RATOR
MCID: RTN179
MIFTS: 41

Retinal Arteries, Tortuosity of (RATOR)

Categories: Cardiovascular diseases, Eye diseases, Genetic 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 57 72 29 6
Retinal Hemorrhage with Vascular Tortuosity 57 12 58 72
Tortuosity of Retinal Arteries 12 58 72
Retinal Arterial Tortuosity 12 58 15
Rator 57 12 72
Retinal Arteriolar Tortuosity 12 58
Tortuosity, Arteries, Retinal 39
Retinal Hemorrhage 44

Characteristics:

Orphanet epidemiological data:

58
retinal arterial tortuosity
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
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: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111547
OMIM® 57 180000
MeSH 44 D012166
ICD10 via Orphanet 33 Q14.1
Orphanet 58 ORPHA75326
MedGen 41 C1867327
SNOMED-CT via HPO 68 263681008 28998008 7973008

Summaries for Retinal Arteries, Tortuosity of

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Retinal Arteries, Tortuosity of, also known as retinal hemorrhage with vascular tortuosity, is related to col4a1-related familial vascular leukoencephalopathy and brain small vessel disease 1 with or without ocular anomalies. An important gene associated with Retinal Arteries, Tortuosity of is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. The drugs Ranibizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are retinal arteriolar tortuosity and retinal hemorrhage

Disease Ontology : 12 An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has material basis in heterozygous mutation in COL4A1 on chromosome 13q34.

UniProtKB/Swiss-Prot : 72 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:

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 col4a1-related familial vascular leukoencephalopathy 32.6 COL4A2 COL4A1
2 brain small vessel disease 1 with or without ocular anomalies 32.3 COL4A2 COL4A1
3 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 30.3 COL4A2 COL4A1
4 lethal congenital contracture syndrome 5 11.1
5 arterial tortuosity syndrome 10.4
6 head injury 10.3
7 shaken baby syndrome 10.2
8 situs inversus 10.2
9 acquired porencephaly 10.2 COL4A2 COL4A1
10 autosomal dominant alport syndrome 10.1 COL4A2 COL4A1
11 suppression amblyopia 10.1
12 amblyopia 10.1
13 cardiac arrhythmia 10.1
14 migraine with or without aura 1 10.1
15 neural tube defects 10.1
16 factor vii deficiency 10.1
17 coats disease 10.1
18 microvascular complications of diabetes 5 10.1
19 proteinuria, chronic benign 10.1
20 myelomeningocele 10.1
21 mild cognitive impairment 10.1
22 migraine with aura 10.1
23 hydrocephalus 10.1
24 amnestic disorder 10.1
25 alport syndrome 10.1
26 telangiectasis 10.1
27 transient global amnesia 10.1
28 constipation 10.1
29 retinal disease 10.1
30 scotoma 10.1
31 hemorrhage, intracerebral 10.1 COL4A2 COL4A1
32 macular degeneration, age-related, 1 10.1
33 thrombocytopenia 10.1
34 retinal vein occlusion 10.1
35 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.0 COL4A2 COL4A1
36 moyamoya disease 1 10.0
37 col4a1-related disorders 10.0
38 aneurysm 10.0
39 autosomal recessive alport syndrome 10.0 COL4A2 COL4A1
40 papilledema 10.0
41 purpura 10.0
42 meningitis 10.0
43 acute mountain sickness 10.0
44 exudative vitreoretinopathy 1 9.9
45 retinal detachment 9.9
46 ocular motor apraxia 9.9
47 retinoschisis 1, x-linked, juvenile 9.9
48 malaria 9.9
49 intraocular pressure quantitative trait locus 9.9
50 leukemia, acute lymphoblastic 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

Human phenotypes related to Retinal Arteries, Tortuosity of:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
retinal arteriolar tortuosity
episodic loss of vision
retinal hemorrhages

Clinical features from OMIM®:

180000 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinal Arteries, Tortuosity of

Drugs for Retinal Arteries, Tortuosity of (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 2, Phase 3 347396-82-1 459903
2 Angiogenesis Inhibitors Phase 2, Phase 3
3 Fibrinolytic Agents Phase 2, Phase 3
4 Tissue Plasminogen Activator Phase 2, Phase 3
5 Plasminogen Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intravitreal Tissue Plasminogen Activator And Perfluoropropane for Neovascular Age-related Macular Degeneration With Associated Submacular Haemorrhage: a Multi-centre, Randomized, Double-masked, Sham-controlled, Factorial, Feasibility Study Completed NCT01835067 Phase 2, Phase 3 Ranibizumab;C3F8 Gas;tPA
2 Perfluorocarbon Gases for the Repair of Retinal Detachments. Unknown status NCT00161525 Phase 2
3 Use of Subretinal Ranibizumab (Lucentis) in the Management of Submacular Hemorrhage in Neovascular Age-Related Macular Degeneration (AMD) Withdrawn NCT00538538 Phase 1 vitrectomy with subretinal lucentis;vitrectomy with subretinal lucentis
4 Robotic Retinal Dissection Device Trial Completed NCT03052881
5 Sensitivity and Specificity of the Red Reflex Test for Detecting Anterior and Posterior Segment Ophthalmic Pathology in the Pediatric Population Recruiting NCT04125043

Search NIH Clinical Center for Retinal Arteries, Tortuosity of

Cochrane evidence based reviews: retinal hemorrhage

Genetic Tests for Retinal Arteries, Tortuosity of

Genetic tests related to Retinal Arteries, Tortuosity of:

# Genetic test Affiliating Genes
1 Retinal Arteries, Tortuosity of 29 COL4A1

Anatomical Context for Retinal Arteries, Tortuosity of

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

40
Eye, Retina

Publications for Retinal Arteries, Tortuosity of

Articles related to Retinal Arteries, Tortuosity of:

(show all 12)
# Title Authors PMID Year
1
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. 57 6
25228067 2014
2
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. 57 6
20818663 2010
3
Inherited retinal arteriolar tortuosity with retinal hemorrhages. 57
9747676 1998
4
Development of retinal arteriolar tortuosity in previously unaffected family members. 57
3467507 1986
5
Progressive inherited retinal arteriolar tortuosity with spontaneous retinal hemorrhages. 57
4047598 1985
6
[On the clinical picture of familial tortuosity of the small retinal arteries with macular hemorrhage]. 57
5714765 1968
7
[A contribution to familial tortuosity of the small retinal arteries]. 57
13784464 1961
8
Effect of a common diet and regular beverage on enamel erosion in various temperatures: an in-vitro study. 61
24910648 2013
9
Fitness on facebook: advertisements generated in response to profile content. 61
22963337 2012
10
Intra-rator variability of primary care physicians in management of hyperlipidaemia. 61
15171532 2004
11
[Patient activity level plans for personnel scheduling in nursing in-patient units]. 61
8697535 1995
12
The color rator: a new instrument for the assessment of color aptitude in industry. 61
13649869 1959

Variations for Retinal Arteries, Tortuosity of

ClinVar genetic disease variations for Retinal Arteries, Tortuosity of:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL4A1 NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg) SNV Pathogenic 18463 rs267606743 GRCh37: 13:110844569-110844569
GRCh38: 13:110192222-110192222
2 COL4A1 NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) SNV Uncertain significance 447160 rs375318302 GRCh37: 13:110835342-110835342
GRCh38: 13:110182995-110182995
3 COL4A1 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) SNV Uncertain significance 195868 rs145172612 GRCh37: 13:110839625-110839625
GRCh38: 13:110187278-110187278
4 COL4A1 NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) SNV Uncertain significance 289628 rs751749989 GRCh37: 13:110959368-110959368
GRCh38: 13:110307021-110307021
5 COL4A1 NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg) SNV Uncertain significance 1027964 GRCh37: 13:110822932-110822932
GRCh38: 13:110170585-110170585

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

72
# Symbol AA change Variation ID SNP ID
1 COL4A1 p.Gly510Arg VAR_064494 rs267606743

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

Cellular components related to Retinal Arteries, Tortuosity of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10 RTP2 OR7A5 OR51E2 OR51B4 OR3A1 OR2T1
2 integral component of membrane GO:0016021 9.83 RTP2 OR7A5 OR51E2 OR51B4 OR3A1 OR2T1
3 membrane GO:0016020 9.55 RTP2 OR7A5 OR51E2 OR51B4 OR3A1 OR2T1
4 collagen type IV trimer GO:0005587 9.26 COL4A2 COL4A1

Biological processes related to Retinal Arteries, Tortuosity of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.13 OR7A5 OR51E2 OR51B4 OR3A1 OR2T1 OR2J3
2 G protein-coupled receptor signaling pathway GO:0007186 10.07 OR7A5 OR51E2 OR51B4 OR3A1 OR2T1 OR2J3
3 detection of chemical stimulus involved in sensory perception of smell GO:0050911 9.97 OR7A5 OR51E2 OR51B4 OR3A1 OR2T1 OR2J3
4 response to stimulus GO:0050896 9.77 OR7A5 OR51E2 OR51B4 OR3A1 OR2T1 OR2J3
5 sensory perception of smell GO:0007608 9.44 OR7A5 OR51E2 OR51B4 OR3A1 OR2T1 OR2J3
6 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.37 COL4A2 COL4A1

Molecular functions related to Retinal Arteries, Tortuosity of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.77 OR7A5 OR51E2 OR51B4 OR3A1 OR2T1 OR2J3
2 olfactory receptor activity GO:0004984 9.44 OR7A5 OR51E2 OR51B4 OR3A1 OR2T1 OR2J3
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL4A2 COL4A1

Sources for Retinal Arteries, Tortuosity of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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