FRAM
MCID: RTN145
MIFTS: 16

Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis (FRAM) malady

Genetic diseases, Eye diseases, Cardiovascular diseases, Fetal diseases, Rare diseases categories
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Summaries for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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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. An important gene associated with Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis is IGFBP7 (insulin-like growth factor binding protein 7). Affiliated tissues include eye.

Description from OMIM:47 614224

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

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47OMIM, 62UMLS, 49Orphanet
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Classifications:



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 62
fram 49


External Ids:

OMIM47 614224

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

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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
1retinitis10.3

Symptoms for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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47OMIM
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Symptoms by clinical synopsis from OMIM:

614224

Clinical features from OMIM:

614224

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

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42NIH Clinical Center, 6ClinicalTrials
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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

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

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

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33MalaCards
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MalaCards organs/tissues related to Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis:

33
Eye

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

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Publications for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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Variations for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1GUCA1BNM_002098.5(GUCA1B): c.469G> A (p.Gly157Arg)single nucleotide variantLikely benign, Pathogenicrs121909124GRCh37Chr 6, 42153424: 42153424

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

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2BioGPS, 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...

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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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