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MCID: ANG004
MIFTS: 40

Angioid Streaks

Categories: Eye diseases, Neuronal diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Angioid Streaks

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MalaCards integrated aliases for Angioid Streaks:

Name: Angioid Streaks 57 12 29 54 44 15 17 71

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:13401
OMIM® 57 607140
MeSH 44 D000793
MedGen 41 C0002982
UMLS 71 C0002982
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Summaries for Angioid Streaks

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MalaCards based summary : Angioid Streaks is related to arterial calcification of infancy and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Angioid Streaks is ABCC6 (ATP Binding Cassette Subfamily C Member 6), and among its related pathways/superpathways are Endochondral Ossification and NOTCH1 regulation of human endothelial cell calcification. Affiliated tissues include retina, skin and endothelial, and related phenotypes are growth/size/body region and cardiovascular system

Wikipedia : 74 Angioid streaks, also called Knapp streaks or Knapp striae are small breaks in Bruch's membrane, an... more...

More information from OMIM: 607140
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Related Diseases for Angioid Streaks

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Diseases related to Angioid Streaks via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 arterial calcification of infancy 30.5 MGP GGCX GALNT3 ENPP1 AHSG ABCC6
2 yemenite deaf-blind hypopigmentation syndrome 30.4 VEGFA CFH
3 pseudoxanthoma elasticum 30.4 XYLT2 XYLT1 VKORC1 VEGFA MGP GGCX
4 macular degeneration, age-related, 1 30.3 VEGFA ELN CFHR2 CFH ARMS2
5 histoplasmosis 30.3 CFH ARMS2
6 multifocal choroiditis 30.2 CFH ARMS2
7 central serous chorioretinopathy 30.2 CFH ARMS2
8 choroiditis 30.0 VEGFA CFH ARMS2
9 connective tissue disease 29.8 VEGFA ELN CFHR2 ABCC6
10 kuhnt-junius degeneration 29.7 VEGFA CFHR2 CFH ARMS2
11 eye disease 29.5 VEGFA CFHR2 CFH ARMS2 ABCC6
12 vascular disease 29.5 VEGFA MGP ELN AHSG
13 fundus dystrophy 29.3 VEGFA ELN CFHR2 CFH ARMS2
14 calcinosis 29.2 MGP GALNT3 ENPP1 AHSG
15 kidney disease 29.1 VEGFA MGP ENPP1 CFH AHSG
16 chronic kidney disease 28.7 VEGFA MGP ENPP1 ELN CFH AHSG
17 angioid streaks of choroid 11.3
18 tumoral calcinosis, hyperphosphatemic, familial, 1 11.2
19 anemia, congenital dyserythropoietic, type iii 11.2
20 mammary paget's disease 10.6
21 optic disk drusen 10.6
22 hemoglobinopathy 10.5
23 thalassemia 10.5
24 ehlers-danlos syndrome 10.5
25 beta-thalassemia 10.4
26 sickle cell disease 10.4
27 sickle cell anemia 10.4
28 microvascular complications of diabetes 5 10.4
29 myopia 10.3
30 hereditary spherocytosis 10.3
31 larsen-like syndrome b3gat3 type 10.3 XYLT2 XYLT1
32 tumoral calcinosis, normophosphatemic, familial 10.3 ENPP1 ABCC6
33 desbuquois dysplasia 10.3 XYLT2 XYLT1
34 abetalipoproteinemia 10.3
35 anemia, congenital dyserythropoietic, type ia 10.3
36 hyperphosphatemia 10.3
37 beta-thalassemia intermedia 10.3
38 acromegaly 10.3
39 bone inflammation disease 10.3
40 paget's disease of bone 10.3
41 elastosis perforans serpiginosa 10.2 ELN ABCC6
42 retinal detachment 10.2
43 sturge-weber syndrome 10.2
44 choroidal dystrophy, central areolar, 1 10.2
45 hemochromatosis, type 1 10.2
46 retinal vein occlusion 10.2
47 optic nerve disease 10.2
48 central retinal vein occlusion 10.2
49 chorioretinitis 10.2
50 familial tumoral calcinosis 10.2

Graphical network of the top 20 diseases related to Angioid Streaks:



Diseases related to Angioid Streaks
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Symptoms & Phenotypes for Angioid Streaks

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Clinical features from OMIM®:

607140 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Angioid Streaks:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 ABCC6 AHSG CDAN1 CFH ENPP1 GALNT3
2 cardiovascular system MP:0005385 10.06 ABCC6 CDAN1 CFH ENPP1 GALNT3 GGCX
3 integument MP:0010771 9.87 ABCC6 ENPP1 GALNT3 GGCX VEGFA VKORC1
4 limbs/digits/tail MP:0005371 9.73 AHSG ENPP1 GALNT3 VEGFA VKORC1 XYLT1
5 muscle MP:0005369 9.7 AHSG CFH ENPP1 GALNT3 MGP VEGFA
6 renal/urinary system MP:0005367 9.5 ABCC6 CFH ENPP1 GALNT3 MGP VEGFA
7 skeleton MP:0005390 9.28 AHSG CDAN1 ENPP1 GALNT3 GGCX MGP
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Drugs & Therapeutics for Angioid Streaks

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 OCT, Visual Outcome and Angiographic Analysis of Choroidal Neovascularization in Six Eyes With Angioid Streaks Treated With a Single Intravitreal Injection of Bevacizumab Unknown status NCT00599820 Phase 3 Intravitreal Bevacizumab
2 Effect of Intravitreal Bevacizumab on Non -Age-Related Macular Degeneration (AMD) Related Choroidal Neovascularization (CNV) Completed NCT00370786 Phase 3 bevacizumab
3 Ranibizumab in Choroidal Neovascularization (CNV) Due to Pseudoxanthoma Elasticum (PXE, Groenblad-Strandberg-Syndrome) Completed NCT00510965 Phase 2 Intravitreal injection ranibizumab
4 Ranibizumab Therapy for Choroidal Neovascularization Associated With Angioid Streaks Withdrawn NCT01015495 Phase 1, Phase 2 ranibizumab
5 Phase II Study Evaluating the Efficacy of Aflibercept for the Treatment of Choroidal Neovascularization in Angioid Streaks in Young Patients. Withdrawn NCT02573038 Phase 2 Aflibercept
6 Intravitreal Bevacizumab for Choroidal Neovascularization Secondary to Angioid Streaks: 24 Months Follow-up Completed NCT00406250 Phase 1 intravitreal injection;intravitreal injection
7 Evolution of Visual Impairment During Pseudoxanthoma Elasticum Completed NCT00555113
8 Collaborative Ocular Antiangiogenic Study of Ukraine. Multicentral, Open-label, Randomized, Prospective Study of Antiangiogenic Therapy of Choroidal Neovascularisation Associated With Angioid Streaks Recruiting NCT04119219
9 Pilot Study of Intravitreal Bevacizumab vs. Combination Therapy for Choroidal Neovascularization Secondary to Causes Other Than Age-related Macular Degeneration Withdrawn NCT01256580 Bevacizumab (Avastin; Genentech, Inc.);Bevacizumab, Dexamethasone, Verteporfin Photodynamic Therapy

Search NIH Clinical Center for Angioid Streaks

Cochrane evidence based reviews: angioid streaks

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Genetic Tests for Angioid Streaks

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Genetic tests related to Angioid Streaks:

# Genetic test Affiliating Genes
1 Angioid Streaks 29
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Anatomical Context for Angioid Streaks

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MalaCards organs/tissues related to Angioid Streaks:

40
Retina, Skin, Endothelial, Eye, Pituitary, Bone, Brain
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Publications for Angioid Streaks

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Articles related to Angioid Streaks:

(show top 50) (show all 640)
# Title Authors PMID Year
1
Photodynamic therapy with verteporfin for choroidal neovascularization in patients with angioid streaks. 57 61
12208247 2002
2
Angioid streaks associated with abetalipoproteinemia. 57 61
7749670 1994
3
Angioid streaks in homozygous beta thalassemia. 57 61
2801854 1989
4
Angioid streaks. 57 61
7046115 1982
5
Angioid streaks in Ehlers-Danlos syndrome. 57 61
5945174 1966
6
Angioid streaks and sicklecell disease. 57 61
13827077 1960
7
Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. 57
6959555 1982
8
Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks. 54 61
19284998 2009
9
[What can we learn from molecular genetic analyses of inherited eye diseases?]. 61 54
17134037 2006
10
[Mendelian arterial diseases. Pseudoxanthoma elasticum, Ehlers-Danlos vascular syndrome, Rendu-Osler disease]. 54 61
14694786 2003
11
Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family. 61 54
12271376 2002
12
Contribution of OCT angiography in angioid streaks. 61
33423815 2021
13
Angioid Streaks in Acquired Hemochromatosis. 61
33413797 2021
14
Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum. 61
33316262 2020
15
The Extent of Angioid Streaks Correlates With Macular Degeneration in Pseudoxanthoma Elasticum. 61
32702361 2020
16
A Multiple Evanescent White Dot Syndrome-like Reaction to Concurrent Retinal Insults. 61
33348087 2020
17
Irregular vascular network identified with OCT-A in angioid streaks: A probable predictor of active choroidal neovascularization (case series). 61
33339473 2020
18
Angioid streaks and optic disc drusen in cherubism: a case report. 61
33470282 2020
19
Pseudoxanthoma Elasticum overlaps Hereditary Spastic Paraplegia Type 56. 61
33107650 2020
20
Non-exudative macular neovascularization in pseudoxanthoma elasticum. 61
33074374 2020
21
Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant. 61
32442430 2020
22
Hickam's Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient. 61
32664777 2020
23
Polypoidal choroidal vasculopathy in a patient with angioid streaks treated by bevacizumab. 61
33479949 2020
24
Angioid streaks secondary to homozygous sickle cell disease. 61
32600990 2020
25
Long-term results of choroidal neovascularization secondary to angioid streaks. 61
32472199 2020
26
GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. 61
33000479 2020
27
Retinal findings in carriers of monoallelic ABCC6 mutations. 61
30923132 2020
28
Goosebumps and angioid streaks in a patient with cerebrovascular disease. 61
32620498 2020
29
Retinal Pigment Epithelium Activation in Angioid Streaks Imaged With En Face Optical Coherence Tomography. 61
32453065 2020
30
Erratum to "Visual Dermatology: Cobblestone Skin, Angioid Streaks and Gastrointestinal Hemorrhage". 61
32635748 2020
31
Intravitreal aflibercept for management of choroidal neovascularization secondary to angioid streaks: The Italian EYLEA-STRIE study. 61
32483995 2020
32
Bilateral angioid streaks with choroidal neovascular membranes. 61
32156486 2020
33
Pseudoxanthoma elasticum and angioid streaks. 61
32502256 2020
34
Tomographic characteristics of focal choroidal excavation and its association with retinal disorders. 61
32452223 2020
35
One-year outcomes of anti-vascular endothelial growth factor therapy in peripapillary choroidal neovascularisation. 61
31401554 2020
36
Long-term follow-up of management of choroidal neovascularisation secondary to angioid streaks with intravitreal anti-vascular endothelial growth factor. 61
32461565 2020
37
Visual Dermatology: Cobblestone Skin, Angioid Streaks, and Gastrointestinal Hemorrhage. 61
32421427 2020
38
Switching from ranibizumab to aflibercept in choroidal neovascularization secondary to angioid streaks. 61
30880436 2020
39
Giant Idiopathic Angioid Streaks. 61
32308959 2020
40
Angioid streaks and obstructive sleep apnea syndrome: are they related? 61
32301031 2020
41
LONG-TERM RESULTS OF AUTOLOGOUS RETINAL PIGMENT EPITHELIUM AND CHOROID TRANSPLANTATION FOR THE TREATMENT OF EXUDATIVE AND ATROPHIC MACULOPATHIES. 61
30608346 2020
42
IS VAGINAL DELIVERY HARMFUL TO PATIENTS WITH PSEUDOXANTHOMA ELASTICUM? 61
32205712 2020
43
Aflibercept for choroidal neovascularizations secondary to pseudoxanthoma elasticum: a prospective study. 61
31863395 2020
44
MULTIMODAL IMAGING OF ANGIOID STREAKS ASSOCIATED WITH TURNER SYNDROME. 61
29443807 2020
45
Multimodal imaging of angioid streaks. 61
32884892 2020
46
[Anti-VEGF therapy in the treatment of neovascularization secondary to angioid streaks (a case report)]. 61
32880143 2020
47
Identification of hyperreflective foci in angioid streaks. 61
31278381 2019
48
Angioid Streaks and Other Retinopathy in Pseudoxanthoma Elasticum. 61
31600377 2019
49
A rare case of focal choroidal excavation associated choroidal neovascularization in angioid streaks. 61
31902999 2019
50
Confirmation That Angioid Streaks Are Not Common in Ehlers-Danlos Syndrome. 61
31556922 2019
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Variations for Angioid Streaks

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Expression for Angioid Streaks

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Search GEO for disease gene expression data for Angioid Streaks.
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Pathways for Angioid Streaks

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Pathways related to Angioid Streaks according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Endochondral Ossification 1
10.94 VEGFA MGP ENPP1
2
NOTCH1 regulation of human endothelial cell calcification 1
10.41 VEGFA MGP
3
Warfarin Pathway, Pharmacodynamics 60
9.98 VKORC1 MGP GGCX
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GO Terms for Angioid Streaks

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Cellular components related to Angioid Streaks according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.28 XYLT2 XYLT1 VEGFA MGP ENPP1 ELN
2 extracellular matrix GO:0031012 9.26 VEGFA MGP ELN AHSG

Biological processes related to Angioid Streaks according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chondroitin sulfate biosynthetic process GO:0030206 9.46 XYLT2 XYLT1
2 proteoglycan biosynthetic process GO:0030166 9.43 XYLT2 XYLT1
3 negative regulation of bone mineralization GO:0030502 9.4 ENPP1 AHSG
4 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.37 XYLT2 XYLT1
5 glycosaminoglycan metabolic process GO:0030203 9.32 XYLT2 XYLT1
6 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.26 XYLT2 XYLT1
7 inorganic diphosphate transport GO:0030505 9.16 ENPP1 ABCC6
8 peptidyl-glutamic acid carboxylation GO:0017187 8.96 VKORC1 GGCX
9 regulation of bone mineralization GO:0030500 8.8 MGP ENPP1 AHSG

Molecular functions related to Angioid Streaks according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 8.96 VEGFA ELN
2 protein xylosyltransferase activity GO:0030158 8.62 XYLT2 XYLT1
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Sources for Angioid Streaks

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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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