietz Syndrome Type 1a

About this section
Sources:
22GTR
See all sources

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

About this section

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

About this section

Publications for Loeys-Dietz Syndrome Type 1a

About this section

Variations for Loeys-Dietz Syndrome Type 1a

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
15Gene Expression Omnibus DataSets
See all sources

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

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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Loeys-Dietz Syndrome Type 1a

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet