SCRA
MCID: SVN002
MIFTS: 35

Sveinsson Chorioretinal Atrophy (SCRA)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Sveinsson Chorioretinal Atrophy

MalaCards integrated aliases for Sveinsson Chorioretinal Atrophy:

Name: Sveinsson Chorioretinal Atrophy 57 12 59 74 37 29 6 40 72
Atrophia Areata 57 12 59 74
Scra 57 12 59 74
Hpcd 57 12 74
Peripapillary Chorioretinal Degeneration, Icelandic Type 57 12
Helicoidal Peripapillary Chorioretinal Degeneration 57 74
Helicoid Peripapillary Chorioretinal Degeneration 12 59
Aa 57 74
Helicoidal Peripapillary Chorioretinal Degeneration; Hpcd 57
Atrophia Areata; Aa 57

Characteristics:

Orphanet epidemiological data:

59
helicoid peripapillary chorioretinal degeneration
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
sveinsson chorioretinal atrophy:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111228
OMIM 57 108985
KEGG 37 H01180
ICD10 via Orphanet 34 H31.2
UMLS via Orphanet 73 C1862382
Orphanet 59 ORPHA86813
MedGen 42 C1862382
UMLS 72 C1862382

Summaries for Sveinsson Chorioretinal Atrophy

KEGG : 37
Sveinsson chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration (HPCD), is a distinct autosomal dominant disease affecting both eyes characterized clinically by bilateral, well defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress throughout life, sometimes leading to central visual loss. Clinical findings suggest that the expansion of the degenerative lesions is caused by dysplastic abnormalities of the peripapillary retinal pigment epithelium (RPE) and the mechanical tearing of the RPE layer owing to the growth of the globe. Patients with SCRA have a mutation in the TEAD1 gene.

MalaCards based summary : Sveinsson Chorioretinal Atrophy, also known as atrophia areata, is related to amyloidosis aa and helsmoortel-van der aa syndrome. An important gene associated with Sveinsson Chorioretinal Atrophy is TEAD1 (TEA Domain Transcription Factor 1), and among its related pathways/superpathways is Hippo signaling pathway. Affiliated tissues include eye, retina and tongue, and related phenotypes are myopia and astigmatism

Disease Ontology : 12 An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has material basis in heterozygous muation in TEAD1 on 11p15.3.

UniProtKB/Swiss-Prot : 74 Sveinsson chorioretinal atrophy: Characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid.

More information from OMIM: 108985

Related Diseases for Sveinsson Chorioretinal Atrophy

Diseases related to Sveinsson Chorioretinal Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 552)
# Related Disease Score Top Affiliating Genes
1 amyloidosis aa 12.7
2 helsmoortel-van der aa syndrome 12.7
3 aplastic anemia 12.2
4 alopecia areata 12.2
5 adnp syndrome 12.0
6 aarskog-scott syndrome 12.0
7 williams-beuren region duplication syndrome 11.8
8 adnp-related intellectual disability and autism spectrum disorder 11.5
9 renal nutcracker syndrome 11.4
10 superior mesenteric artery syndrome 11.3
11 7q11.23 duplication syndrome 11.3
12 amyloidosis, hereditary, transthyretin-related 11.2
13 amyloidosis 11.0
14 nephrotic syndrome 10.6
15 familial mediterranean fever 10.5
16 al amyloidosis 10.4
17 alcohol dependence 10.4
18 end stage renal failure 10.4
19 abetalipoproteinemia 10.3
20 eye disease 10.3
21 myopia 10.3
22 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.3
23 rheumatoid arthritis 10.3
24 pica disease 10.3
25 diarrhea 10.3
26 spondyloarthropathy 1 10.2
27 inflammatory spondylopathy 10.2
28 spondylitis 10.2
29 alopecia 10.2
30 alzheimer disease 10.2
31 glomerulonephritis 10.2
32 astigmatism 10.2
33 refractive error 10.2
34 kidney disease 10.2
35 thrombophlebitis 10.2
36 postherpetic neuralgia 10.2
37 arthritis 10.2
38 renal cell carcinoma, nonpapillary 10.1
39 crohn's disease 10.1
40 pelvic organ prolapse 10.1
41 vasculitis 10.1
42 periodic fever, familial, autosomal dominant 10.1
43 juvenile rheumatoid arthritis 10.1
44 castleman disease 10.1
45 periodontitis 10.1
46 autoimmune disease 10.0
47 systemic lupus erythematosus 10.0
48 insulin-like growth factor i 10.0
49 thalassemia 10.0
50 alcohol use disorder 10.0

Graphical network of the top 20 diseases related to Sveinsson Chorioretinal Atrophy:



Diseases related to Sveinsson Chorioretinal Atrophy

Symptoms & Phenotypes for Sveinsson Chorioretinal Atrophy

Human phenotypes related to Sveinsson Chorioretinal Atrophy:

32
# Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 astigmatism 32 HP:0000483
3 peripapillary chorioretinal atrophy 32 HP:0007950

Symptoms via clinical synopsis from OMIM:

57
Eyes:
peripapillary chorioretinal atrophy
combined myopia and astigmatism

Misc:
slowly progressive

Clinical features from OMIM:

108985

Drugs & Therapeutics for Sveinsson Chorioretinal Atrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Promoting Smoking Cessation for Female Smokers in Hong Kong Through Training Female Youth Smoking Cessation and Reduction Ambassadors (SCRA) Completed NCT02755740

Search NIH Clinical Center for Sveinsson Chorioretinal Atrophy

Genetic Tests for Sveinsson Chorioretinal Atrophy

Genetic tests related to Sveinsson Chorioretinal Atrophy:

# Genetic test Affiliating Genes
1 Sveinsson Chorioretinal Atrophy 29 TEAD1

Anatomical Context for Sveinsson Chorioretinal Atrophy

MalaCards organs/tissues related to Sveinsson Chorioretinal Atrophy:

41
Eye, Retina, Tongue, Cortex

Publications for Sveinsson Chorioretinal Atrophy

Articles related to Sveinsson Chorioretinal Atrophy:

(show top 50) (show all 87)
# Title Authors PMID Year
1
A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration). 38 8 71
15016762 2004
2
A Sveinsson's chorioretinal atrophy-associated missense mutation in mouse Tead1 affects its interaction with the co-factors YAP and TAZ. 38 71
17689488 2007
3
Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration: first histopathology report. 38 8
17339054 2007
4
Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15. 8
7795606 1995
5
Atrophia areata. A variant of peripapillary chorioretinal degeneration. 8
7315221 1981
6
Helicoidal peripapillary chorioretinal degeneration. 8
419979 1979
7
A curious affection of the fundus oculi: helicoid peripapillar chorioretinal degeneration. Its relation to pigmentary paravenous chorioretinal degeneration. 8
13959112 1962
8
In vitro determination of the CB1 efficacy of illicit synthetic cannabinoids. 38
31412133 2019
9
Report on the SCRA Nuts and Bolts Workshop II: case studies of citrus greening, Ultra-low Gossypol Cotton, and blight tolerant, low-acrylamide potato. 38
31311388 2019
10
The chemistry and pharmacology of putative synthetic cannabinoid receptor agonist (SCRA) new psychoactive substances (NPS) 5F-PY-PICA, 5F-PY-PINACA, and their analogs. 38
30838752 2019
11
Streptococcus mutans transcriptome in the presence of sodium fluoride and sucrose. 38
31071638 2019
12
Quantification of Herbal Mixtures Containing Cumyl-PEGACLONE-Is Inhomogeneity Still an Issue? 38
31044247 2019
13
CUMYL-4CN-BINACA Is an Efficacious and Potent Pro-Convulsant Synthetic Cannabinoid Receptor Agonist. 38
31191320 2019
14
Enantiospecific Synthesis, Chiral Separation, and Biological Activity of Four Indazole-3-Carboxamide-Type Synthetic Cannabinoid Receptor Agonists and Their Detection in Seized Drug Samples. 38
31157203 2019
15
Spicing it up - synthetic cannabinoid receptor agonists and psychosis - a systematic review. 38
30454908 2018
16
Suspected synthetic cannabinoid receptor agonist intoxication: Does analysis of samples reflect the presence of suspected agents? 38
30595429 2018
17
Synthetic cannabinoid use among a sample of individuals enrolled in community-based recovery programs: Are synthetic cannabinoids actually preferred to other drugs? 38
30457960 2018
18
Evolution of clinical characteristics and outcomes of synthetic cannabinoid receptor agonist exposure in the United States: analysis of National Poison Data System data from 2010 to 2015. 38
29806885 2018
19
Human Toxicity Caused by Indole and Indazole Carboxylate Synthetic Cannabinoid Receptor Agonists: From Horizon Scanning to Notification. 38
29038156 2018
20
A cloud on the horizon-a survey into the use of electronic vaping devices for recreational drug and new psychoactive substance (NPS) administration. 38
29025078 2018
21
The Beneficial Effects of Cognitive Training With Simple Calculation and Reading Aloud (SCRA) in the Elderly Postoperative Population: A Pilot Randomized Controlled Trial. 38
29643802 2018
22
The Chemistry and Pharmacology of Synthetic Cannabinoid Receptor Agonist New Psychoactive Substances: Evolution. 38
30105473 2018
23
The Chemistry and Pharmacology of Synthetic Cannabinoid Receptor Agonists as New Psychoactive Substances: Origins. 38
29980914 2018
24
Sveinsson Chorioretinal Atrophy: Helicoid Peripapillary Chorioretinal Degeneration. 38
29049677 2017
25
Genetic polymorphism of scrA gene of Streptococcus mutans isolates is not associated with biofilm formation in severe early childhood caries. 38
28705197 2017
26
n-Butanol production from sucrose and sugarcane juice by engineered Clostridium tyrobutyricum overexpressing sucrose catabolism genes and adhE2. 38
28258996 2017
27
Increases in synthetic cannabinoids-related harms: Results from a longitudinal web-based content analysis. 38
28578250 2017
28
The impact of Australian legislative changes on synthetic cannabinoid exposures reported to the New South Wales Poisons Information Centre. 38
28343112 2017
29
Metabolic engineering of Clostridium tyrobutyricum for n-butanol production from sugarcane juice. 38
28238080 2017
30
Construction of efficient Streptococcus zooepidemicus strains for hyaluoronic acid production based on identification of key genes involved in sucrose metabolism. 38
27896786 2016
31
Clinical Effects of Synthetic Cannabinoid Receptor Agonists Compared with Marijuana in Emergency Department Patients with Acute Drug Overdose. 38
27255136 2016
32
β-amyloid increases neurocan expression through regulating Sox9 in astrocytes: A potential relationship between Sox9 and chondroitin sulfate proteoglycans in Alzheimer's disease. 38
27317830 2016
33
Clinical toxicity following analytically confirmed use of the synthetic cannabinoid receptor agonist MDMB-CHMICA. A report from the Identification Of Novel psychoActive substances (IONA) study. 38
27251903 2016
34
Epidemiology and clinical features of toxicity following recreational use of synthetic cannabinoid receptor agonists: a report from the United Kingdom National Poisons Information Service. 38
27091041 2016
35
The beneficial effects of cognitive training with simple calculation and reading aloud in an elderly postsurgical population: study protocol for a randomized controlled trial. 38
27484173 2016
36
Functional Dissociations Within Posterior Parietal Cortex During Scene Integration and Viewpoint Changes. 38
25246508 2016
37
Characteristics of novel psychoactive substance exposures reported to New York City Poison Center, 2011-2014. 38
26678258 2016
38
[Synthetic Cannabinoid Receptor Agonist-Associated Psychotic Disorder: A Case Report]. 38
27369687 2016
39
Cluster of Acute Toxicity from Ingestion of Synthetic Cannabinoid-Laced Brownies. 38
25967137 2015
40
Good performance of the SpectraCellRA system for typing of methicillin-resistant Staphylococcus aureus isolates. 38
23426926 2013
41
First European case of convulsions related to analytically confirmed use of the synthetic cannabinoid receptor agonist AM-2201. 38
22936123 2013
42
Comprehensive mutational analysis of sucrose-metabolizing pathways in Streptococcus mutans reveals novel roles for the sucrose phosphotransferase system permease. 38
23222725 2013
43
Construction of homologous and heterologous synthetic sucrose utilizing modules and their application for carotenoid production in recombinant Escherichia coli. 38
23313673 2013
44
Impact of strain typing methods on assessment of relationship between paired nares and wound isolates of methicillin-resistant Staphylococcus aureus. 38
23135945 2013
45
The in planta transcriptome of Ralstonia solanacearum: conserved physiological and virulence strategies during bacterial wilt of tomato. 38
22807564 2012
46
The SCAR/WAVE complex is necessary for proper regulation of traction stresses during amoeboid motility. 38
21900496 2011
47
Bis-(3'-5')-cyclic dimeric GMP-linked quorum sensing controls swarming in Vibrio parahaemolyticus. 38
22006340 2011
48
Applied roles and the future of community psychology. 38
20094769 2010
49
Introduction of Kenneth I. Maton on his reciept of the 2006 SCRA Award for Distinguished Contributions to Theory and Research. 38
18161022 2008
50
Vibrio parahaemolyticus ScrC modulates cyclic dimeric GMP regulation of gene expression relevant to growth on surfaces. 38
17993539 2008

Variations for Sveinsson Chorioretinal Atrophy

ClinVar genetic disease variations for Sveinsson Chorioretinal Atrophy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TEAD1 NM_021961.6(TEAD1): c.1261T> C (p.Tyr421His) single nucleotide variant Pathogenic rs11567847 11:12958749-12958749 11:12937202-12937202
2 TEAD1 NM_021961.6(TEAD1): c.675C> T (p.Leu225=) single nucleotide variant Likely benign rs148823826 11:12904648-12904648 11:12883101-12883101

UniProtKB/Swiss-Prot genetic disease variations for Sveinsson Chorioretinal Atrophy:

74
# Symbol AA change Variation ID SNP ID
1 TEAD1 p.Tyr421His VAR_031530 rs11567847

Expression for Sveinsson Chorioretinal Atrophy

Search GEO for disease gene expression data for Sveinsson Chorioretinal Atrophy.

Pathways for Sveinsson Chorioretinal Atrophy

Pathways related to Sveinsson Chorioretinal Atrophy according to KEGG:

37
# Name Kegg Source Accession
1 Hippo signaling pathway hsa04390

GO Terms for Sveinsson Chorioretinal Atrophy

Sources for Sveinsson Chorioretinal Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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