RAMSVPS
MCID: RTN145
MIFTS: 18

Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis (RAMSVPS) malady

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

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

Aliases & Descriptions for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis:

Name: Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 54 50 25 66 13 69
Retinal Arterial Macroaneurysm and Supravalvular Pulmonic Stenosis 50 56 29
Familial Retinal Arterial Macroaneurysm 50 25 56
Ramsvps 50 25 66
Fram 50 25 56

Characteristics:

Orphanet epidemiological data:

56
familial retinal arterial macroaneurysm
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

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


Classifications:



External Ids:

OMIM 54 614224
Orphanet 56 ORPHA284247
MedGen 40 C3280205

Summaries for Retinal Arterial Macroaneurysm with Supravalvular Pulmonic...

OMIM : 54 Retinal arterial macroaneurysm is an autosomal recessive condition characterized by the bilateral appearance of... (614224) more...

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

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 : 66 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:

id Related Disease Score Top Affiliating Genes
1 retinitis 9.9

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

Symptoms by clinical synopsis from OMIM:

614224

Clinical features from OMIM:

614224

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

32
id Description HPO Frequency HPO Source Accession
1 pulmonic stenosis 32 HP:0001642
2 exudative retinal detachment 32 HP:0012231

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:

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

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

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

39
Eye, Heart

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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