SCRA
MCID: SVN002
MIFTS: 45

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 57 12 58 73 36 29 6 44 15 71
Atrophia Areata 57 12 58 73
Scra 57 12 58 73
Hpcd 57 12 73
Peripapillary Chorioretinal Degeneration, Icelandic Type 57 12
Helicoidal Peripapillary Chorioretinal Degeneration 57 73
Helicoid Peripapillary Chorioretinal Degeneration 12 58
Aa 57 73
Helicoidal Peripapillary Chorioretinal Degeneration; Hpcd 57
Atrophy, Chorioretinal, Sveinsson 39
Atrophia Areata; Aa 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 108985
KEGG 36 H01180
MeSH 44 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 niemann-pick disease type c, juvenile neurologic onset and niemann-pick disease type c, adult neurologic onset. 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 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.

OMIM® : 57 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) (Updated 05-Mar-2021)

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 all 38)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease type c, juvenile neurologic onset 10.4 NPC2 NPC1
2 niemann-pick disease type c, adult neurologic onset 10.4 NPC2 NPC1
3 niemann-pick disease type c, severe early infantile neurologic onset 10.4 NPC2 NPC1
4 niemann-pick disease type c, late infantile neurologic onset 10.4 NPC2 NPC1
5 niemann-pick disease type c, severe perinatal form 10.4 NPC2 NPC1
6 epithelioid hemangioendothelioma 10.3 YAP1 WWTR1
7 malignant hemangioma 10.3 WWTR1 SERPINA3
8 aspiration pneumonia 10.3 SERPINA3 NPC2 NPC1
9 niemann-pick disease 10.3 SREBF2 NPC2 NPC1
10 abetalipoproteinemia 10.3
11 eye disease 10.3
12 sphingolipidosis 10.3 SERPINA3 NPC2 NPC1
13 malignant epithelioid hemangioendothelioma 10.3 YAP1 WWTR1 SERPINA3
14 neuroaspergillosis 10.3 YAP1 CYP51A1
15 lysosomal and lipase deficiency 10.3 NPC2 NPC1
16 c syndrome 10.3 SREBF2 NPC2 NPC1
17 gastric fundus cancer 10.3 YAP1 TEAD1
18 histiocytoid hemangioma 10.3 YAP1 WWTR1
19 niemann-pick disease, type c1 10.2 SREBF2 NPC2 NPC1
20 pick disease of brain 10.2 SERPINA3 NPC2 NPC1
21 gamma-amino butyric acid metabolism disorder 10.2 SERPINA3 AKR7A2
22 lipid storage disease 10.2 SREBF2 SERPINA3 NPC2 NPC1
23 myeloproliferative syndrome, transient 10.2 YAP1 WWTR1 TEAD1
24 myopia 10.2
25 niemann-pick disease, type c2 10.2 NPC2 NPC1
26 inherited metabolic disorder 10.2 SREBF2 SERPINA3 NPC2 NPC1
27 wilson-turner x-linked mental retardation syndrome 10.2 YAP1 WWTR1 TEAD4 TEAD1
28 gm1-gangliosidosis, type i 10.1 NPC2 NPC1
29 astigmatism 10.1
30 refractive error 10.1
31 niemann-pick disease, type b 10.0 NPC2 NPC1
32 pica disease 10.0
33 allergic disease 9.9
34 diarrhea 9.9
35 thrombophlebitis 9.9
36 sleep disorder 9.9
37 47,xyy 9.9
38 postherpetic neuralgia 9.9

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®:

57 (Updated 05-Mar-2021)
Eyes:
peripapillary chorioretinal atrophy
combined myopia and astigmatism

Misc:
slowly progressive

Clinical features from OMIM®:

108985 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Sveinsson Chorioretinal Atrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.53 CYP51A1 HPR INCENP SERPINA3 SREBF2 YAP1
2 Decreased viability GR00381-A-1 9.53 CDON IZUMO2
3 Decreased viability GR00386-A-1 9.53 CYP51A1 INCENP
4 Decreased viability GR00402-S-2 9.53 AKR7A2 C11orf40 CDON INCENP IZUMO2 SCRT1

MGI Mouse Phenotypes related to Sveinsson Chorioretinal Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.47 AKR7A2 CDON CYP51A1 INCENP MOSPD3 NPC1

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
Eye, Retina, Tongue, Cortex

Publications for Sveinsson Chorioretinal Atrophy

Articles related to Sveinsson Chorioretinal Atrophy:

(show top 50) (show all 117)
# Title Authors PMID Year
1
A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration). 6 57 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. 6 61
17689488 2007
3
Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration: first histopathology report. 57 61
17339054 2007
4
Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15. 57
7795606 1995
5
Atrophia areata. A variant of peripapillary chorioretinal degeneration. 57
7315221 1981
6
Helicoidal peripapillary chorioretinal degeneration. 57
419979 1979
7
A curious affection of the fundus oculi: helicoid peripapillar chorioretinal degeneration. Its relation to pigmentary paravenous chorioretinal degeneration. 57
13959112 1962
8
Emergence of Cumyl-PEGACLONE-related fatalities in the Northern Territory of Australia. 61
33185835 2021
9
Modulation of Human T-type Calcium Channels by Synthetic Cannabinoid Receptor Agonists in vitro. 61
33600843 2021
10
Biased agonism at the cannabinoid receptors - Evidence from synthetic cannabinoid receptor agonists. 61
33259937 2021
11
A transnational perspective on the evolution of the synthetic cannabinoid receptor agonists market: Comparing prison and general populations. 61
33463894 2021
12
Ralstonia solanacearum depends on catabolism of myo-inositol, sucrose, and trehalose for virulence in an infection stage-dependent manner. 61
33487004 2021
13
Cumyl-CBMICA: A new synthetic cannabinoid receptor agonist containing a cyclobutyl methyl side chain. 61
33037749 2021
14
Synthesis and in Vitro Cannabinoid Receptor 1 Activity of Recently Detected Synthetic Cannabinoids 4F-MDMB-BICA, 5F-MPP-PICA, MMB-4en-PICA, CUMYL-CBMICA, ADB-BINACA, APP-BINACA, 4F-MDMB-BINACA, MDMB-4en-PINACA, A-CHMINACA, 5F-AB-P7AICA, 5F-MDMB-P7AICA, and 5F-AP7AICA. 61
33253529 2020
15
Characterizing Trends in Synthetic Cannabinoid Receptor Agonist Use from Patient Clinical Evaluations during Medical Toxicology Consultation. 61
33225872 2020
16
New psychoactive substance use as a survival strategy in rural marginalised communities in Hungary. 61
31911024 2020
17
Synthetic cannabis: adverse events reported to the New Zealand Pharmacovigilance Centre. 61
33156704 2020
18
Shape matters: The application of activity-based in vitro bioassays and chiral profiling to the pharmacological evaluation of synthetic cannabinoid receptor agonists in drug-infused papers seized in prisons. 61
33161649 2020
19
Diverse Horizontally-Acquired Gene Clusters Confer Sucrose Utilization to Different Lineages of the Marine Pathogen Photobacterium damselae subsp. damselae. 61
33105683 2020
20
Large-scale evaluation of ion mobility spectrometry for the rapid detection of synthetic cannabinoid receptor agonists in infused papers in prisons. 61
33058556 2020
21
Recent Use of Synthetic Cannabinoids, Synthetic Opioids, and Other Psychoactive Drug Groups among High-risk Drug Users. 61
32345134 2020
22
A South African perspective on community psychology practice competencies. 61
32667065 2020
23
Natural brominated phenoxyphenols kill persistent and biofilm-incorporated cells of MRSA and other pathogenic bacteria. 61
32418125 2020
24
In vitro and in vivo pharmacological evaluation of the synthetic cannabinoid receptor agonist EG-018. 61
32247816 2020
25
Signalling profiles of a structurally diverse panel of synthetic cannabinoid receptor agonists. 61
32088263 2020
26
The impact of legislation on acute synthetic cannabinoid harms resulting in ambulance attendance. 61
32279004 2020
27
Differential activation of G protein-mediated signaling by synthetic cannabinoid receptor agonists. 61
32101383 2020
28
Synthetic cannabinoid receptor agonists-induced recurrent seizure in elderly patient. 61
31839517 2020
29
Semiquantitative Activity-Based Detection of JWH-018, a Synthetic Cannabinoid Receptor Agonist, in Oral Fluid after Vaping. 61
32200637 2020
30
Detection and quantitation of synthetic cannabinoid receptor agonists in infused papers from prisons in a constantly evolving illicit market. 61
31944624 2020
31
Direct conversion of untreated cane molasses into butyric acid by engineered Clostridium tyrobutyricum. 61
31958691 2020
32
Assessment of Biased Agonism among Distinct Synthetic Cannabinoid Receptor Agonist Scaffolds. 61
32296768 2020
33
There is a Road, No Simple Highway: Musings on Rural Community Practice. 61
31573079 2020
34
Adding more "spice" to the pot: A review of the chemistry and pharmacology of newly emerging heterocyclic synthetic cannabinoid receptor agonists. 61
31854124 2020
35
Quantification of Herbal Mixtures Containing Cumyl-PEGACLONE-Is Inhomogeneity Still an Issue? 61
31044247 2020
36
In vitro determination of the efficacy of illicit synthetic cannabinoids at CB1 receptors. 61
31412133 2019
37
Insights into biased signaling at cannabinoid receptors: synthetic cannabinoid receptor agonists. 61
31472128 2019
38
Synthetic Cannabinoid Receptor Agonists Detection Using Fluorescence Spectral Fingerprinting. 61
31580647 2019
39
Do Toxic Synthetic Cannabinoid Receptor Agonists Have Signature in Vitro Activity Profiles? A Case Study of AMB-FUBINACA. 61
31513380 2019
40
Suspected synthetic cannabinoid receptor agonist intoxication: Does analysis of samples reflect the presence of suspected agents? 61
30595429 2019
41
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
42
Streptococcus mutans transcriptome in the presence of sodium fluoride and sucrose. 61
31071638 2019
43
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
44
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
45
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
46
CUMYL-4CN-BINACA Is an Efficacious and Potent Pro-Convulsant Synthetic Cannabinoid Receptor Agonist. 61
31191320 2019
47
Spicing it up - synthetic cannabinoid receptor agonists and psychosis - a systematic review. 61
30454908 2018
48
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
49
Human Toxicity Caused by Indole and Indazole Carboxylate Synthetic Cannabinoid Receptor Agonists: From Horizon Scanning to Notification. 61
29038156 2018
50
The Chemistry and Pharmacology of Synthetic Cannabinoid Receptor Agonist New Psychoactive Substances: Evolution. 61
30105473 2018

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 SEMA4A NM_022367.4(SEMA4A):c.985C>T (p.Gln329Ter) SNV Pathogenic 813239 1:156132736-156132736 1:156162945-156162945
3 TEAD1 NM_021961.6(TEAD1):c.1261T>A (p.Tyr421Asn) SNV Uncertain significance 984436 11:12958749-12958749 11:12937202-12937202
4 TEAD1 NM_021961.6(TEAD1):c.675C>T (p.Leu225=) SNV Likely benign 522308 rs148823826 11:12904648-12904648 11:12883101-12883101
5 TEAD1 NM_021961.6(TEAD1):c.331-907AT[4] Microsatellite Benign 802657 rs10543484 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 transcription factor complex GO:0005667 9.02 YAP1 WWTR1 TEAD4 TEAD2 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 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 YAP1 WWTR1 TEAD4 TEAD2 TEAD1 SREBF2
2 protein-containing complex assembly GO:0065003 9.75 YAP1 TEAD2 TEAD1
3 cholesterol homeostasis GO:0042632 9.72 SREBF2 NPC2 NPC1
4 cholesterol efflux GO:0033344 9.6 NPC2 NPC1
5 low-density lipoprotein particle clearance GO:0034383 9.59 NPC2 NPC1
6 cholesterol transport GO:0030301 9.58 NPC2 NPC1
7 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.57 SREBF2 NPC1
8 tissue homeostasis GO:0001894 9.56 YAP1 WWTR1
9 steroid metabolic process GO:0008202 9.56 SREBF2 NPC2 NPC1 CYP51A1
10 intracellular cholesterol transport GO:0032367 9.54 NPC2 NPC1
11 notochord development GO:0030903 9.52 YAP1 TEAD2
12 embryonic heart tube morphogenesis GO:0003143 9.51 YAP1 TEAD2
13 embryonic organ development GO:0048568 9.5 TEAD4 TEAD2 TEAD1
14 paraxial mesoderm development GO:0048339 9.49 YAP1 TEAD2
15 positive regulation of stem cell population maintenance GO:1902459 9.46 YAP1 TEAD4
16 cholesterol metabolic process GO:0008203 9.46 SREBF2 NPC2 NPC1 CYP51A1
17 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.43 YAP1 WWTR1
18 heart process GO:0003015 9.4 YAP1 WWTR1
19 lateral mesoderm development GO:0048368 9.37 YAP1 TEAD2
20 transcription initiation from RNA polymerase II promoter GO:0006367 9.35 YAP1 WWTR1 TEAD4 TEAD2 TEAD1
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 DNA-binding transcription factor activity GO:0003700 9.02 TEAD4 TEAD2 TEAD1 SREBF2 SCRT1

Sources for Sveinsson Chorioretinal Atrophy

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
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