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...

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 614224

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

About this section
Sources:
48OMIM, 63UMLS, 50Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
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 48
retinal arterial macroaneurysm and supravalvular pulmonic stenosis 50
familial retinal arterial macroaneurysm 50
retinitis pigmentosa 48 63
fram 50


External Ids:

OMIM48 614224

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

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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...

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

614224

Clinical features from OMIM:

614224

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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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...

About this section

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

About this section
Sources:
34MalaCards
See all sources

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

34
Eye

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

About this section

Publications for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

About this section

Variations for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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...

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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...

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

About this section
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