SCRA
MCID: SVN002
MIFTS: 46

Sveinsson Chorioretinal Atrophy (SCRA)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sveinsson Chorioretinal Atrophy

MalaCards integrated aliases for Sveinsson Chorioretinal Atrophy:

Name: Sveinsson Chorioretinal Atrophy 56 12 58 73 36 29 6 43 15 39 71
Atrophia Areata 56 12 58 73
Scra 56 12 58 73
Hpcd 56 12 73
Peripapillary Chorioretinal Degeneration, Icelandic Type 56 12
Helicoidal Peripapillary Chorioretinal Degeneration 56 73
Helicoid Peripapillary Chorioretinal Degeneration 12 58
Aa 56 73
Helicoidal Peripapillary Chorioretinal Degeneration; Hpcd 56
Atrophia Areata; Aa 56

Characteristics:

Orphanet epidemiological data:

58
helicoid peripapillary chorioretinal degeneration
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
sveinsson chorioretinal atrophy:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111228
OMIM 56 108985
KEGG 36 H01180
MeSH 43 C566236
SNOMED-CT 67 724384008
ICD10 via Orphanet 33 H31.2
UMLS via Orphanet 72 C1862382
Orphanet 58 ORPHA86813
MedGen 41 C1862382
SNOMED-CT via HPO 68 263681008 57190000 82649003
UMLS 71 C1862382

Summaries for Sveinsson Chorioretinal Atrophy

KEGG : 36 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 helsmoortel-van der aa syndrome and amyloidosis aa. An important gene associated with Sveinsson Chorioretinal Atrophy is TEAD1 (TEA Domain Transcription Factor 1), and among its related pathways/superpathways are Hippo signaling pathway and Metabolism. Affiliated tissues include retina, eye 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.

OMIM : 56 Sveinsson chorioretinal atrophy (SCRA) is characterized 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 at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals (summary by Jonasson et al., 2007). (108985)

UniProtKB/Swiss-Prot : 73 Sveinsson chorioretinal atrophy: Characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid.

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 586)
# Related Disease Score Top Affiliating Genes
1 helsmoortel-van der aa syndrome 12.8
2 amyloidosis aa 12.8
3 aplastic anemia 12.2
4 alopecia areata 12.2
5 aarskog-scott syndrome 12.0
6 williams-beuren region duplication syndrome 11.8
7 adnp-related intellectual disability and autism spectrum disorder 11.5
8 amyloidosis, hereditary, transthyretin-related 11.5
9 renal nutcracker syndrome 11.4
10 7q11.23 duplication syndrome 11.3
11 superior mesenteric artery syndrome 11.3
12 hydroxykynureninuria 11.2
13 amyloidosis 11.1
14 nephrotic syndrome 10.6
15 brucellosis 10.5
16 familial mediterranean fever 10.5
17 niemann-pick disease type c, juvenile neurologic onset 10.4 NPC2 NPC1
18 al amyloidosis 10.4
19 niemann-pick disease type c, adult neurologic onset 10.4 NPC2 NPC1
20 end stage renal disease 10.4
21 niemann-pick disease type c, severe early infantile neurologic onset 10.4 NPC2 NPC1
22 niemann-pick disease type c, late infantile neurologic onset 10.4 NPC2 NPC1
23 alcohol dependence 10.4
24 epithelioid hemangioendothelioma 10.4 YAP1 WWTR1
25 niemann-pick disease type c, severe perinatal form 10.4 NPC2 NPC1
26 abetalipoproteinemia 10.4
27 eye disease 10.4
28 joint laxity, short stature, and myopia 10.4
29 myopia 10.4
30 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.3
31 malignant hemangioma 10.3 WWTR1 SERPINA3
32 skull base cancer 10.3 SERPINA3 SCRT1
33 malignant epithelioid hemangioendothelioma 10.3 YAP1 WWTR1 SERPINA3
34 spondyloarthropathy 1 10.3
35 inflammatory spondylopathy 10.3
36 spondylitis 10.3
37 pica disease 10.3
38 histiocytoid hemangioma 10.3 YAP1 WWTR1
39 rheumatoid arthritis 10.3
40 diarrhea 10.3
41 alopecia 10.3
42 skull base meningioma 10.2 SERPINA3 SCRT1
43 alzheimer disease 10.2
44 glomerulonephritis 10.2
45 sphingolipidosis 10.2 SERPINA3 NPC2 NPC1
46 kidney disease 10.2
47 myeloproliferative syndrome, transient 10.2 YAP1 WWTR1 TEAD1
48 thrombophlebitis 10.2
49 postherpetic neuralgia 10.2
50 astigmatism 10.2

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:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 astigmatism 31 HP:0000483
3 peripapillary chorioretinal atrophy 31 HP:0007950

Symptoms via clinical synopsis from OMIM:

56
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

Cochrane evidence based reviews: 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:

40
Retina, Eye, Tongue, Cortex

Publications for Sveinsson Chorioretinal Atrophy

Articles related to Sveinsson Chorioretinal Atrophy:

(show top 50) (show all 104)
# Title Authors PMID Year
1
A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration). 6 56 61
15016762 2004
2
A Sveinsson's chorioretinal atrophy-associated missense mutation in mouse Tead1 affects its interaction with the co-factors YAP and TAZ. 61 6
17689488 2007
3
Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration: first histopathology report. 61 56
17339054 2007
4
Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15. 56
7795606 1995
5
Atrophia areata. A variant of peripapillary chorioretinal degeneration. 56
7315221 1981
6
Helicoidal peripapillary chorioretinal degeneration. 56
419979 1979
7
A curious affection of the fundus oculi: helicoid peripapillar chorioretinal degeneration. Its relation to pigmentary paravenous chorioretinal degeneration. 56
13959112 1962
8
Natural brominated phenoxyphenols kill persistent and biofilm-incorporated cells of MRSA and other pathogenic bacteria. 61
32418125 2020
9
In vitro and in vivo pharmacological evaluation of the synthetic cannabinoid receptor agonist EG-018. 61
32247816 2020
10
Signalling profiles of a structurally diverse panel of synthetic cannabinoid receptor agonists. 61
32088263 2020
11
Direct conversion of untreated cane molasses into butyric acid by engineered Clostridium tyrobutyricum. 61
31958691 2020
12
Differential activation of G protein-mediated signaling by synthetic cannabinoid receptor agonists. 61
32101383 2020
13
The impact of legislation on acute synthetic cannabinoid harms resulting in ambulance attendance. 61
32279004 2020
14
Synthetic cannabinoid receptor agonists-induced recurrent seizure in elderly patient. 61
31839517 2020
15
Detection and quantitation of synthetic cannabinoid receptor agonists in infused papers from prisons in a constantly evolving illicit market. 61
31944624 2020
16
Recent Use of Synthetic Cannabinoids, Synthetic Opioids, and Other Psychoactive Drug Groups among High-risk Drug Users. 61
32345134 2020
17
Assessment of Biased Agonism among Distinct Synthetic Cannabinoid Receptor Agonist Scaffolds. 61
32296768 2020
18
Semiquantitative Activity-Based Detection of JWH-018, a Synthetic Cannabinoid Receptor Agonist, in Oral Fluid after Vaping. 61
32200637 2020
19
There is a Road, No Simple Highway: Musings on Rural Community Practice. 61
31573079 2020
20
Adding more "spice" to the pot: A review of the chemistry and pharmacology of newly emerging heterocyclic synthetic cannabinoid receptor agonists. 61
31854124 2020
21
New psychoactive substance use as a survival strategy in rural marginalised communities in Hungary. 61
31911024 2020
22
Quantification of Herbal Mixtures Containing Cumyl-PEGACLONE-Is Inhomogeneity Still an Issue? 61
31044247 2020
23
In vitro determination of the efficacy of illicit synthetic cannabinoids at CB1 receptors. 61
31412133 2019
24
Insights into biased signaling at cannabinoid receptors: synthetic cannabinoid receptor agonists. 61
31472128 2019
25
Synthetic Cannabinoid Receptor Agonists Detection Using Fluorescence Spectral Fingerprinting. 61
31580647 2019
26
Do Toxic Synthetic Cannabinoid Receptor Agonists Have Signature in Vitro Activity Profiles? A Case Study of AMB-FUBINACA. 61
31513380 2019
27
Suspected synthetic cannabinoid receptor agonist intoxication: Does analysis of samples reflect the presence of suspected agents? 61
30595429 2019
28
The chemistry and pharmacology of putative synthetic cannabinoid receptor agonist (SCRA) new psychoactive substances (NPS) 5F-PY-PICA, 5F-PY-PINACA, and their analogs. 61
30838752 2019
29
Streptococcus mutans transcriptome in the presence of sodium fluoride and sucrose. 61
31071638 2019
30
CUMYL-4CN-BINACA Is an Efficacious and Potent Pro-Convulsant Synthetic Cannabinoid Receptor Agonist. 61
31191320 2019
31
Enantiospecific Synthesis, Chiral Separation, and Biological Activity of Four Indazole-3-Carboxamide-Type Synthetic Cannabinoid Receptor Agonists and Their Detection in Seized Drug Samples. 61
31157203 2019
32
Synthetic cannabinoid use among a sample of individuals enrolled in community-based recovery programs: Are synthetic cannabinoids actually preferred to other drugs? 61
30457960 2019
33
Report on the SCRA Nuts and Bolts Workshop II: case studies of citrus greening, Ultra-low Gossypol Cotton, and blight tolerant, low-acrylamide potato. 61
31311388 2019
34
Spicing it up - synthetic cannabinoid receptor agonists and psychosis - a systematic review. 61
30454908 2018
35
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. 61
29806885 2018
36
Human Toxicity Caused by Indole and Indazole Carboxylate Synthetic Cannabinoid Receptor Agonists: From Horizon Scanning to Notification. 61
29038156 2018
37
The Beneficial Effects of Cognitive Training With Simple Calculation and Reading Aloud (SCRA) in the Elderly Postoperative Population: A Pilot Randomized Controlled Trial. 61
29643802 2018
38
A cloud on the horizon-a survey into the use of electronic vaping devices for recreational drug and new psychoactive substance (NPS) administration. 61
29025078 2018
39
The Chemistry and Pharmacology of Synthetic Cannabinoid Receptor Agonist New Psychoactive Substances: Evolution. 61
30105473 2018
40
The Chemistry and Pharmacology of Synthetic Cannabinoid Receptor Agonists as New Psychoactive Substances: Origins. 61
29980914 2018
41
Sveinsson Chorioretinal Atrophy: Helicoid Peripapillary Chorioretinal Degeneration. 61
29049677 2017
42
Genetic polymorphism of scrA gene of Streptococcus mutans isolates is not associated with biofilm formation in severe early childhood caries. 61
28705197 2017
43
Increases in synthetic cannabinoids-related harms: Results from a longitudinal web-based content analysis. 61
28578250 2017
44
n-Butanol production from sucrose and sugarcane juice by engineered Clostridium tyrobutyricum overexpressing sucrose catabolism genes and adhE2. 61
28258996 2017
45
Metabolic engineering of Clostridium tyrobutyricum for n-butanol production from sugarcane juice. 61
28238080 2017
46
The impact of Australian legislative changes on synthetic cannabinoid exposures reported to the New South Wales Poisons Information Centre. 61
28343112 2017
47
Clinical Effects of Synthetic Cannabinoid Receptor Agonists Compared with Marijuana in Emergency Department Patients with Acute Drug Overdose. 61
27255136 2016
48
Construction of efficient Streptococcus zooepidemicus strains for hyaluoronic acid production based on identification of key genes involved in sucrose metabolism. 61
27896786 2016
49
β-amyloid increases neurocan expression through regulating Sox9 in astrocytes: A potential relationship between Sox9 and chondroitin sulfate proteoglycans in Alzheimer's disease. 61
27317830 2016
50
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. 61
27251903 2016

Variations for Sveinsson Chorioretinal Atrophy

ClinVar genetic disease variations for Sveinsson Chorioretinal Atrophy:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TEAD1 NM_021961.6(TEAD1):c.1261T>C (p.Tyr421His)SNV Pathogenic 12630 rs11567847 11:12958749-12958749 11:12937202-12937202
2 TEAD1 NM_021961.6(TEAD1):c.675C>T (p.Leu225=)SNV Benign/Likely benign 522308 rs148823826 11:12904648-12904648 11:12883101-12883101
3 TEAD1 NM_021961.6(TEAD1):c.331-907AT[4]short repeat Benign 802657 11:12900348-12900349 11:12878801-12878802

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

73
# 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:

36
# Name Kegg Source Accession
1 Hippo signaling pathway hsa04390

GO Terms for Sveinsson Chorioretinal Atrophy

Cellular components related to Sveinsson Chorioretinal Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 TEAD-2-YAP complex GO:0071149 9.16 YAP1 TEAD2
2 transcription factor complex GO:0005667 9.02 YAP1 WWTR1 TEAD4 TEAD2 TEAD1
3 TEAD-1-YAP complex GO:0071148 8.96 YAP1 TEAD1

Biological processes related to Sveinsson Chorioretinal Atrophy according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.93 SREBF2 NPC2 NPC1 CYP51A1 CYP4V2
2 protein-containing complex assembly GO:0065003 9.73 YAP1 TEAD2 TEAD1
3 cholesterol homeostasis GO:0042632 9.7 SREBF2 NPC2 NPC1
4 sterol metabolic process GO:0016125 9.6 CYP51A1 CYP4V2
5 low-density lipoprotein particle clearance GO:0034383 9.59 NPC2 NPC1
6 cholesterol transport GO:0030301 9.58 NPC2 NPC1
7 cholesterol efflux GO:0033344 9.58 NPC2 NPC1
8 tissue homeostasis GO:0001894 9.57 YAP1 WWTR1
9 steroid metabolic process GO:0008202 9.56 SREBF2 NPC2 NPC1 CYP51A1
10 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.55 SREBF2 NPC1
11 embryonic organ development GO:0048568 9.54 TEAD4 TEAD2 TEAD1
12 intracellular cholesterol transport GO:0032367 9.51 NPC2 NPC1
13 notochord development GO:0030903 9.49 YAP1 TEAD2
14 paraxial mesoderm development GO:0048339 9.48 YAP1 TEAD2
15 embryonic heart tube morphogenesis GO:0003143 9.46 YAP1 TEAD2
16 cholesterol metabolic process GO:0008203 9.46 SREBF2 NPC2 NPC1 CYP51A1
17 heart process GO:0003015 9.43 YAP1 WWTR1
18 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.4 YAP1 WWTR1
19 transcription initiation from RNA polymerase II promoter GO:0006367 9.35 YAP1 WWTR1 TEAD4 TEAD2 TEAD1
20 lateral mesoderm development GO:0048368 9.32 YAP1 TEAD2
21 hippo signaling GO:0035329 9.02 YAP1 WWTR1 TEAD4 TEAD2 TEAD1

Molecular functions related to Sveinsson Chorioretinal Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.55 YAP1 TEAD4 TEAD2 TEAD1 SREBF2
2 RNA polymerase II transcription factor binding GO:0001085 9.13 TEAD4 TEAD2 TEAD1
3 transcription regulatory region DNA binding GO:0044212 9.02 YAP1 TEAD4 TEAD2 TEAD1 SREBF2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....