MCID: RTN145
MIFTS: 22

Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Fetal 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 53 49 24 71 28 13 69
Ramsvps 53 49 24 71
Familial Retinal Arterial Macroaneurysm 49 24 55
Fram 49 24 55
Retinal Arterial Macroaneurysm and Supravalvular Pulmonic Stenosis 49 55

Characteristics:

Orphanet epidemiological data:

55
familial retinal arterial macroaneurysm
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 53 614224
Orphanet 55 ORPHA284247
MedGen 39 C3280205
SNOMED-CT via HPO 65 258211005 56786000 38599001
UMLS 69 C3280205

Summaries for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

OMIM : 53 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)

MalaCards based summary : Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis, also known as ramsvps, is related to retinitis, and has symptoms including pulmonic stenosis, exudative retinal detachment and retinal arterial macroaneurysms. 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.

UniProtKB/Swiss-Prot : 71 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.

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.

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 retinitis 10.0

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

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEyes:
retinal arterial beading along all 4 retinal arterial trunks
retinal arterial macroaneurysms, multiple, developing at sites of beading
exudative maculopathy
exudative retinal detachment
hemorrhage beneath internal limiting membrane due to leaking macroaneurysms
more
CardiovascularVascular:
pulmonic stenosis, supravalvular


Clinical features from OMIM:

614224

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

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 28 IGFBP7

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

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

38
Eye, Heart

Publications for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

Articles related to Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis:

# Title Authors Year
1
Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms. ( 21835307 )
2011

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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