RAMSVPS
MCID: RTN145
MIFTS: 20

Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis (RAMSVPS)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 58 54 26 76 30 13 74
Ramsvps 58 54 26 76
Familial Retinal Arterial Macroaneurysm 54 26 60
Fram 54 26 60
Retinal Arterial Macroaneurysm and Supravalvular Pulmonic Stenosis 54 60
Macroaneurysm, Arterial, Retinal, with Supravalvular Pulmonic Stenosis 41

Characteristics:

Orphanet epidemiological data:

60
familial retinal arterial macroaneurysm
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
retinal arterial macroaneurysm with supravalvular pulmonic stenosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614224
Orphanet 60 ORPHA284247
MedGen 43 C3280205
SNOMED-CT via HPO 70 258211005 38599001 56786000
UMLS 74 C3280205

Summaries for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 284247Disease definitionFamilial 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.

MalaCards based summary : Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis, also known as ramsvps, is related to human immunodeficiency virus infectious disease and retinoblastoma. 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 related phenotypes are pulmonic stenosis and exudative retinal detachment

Genetics Home Reference : 26 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.

OMIM : 58 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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 human immunodeficiency virus infectious disease 10.3
2 retinoblastoma 10.1

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

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

33
# Description HPO Frequency HPO Source Accession
1 pulmonic stenosis 33 HP:0001642
2 exudative retinal detachment 33 HP:0012231
3 retinal arterial macroaneurysms 33 HP:0025355

Symptoms via clinical synopsis from OMIM:

58
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...

Search Clinical Trials , 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 30 IGFBP7

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

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

42
Eye

Publications for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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