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 49 11 45 23 67 65
Retinal Arterial Macroaneurysm and Supravalvular Pulmonic Stenosis 45 51 24
Familial Retinal Arterial Macroaneurysm 45 23 51
 
Ramsvps 45 23 67
Fram 45 23 51

Characteristics:

Orphanet epidemiological data:

51
retinal arterial macroaneurysm and supravalvular pulmonic stenosis:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

61
retinal arterial macroaneurysm with supravalvular pulmonic stenosis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 614224
Orphanet51 284247
MedGen34 C3280205
UMLS65 C3280205

Summaries for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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OMIM:49 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 sleeping sickness and spasmodic dysphonia, and has symptoms including pulmonic stenosisand 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:23 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:67 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
1sleeping sickness10.3
2spasmodic dysphonia10.3

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 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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet