AAT5
MCID: LYS007
MIFTS: 17

Loeys-Dietz Syndrome Type 2a (AAT5) malady

Genetic diseases, Rare diseases categories

Summaries for Loeys-Dietz Syndrome Type 2a

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Sources:
48OMIM, 34MalaCards
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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:48 608967

Aliases & Classifications for Loeys-Dietz Syndrome Type 2a

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Sources:
44NIH Rare Diseases, 23GTR, 48OMIM, 63UMLS
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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 44 23
aortic aneurysm, familial thoracic 5 44
loeys-dietz syndrome, type 2a 63
loeys-dietz syndrome 2a 48
lds2a 44
aat5 44


Related Diseases for Loeys-Dietz Syndrome Type 2a

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Sources:
18GeneCards, 19GeneDecks
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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:
48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Loeys-Dietz Syndrome Type 2a

Drug clinical trials:

Search ClinicalTrials for Loeys-Dietz Syndrome Type 2a

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

Search CenterWatch for Loeys-Dietz Syndrome Type 2a

Genetic Tests for Loeys-Dietz Syndrome Type 2a

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Sources:
23GTR
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Genetic tests related to Loeys-Dietz Syndrome Type 2a:

id Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome Type 2a23

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:
16Gene 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
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