RAMSVPS
MCID: RTN145
MIFTS: 29

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 56 52 25 73 29 13 71
Ramsvps 56 52 25 73
Familial Retinal Arterial Macroaneurysm 52 25 58
Fram 52 25 58
Retinal Arterial Macroaneurysm and Supravalvular Pulmonic Stenosis 52 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:

56
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 56 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...

Genetics Home Reference : 25 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 pulmonic stenosis and lipid metabolism disorder. An important gene associated with Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis is IGFBP7 (Insulin Like Growth Factor Binding Protein 7). The drugs Methylene blue and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and heart, and related phenotypes are pulmonic stenosis and exudative retinal detachment

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 284247 Definition Familial 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 : 56 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)

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 13)
# Related Disease Score Top Affiliating Genes
1 pulmonic stenosis 10.5
2 lipid metabolism disorder 10.3
3 atherosclerosis susceptibility 10.1
4 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
5 cardiovascular system disease 10.1
6 vascular disease 10.1
7 human immunodeficiency virus infectious disease 10.1
8 kidney disease 10.1
9 end stage renal failure 10.1
10 viral infectious disease 10.1
11 retinal detachment 10.1
12 coats disease 10.1
13 pulmonary supravalvular stenosis 10.1

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:

56
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

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

Drugs for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Approved, Investigational 61-73-4
2
Sodium citrate Approved, Investigational 68-04-2
3
Esomeprazole Approved, Investigational 161973-10-0, 161796-78-7, 119141-88-7 4594 9568614
4
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
5
Calcium Approved, Nutraceutical 7440-70-2 271
6 Mosapride Investigational 112885-41-3
7 Serotonin Receptor Agonists
8 Neurotransmitter Agents
9 Anti-Ulcer Agents
10 Gastrointestinal Agents
11 Anticoagulants
12 Citrate
13 Chelating Agents
14 Serotonin Agents
15 Calcium, Dietary
16 Antacids
17 Proton Pump Inhibitors
18
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation the Effects of Intra-articular Injection of Mesenchymal Stem Cells and Stromal Vascular Fraction Patients With Knee Joint Osteoarthritis, Triple Blind Randomized Clinical Trial Not yet recruiting NCT03164083 Phase 2
2 Cooperative Group for Clinical Research in G-POEM (POP), Jiangsu, China Unknown status NCT03040817 Esomeprazole + Mosapride
3 Fat Redistribution and Metabolic Change in HIV Infection (FRAM) Unknown status NCT00331448
4 Redistribution and Metabolic Change in HIV Infection: Protocol 2 (FRAM Fat 2) Completed NCT00244803
5 Screening Patients Admitted With Stroke or TIA for Carotid Stenosis by Pocked-Sized Ultrasound in Inexperienced Hands and With Novel Doppler Technology Completed NCT02992821

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, Retina, Heart, Lung

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. 56
21835307 2011
2
Familial retinal arterial macroaneurysms. 56
12441727 2002
3
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome. 61
31730227 2019

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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