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

Summaries for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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OMIM:46 Retinal arterial macroaneurysm is an autosomal recessive condition characterized by the bilateral appearance of...614224 more...

MalaCards based summary: Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis, also known as retinal arterial macroaneurysm and supravalvular pulmonic stenosis, is related to retinitis, and has symptoms including autosomal recessive inheritance, pulmonic stenosis and exudative retinal detachment. 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.

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

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Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis, Aliases & Descriptions:

Name: Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 46 61
Retinal Arterial Macroaneurysm and Supravalvular Pulmonic Stenosis 48
 
Familial Retinal Arterial Macroaneurysm 48
Fram 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
retinal arterial macroaneurysm and supravalvular pulmonic stenosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

OMIM46 614224

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

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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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Symptoms by clinical synopsis from OMIM:

614224

Clinical features from OMIM:

614224

HPO human phenotypes related to Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 pulmonic stenosis HP:0001642
3 exudative retinal detachment HP:0012231

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

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

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

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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
  • Proteins
  • Kits and Assays

Sources for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet