MCID: RTN179
MIFTS: 21

Retinal Arteries, Tortuosity of

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

Aliases & Classifications for Retinal Arteries, Tortuosity of

MalaCards integrated aliases for Retinal Arteries, Tortuosity of:

Name: Retinal Arteries, Tortuosity of 54 71 29
Retinal Hemorrhage with Vascular Tortuosity 56 71
Tortuosity of Retinal Arteries 56 71
Retinal Arteriolar Tortuosity 56 29
Retinal Arterial Tortuosity 56
Rator 71

Characteristics:

Orphanet epidemiological data:

56
retinal arterial tortuosity
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Miscellaneous:
retinal hemorrhages usually resolve without sequelae
retinal arteriolar tortuosity develops in adolescence and is progressive

Inheritance:
autosomal dominant


HPO:

32
retinal arteries, tortuosity of:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 180000
Orphanet 56 ORPHA75326
ICD10 via Orphanet 34 Q14.1
MedGen 40 C1867327
MeSH 42 D012166
SNOMED-CT via HPO 65 263681008 7973008 28998008

Summaries for Retinal Arteries, Tortuosity of

OMIM : 54
Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by Nischler et al., 2011). (180000)

MalaCards based summary : Retinal Arteries, Tortuosity of, also known as retinal hemorrhage with vascular tortuosity, is related to brain small vessel disease with or without ocular anomalies and angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, and has symptoms including retinal hemorrhage, visual loss and retinal arteriolar tortuosity. An important gene associated with Retinal Arteries, Tortuosity of is COL4A1 (Collagen Type IV Alpha 1 Chain). Affiliated tissues include retina.

UniProtKB/Swiss-Prot : 71 Tortuosity of retinal arteries: A disease characterized by marked tortuosity of second- and third- order retinal arteries with normal first-order arteries and venous system. Most patients manifest variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma.

Related Diseases for Retinal Arteries, Tortuosity of

Diseases related to Retinal Arteries, Tortuosity of via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 brain small vessel disease with or without ocular anomalies 11.9
2 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 11.3
3 retinitis 10.0
4 moyamoya disease 9.8
5 aneurysm 9.8

Graphical network of the top 20 diseases related to Retinal Arteries, Tortuosity of:



Diseases related to Retinal Arteries, Tortuosity of

Symptoms & Phenotypes for Retinal Arteries, Tortuosity of

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
retinal arteriolar tortuosity
retinal hemorrhages
episodic loss of vision


Clinical features from OMIM:

180000

Human phenotypes related to Retinal Arteries, Tortuosity of:

32
id Description HPO Frequency HPO Source Accession
1 retinal hemorrhage 32 HP:0000573
2 visual loss 32 HP:0000572
3 retinal arteriolar tortuosity 32 HP:0001136

Drugs & Therapeutics for Retinal Arteries, Tortuosity of

Search Clinical Trials , NIH Clinical Center for Retinal Arteries, Tortuosity of

Genetic Tests for Retinal Arteries, Tortuosity of

Genetic tests related to Retinal Arteries, Tortuosity of:

id Genetic test Affiliating Genes
1 Retinal Arteries, Tortuosity of 29
2 Retinal Arteriolar Tortuosity 29

Anatomical Context for Retinal Arteries, Tortuosity of

MalaCards organs/tissues related to Retinal Arteries, Tortuosity of:

39
Retina

Publications for Retinal Arteries, Tortuosity of

Variations for Retinal Arteries, Tortuosity of

UniProtKB/Swiss-Prot genetic disease variations for Retinal Arteries, Tortuosity of:

71
id Symbol AA change Variation ID SNP ID
1 COL4A1 p.Gly510Arg VAR_064494

ClinVar genetic disease variations for Retinal Arteries, Tortuosity of:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL4A1 NM_001845.5(COL4A1): c.1528G> A (p.Gly510Arg) single nucleotide variant Pathogenic rs267606743 GRCh37 Chromosome 13, 110844569: 110844569

Expression for Retinal Arteries, Tortuosity of

Search GEO for disease gene expression data for Retinal Arteries, Tortuosity of.

Pathways for Retinal Arteries, Tortuosity of

GO Terms for Retinal Arteries, Tortuosity of

Sources for Retinal Arteries, Tortuosity of

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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