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 57 53 25 75 29 13 73
Ramsvps 57 53 25 75
Familial Retinal Arterial Macroaneurysm 53 25 59
Fram 53 25 59
Retinal Arterial Macroaneurysm and Supravalvular Pulmonic Stenosis 53 59
Macroaneurysm, Arterial, Retinal, with Supravalvular Pulmonic Stenosis 40

Characteristics:

Orphanet epidemiological data:

59
familial retinal arterial macroaneurysm
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
retinal arterial macroaneurysm with supravalvular pulmonic stenosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614224
Orphanet 59 ORPHA284247
MedGen 42 C3280205
SNOMED-CT via HPO 69 258211005 56786000 38599001
UMLS 73 C3280205

Summaries for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

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)

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

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.

UniProtKB/Swiss-Prot : 75 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 retinitis 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
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
Cardiovascular Vascular:
pulmonic stenosis, supravalvular


Clinical features from OMIM:

614224

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

32
# Description HPO Frequency HPO Source Accession
1 pulmonic stenosis 32 HP:0001642
2 exudative retinal detachment 32 HP:0012231
3 retinal arterial macroaneurysms 32 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 29 IGFBP7

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

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

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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