FRAM
MCID: RTN145

Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis (FRAM) malady

Eye, Cardiovascular, Fetal, Genetic categories

Summaries for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Sources:
47OMIM, 33MalaCards
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MalaCards: Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis, also known as retinal arterial macroaneurysm and supravalvular pulmonic stenosis, is related to retinitis pigmentosa 48. An important gene associated with Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis is IGFBP7 (insulin-like growth factor binding protein 7).

Description from OMIM:47 614224

Aliases & Classifications for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Sources:
47OMIM, 61UMLS, 49Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Eye, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
retinal arterial macroaneurysm and supravalvular pulmonic stenosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

retinal arterial macroaneurysm with supravalvular pulmonic stenosis 47
retinal arterial macroaneurysm and supravalvular pulmonic stenosis 49
familial retinal arterial macroaneurysm 49
retinitis pigmentosa 48 61
fram 49


External Ids:

OMIM47 614224

Related Diseases for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinitis pigmentosa 4810.4

Clinical Features for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Sources:
47OMIM
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Clinical features from OMIM:

614224

Clinical synopsis from OMIM:

614224

Drugs & Therapeutics for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis

Drug clinical trials:

Search ClinicalTrials for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis

Search NIH Clinical Center for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis

Search CenterWatch for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis

Genetic Tests for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Anatomical Context for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Animal Models for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic... or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Genetic Variations for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Expression for genes affiliated with Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis

Search GEO for disease gene expression data for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis.

Pathways for genes affiliated with Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Compounds for genes affiliated with Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

GO Terms for genes affiliated with Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Products for genes affiliated with Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet