RAMSVPS
MCID: RTN145
MIFTS: 26

Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis (RAMSVPS)

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

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

MalaCards integrated aliases for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis:

Name: Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 57 20 43 73 29 13 71
Ramsvps 57 20 43 73
Familial Retinal Arterial Macroaneurysm 20 43 58
Fram 20 43 58
Retinal Arterial Macroaneurysm and Supravalvular Pulmonic Stenosis 20 58
Macroaneurysm, Arterial, Retinal, with Supravalvular Pulmonic Stenosis 39

Characteristics:

Orphanet epidemiological data:

58
familial retinal arterial macroaneurysm
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
retinal arterial macroaneurysm with supravalvular pulmonic stenosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 614224
Orphanet 58 ORPHA284247
MedGen 41 C3280205
SNOMED-CT via HPO 68 258211005 38599001 56786000
UMLS 71 C3280205

Summaries for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

MedlinePlus Genetics : 43 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.RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). These arteries gradually develop multiple small bulges called beading. Eventually, larger bulges in the blood vessel walls (macroaneurysms) occur. These macroaneurysms can tear (rupture), leading to bleeding that can spread into other areas of the eye and cause vision loss.People with RAMSVPS also have a heart condition called supravalvular pulmonic stenosis. Pulmonic stenosis is a narrowing that affects the pulmonic valve between the heart and the lungs. The term "supravalvular" means that the narrowing occurs just above the valve, in a blood vessel called the pulmonary artery. Supravalvular pulmonic stenosis impairs blood flow into the lungs, where blood normally picks up oxygen for distribution to cells and tissues throughout the body. As a result, less oxygen is carried through the bloodstream, leading to signs and symptoms that include shortness of breath; a rapid heartbeat; fatigue; and swelling in the face, feet, or abdomen.

MalaCards based summary : Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis, also known as ramsvps, is related to macular retinal edema and atherosclerosis susceptibility. 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, heart and retina, and related phenotypes are pulmonic stenosis and exudative retinal detachment

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 284247DefinitionFamilial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.Visit the Orphanet disease page for more resources.

OMIM® : 57 Retinal arterial macroaneurysm is 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 (summary by Abu-Safieh et al., 2011). (614224) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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...

Diseases related to Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 macular retinal edema 10.1
2 atherosclerosis susceptibility 10.0
3 lipid metabolism disorder 10.0
4 immune deficiency disease 9.9
5 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.9
6 cardiovascular system disease 9.9
7 vascular disease 9.9
8 severe acute respiratory syndrome 9.9
9 human immunodeficiency virus infectious disease 9.9
10 kidney disease 9.9
11 viral infectious disease 9.9

Graphical network of the top 20 diseases related to Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis:



Diseases related to Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis

Symptoms & Phenotypes for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Human phenotypes related to Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis:

31
# Description HPO Frequency HPO Source Accession
1 pulmonic stenosis 31 HP:0001642
2 exudative retinal detachment 31 HP:0012231
3 retinal arterial macroaneurysms 31 HP:0025355

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
exudative retinal detachment
retinal arterial beading along all 4 retinal arterial trunks
retinal arterial macroaneurysms, multiple, developing at sites of beading
exudative maculopathy
hemorrhage beneath internal limiting membrane due to leaking macroaneurysms
more
Cardiovascular Vascular:
pulmonic stenosis, supravalvular

Clinical features from OMIM®:

614224 (Updated 05-Mar-2021)

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fat Redistribution and Metabolic Change in HIV Infection (FRAM) Unknown status NCT00331448
2 Redistribution and Metabolic Change in HIV Infection: Protocol 2 (FRAM Fat 2) Completed NCT00244803

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

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

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

# Genetic test Affiliating Genes
1 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 29 IGFBP7

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

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

40
Eye, Heart, Retina

Publications for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Articles related to Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis:

# Title Authors PMID Year
1
Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms. 57
21835307 2011
2
Familial retinal arterial macroaneurysms. 57
12441727 2002
3
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome. 61
31730227 2020

Variations for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Expression for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Search GEO for disease gene expression data for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis.

Pathways for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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

Sources for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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