MCID: RTN179
MIFTS: 24

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 57 75 29 6
Retinal Hemorrhage with Vascular Tortuosity 57 59 75
Tortuosity of Retinal Arteries 59 75
Retinal Arteriolar Tortuosity 59 29
Rator 57 75
Tortuosity, Arteries, Retinal 40
Retinal Arterial Tortuosity 59

Characteristics:

Orphanet epidemiological data:

59
retinal arterial tortuosity
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
retinal arteries, tortuosity of:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 180000
Orphanet 59 ORPHA75326
ICD10 via Orphanet 34 Q14.1
MedGen 42 C1867327
MeSH 44 D012166
SNOMED-CT via HPO 69 263681008 7973008 28998008

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)

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. An important gene associated with Retinal Arteries, Tortuosity of is COL4A1 (Collagen Type IV Alpha 1 Chain). Affiliated tissues include retina, and related phenotypes are visual loss and retinal hemorrhage

UniProtKB/Swiss-Prot : 75 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 11.4
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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 visual loss 32 HP:0000572
2 retinal hemorrhage 32 HP:0000573
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:

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

Anatomical Context for Retinal Arteries, Tortuosity of

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

41
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
4
[Coats' disease and familial retinal arteriolar tortuosity]. ( 2075874 )
1990
5
Retinal arteriolar tortuosity with macular hemorrhage. ( 6830095 )
1983

Variations for Retinal Arteries, Tortuosity of

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

75
# 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
2 COL4A1 NM_001845.5(COL4A1): c.1528G> A (p.Gly510Arg) single nucleotide variant Pathogenic rs267606743 GRCh38 Chromosome 13, 110192222: 110192222

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
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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