MCID: FML220

Familial Retinal Arterial Macroaneurysm malady

Genetic diseases, Eye diseases, Cardiovascular diseases, Fetal diseases, Rare diseases categories

Summaries for Familial Retinal Arterial Macroaneurysm

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MalaCards based summary: Familial Retinal Arterial Macroaneurysm, also known as retinal arterial macroaneurysm and supravalvular pulmonic stenosis, is related to retinitis. An important gene associated with Familial Retinal Arterial Macroaneurysm is IGFBP7 (insulin-like growth factor binding protein 7). Affiliated tissues include eye.

Aliases & Classifications for Familial Retinal Arterial Macroaneurysm

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Familial Retinal Arterial Macroaneurysm, Aliases & Descriptions:

Name: Familial Retinal Arterial Macroaneurysm 47
Retinal Arterial Macroaneurysm and Supravalvular Pulmonic Stenosis 47
 
Fram 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
retinal arterial macroaneurysm and supravalvular pulmonic stenosis:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

Orphanet47 284247

Related Diseases for Familial Retinal Arterial Macroaneurysm

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Diseases related to Familial Retinal Arterial Macroaneurysm via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.3

Symptoms for Familial Retinal Arterial Macroaneurysm

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Drugs & Therapeutics for Familial Retinal Arterial Macroaneurysm

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Drug clinical trials:

Search ClinicalTrials for Familial Retinal Arterial Macroaneurysm

Search NIH Clinical Center for Familial Retinal Arterial Macroaneurysm

Genetic Tests for Familial Retinal Arterial Macroaneurysm

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Anatomical Context for Familial Retinal Arterial Macroaneurysm

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MalaCards organs/tissues related to Familial Retinal Arterial Macroaneurysm:

31
Eye

Animal Models for Familial Retinal Arterial Macroaneurysm or affiliated genes

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Publications for Familial Retinal Arterial Macroaneurysm

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Articles related to Familial Retinal Arterial Macroaneurysm:

idTitleAuthorsYear
1
Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms. (21835307)
2011

Variations for Familial Retinal Arterial Macroaneurysm

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Expression for genes affiliated with Familial Retinal Arterial Macroaneurysm

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Search GEO for disease gene expression data for Familial Retinal Arterial Macroaneurysm.

Pathways for genes affiliated with Familial Retinal Arterial Macroaneurysm

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Compounds for genes affiliated with Familial Retinal Arterial Macroaneurysm

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GO Terms for genes affiliated with Familial Retinal Arterial Macroaneurysm

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Products for genes affiliated with Familial Retinal Arterial Macroaneurysm

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Familial Retinal Arterial Macroaneurysm

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet