MCID: RTN179
MIFTS: 23

Retinal Arteries, Tortuosity of

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

Aliases & Classifications for Retinal Arteries, Tortuosity of

MalaCards integrated aliases for Retinal Arteries, Tortuosity of:

Name: Retinal Arteries, Tortuosity of 53 71 28
Retinal Hemorrhage with Vascular Tortuosity 53 55 71
Tortuosity of Retinal Arteries 55 71
Retinal Arteriolar Tortuosity 55 28
Rator 53 71
Retinal Arterial Tortuosity 55

Characteristics:

Orphanet epidemiological data:

55
retinal arterial tortuosity
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
retinal arteries, tortuosity of:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 180000
Orphanet 55 ORPHA75326
ICD10 via Orphanet 33 Q14.1
MedGen 39 C1867327
MeSH 41 D012166
SNOMED-CT via HPO 65 263681008 7973008 28998008

Summaries for Retinal Arteries, Tortuosity of

OMIM : 53 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 visual loss, retinal arteriolar tortuosity and retinal hemorrhage. 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:

# Related Disease Score Top Affiliating Genes
1 brain small vessel disease with or without ocular anomalies 12.1
2 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 11.5
3 retinitis 10.1
4 moyamoya disease 1 9.9
5 aneurysm 9.9

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:

53
Head And Neck Eyes:
episodic loss of vision
retinal hemorrhages
retinal arteriolar tortuosity


Clinical features from OMIM:

180000

Human phenotypes related to Retinal Arteries, Tortuosity of:

31
# Description HPO Frequency HPO Source Accession
1 visual loss 31 HP:0000572
2 retinal arteriolar tortuosity 31 HP:0001136
3 retinal hemorrhage 31 HP:0000573

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:

# Genetic test Affiliating Genes
1 Retinal Arteries, Tortuosity of 28 COL4A1
2 Retinal Arteriolar Tortuosity 28

Anatomical Context for Retinal Arteries, Tortuosity of

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

38
Retina

Publications for Retinal Arteries, Tortuosity of

Articles related to Retinal Arteries, Tortuosity of:

# Title Authors Year
1
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. ( 25228067 )
2014
2
Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome. ( 15882279 )
2005
3
Factor VII deficiency in a patient with retinal arteriolar tortuosity syndrome. ( 11116692 )
2000

Variations for Retinal Arteries, Tortuosity of

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

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

ClinVar genetic disease variations for Retinal Arteries, Tortuosity of:

6
# 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
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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