AAT5
MCID: LYS007
MIFTS: 17

Loeys-Dietz Syndrome Type 2a (AAT5) malady

Genetic diseases, Rare diseases categories
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Summaries for Loeys-Dietz Syndrome Type 2a

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Sources:
47OMIM, 33MalaCards
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MalaCards: Loeys-Dietz Syndrome Type 2a, also known as aortic aneurysm, familial thoracic 5, is related to familial thoracic aortic aneurysm and dissection.

Description from OMIM:47 608967

Aliases & Classifications for Loeys-Dietz Syndrome Type 2a

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Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 62UMLS
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Classifications:

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


Aliases & Descriptions:

loeys-dietz syndrome type 2a 43 22
aortic aneurysm, familial thoracic 5 43
loeys-dietz syndrome, type 2a 62
loeys-dietz syndrome 2a 47
lds2a 43
aat5 43


Related Diseases for Loeys-Dietz Syndrome Type 2a

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Loeys-Dietz Syndrome Type 2a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial thoracic aortic aneurysm and dissection10.1

Symptoms for Loeys-Dietz Syndrome Type 2a

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

608967

Clinical features from OMIM:

608967

Drugs & Therapeutics for Loeys-Dietz Syndrome Type 2a

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Loeys-Dietz Syndrome Type 2a

Search NIH Clinical Center for Loeys-Dietz Syndrome Type 2a

Genetic Tests for Loeys-Dietz Syndrome Type 2a

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Sources:
22GTR
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Genetic tests related to Loeys-Dietz Syndrome Type 2a:

id Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome Type 2a22

Anatomical Context for Loeys-Dietz Syndrome Type 2a

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Animal Models for Loeys-Dietz Syndrome Type 2a or affiliated genes

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Publications for Loeys-Dietz Syndrome Type 2a

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Variations for Loeys-Dietz Syndrome Type 2a

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Expression for genes affiliated with Loeys-Dietz Syndrome Type 2a

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Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Loeys-Dietz Syndrome Type 2a.

Pathways for genes affiliated with Loeys-Dietz Syndrome Type 2a

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Compounds for genes affiliated with Loeys-Dietz Syndrome Type 2a

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GO Terms for genes affiliated with Loeys-Dietz Syndrome Type 2a

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Products for genes affiliated with Loeys-Dietz Syndrome Type 2a

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Loeys-Dietz Syndrome Type 2a

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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