MCID: RTN145
MIFTS: 19

Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Fetal diseases

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

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

Name: Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 50 46 24 68 12 66
Retinal Arterial Macroaneurysm and Supravalvular Pulmonic Stenosis 46 52 25
Familial Retinal Arterial Macroaneurysm 46 24 52
 
Ramsvps 46 24 68
Fram 46 24 52

Characteristics:

Orphanet epidemiological data:

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

HPO:

62
retinal arterial macroaneurysm with supravalvular pulmonic stenosis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614224
Orphanet52 ORPHA284247
MedGen35 C3280205

Summaries for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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OMIM:50 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 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 and heart.

Genetics Home Reference:24 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood.

UniProtKB/Swiss-Prot:68 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis: An autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction.

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.0

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 pulmonic stenosis HP:0001642
2 exudative retinal detachment HP:0012231

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

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Interventional clinical trials:

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

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

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Genetic tests related to Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis:

id Genetic test Affiliating Genes
1 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis25

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, Heart

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

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Sources for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet