SCRA
MCID: SVN002
MIFTS: 29

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 58 60 76 38 30 6 41 74
Atrophia Areata 58 60 76
Scra 58 60 76
Helicoidal Peripapillary Chorioretinal Degeneration 58 76
Hpcd 58 76
Aa 58 76
Helicoidal Peripapillary Chorioretinal Degeneration; Hpcd 58
Peripapillary Chorioretinal Degeneration, Icelandic Type 58
Helicoid Peripapillary Chorioretinal Degeneration 60
Atrophia Areata; Aa 58

Characteristics:

Orphanet epidemiological data:

60
helicoid peripapillary chorioretinal degeneration
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
sveinsson chorioretinal atrophy:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 108985
KEGG 38 H01180
ICD10 via Orphanet 35 H31.2
UMLS via Orphanet 75 C1862382
Orphanet 60 ORPHA86813
MedGen 43 C1862382
SNOMED-CT via HPO 70 263681008 57190000 82649003
UMLS 74 C1862382

Summaries for Sveinsson Chorioretinal Atrophy

UniProtKB/Swiss-Prot : 76 Sveinsson chorioretinal atrophy: Characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid.

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 retina and eye, and related phenotypes are myopia and astigmatism

Description 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 592)
# Related Disease Score Top Affiliating Genes
1 amyloidosis aa 12.6
2 helsmoortel-van der aa syndrome 12.6
3 alopecia areata 12.0
4 adnp syndrome 11.9
5 williams-beuren region duplication syndrome 11.6
6 aplastic anemia 11.4
7 renal nutcracker syndrome 11.3
8 aarskog-scott syndrome 11.3
9 superior mesenteric artery syndrome 11.2
10 7q11.23 duplication syndrome 11.2
11 amyloidosis, hereditary, transthyretin-related 11.1
12 adnp-related intellectual disability and autism spectrum disorder 11.0
13 amyloidosis 10.8
14 arthritis 10.3
15 rheumatoid arthritis 10.3
16 pica disease 10.2
17 postherpetic neuralgia 10.2
18 familial mediterranean fever 10.1
19 nephrotic syndrome 10.1
20 al amyloidosis 10.1
21 alzheimer disease 10.1
22 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
23 breast cancer 10.0
24 alopecia 10.0
25 leukemia 10.0
26 brucellosis 10.0
27 prostate cancer 9.9
28 prostate cancer, hereditary, 8 9.9
29 prostate cancer, hereditary, 6 9.9
30 colorectal cancer 9.9
31 lung cancer 9.9
32 glomerulonephritis 9.9
33 lymphoma 9.9
34 sarcoma 9.9
35 dermatitis 9.9
36 kidney disease 9.9
37 neuropathy 9.9
38 spondyloarthropathy 1 9.8
39 arteries, anomalies of 9.8
40 systemic lupus erythematosus 9.8
41 pulmonary hypertension 9.8
42 crohn's disease 9.8
43 pyelonephritis 9.8
44 adenoma 9.8
45 spondylitis 9.8
46 lupus erythematosus 9.8
47 myositis 9.8
48 cystic fibrosis 9.8
49 asthma 9.8
50 dermatitis, atopic 9.8

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:

33
# Description HPO Frequency HPO Source Accession
1 myopia 33 HP:0000545
2 astigmatism 33 HP:0000483
3 peripapillary chorioretinal atrophy 33 HP:0007950

Symptoms via clinical synopsis from OMIM:

58
Misc:
slowly progressive

Eyes:
peripapillary chorioretinal atrophy
combined myopia and astigmatism

Clinical features from OMIM:

108985

Drugs & Therapeutics for Sveinsson Chorioretinal Atrophy

Search Clinical Trials , 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 30 TEAD1

Anatomical Context for Sveinsson Chorioretinal Atrophy

MalaCards organs/tissues related to Sveinsson Chorioretinal Atrophy:

42
Retina, Eye

Publications for Sveinsson Chorioretinal Atrophy

Articles related to Sveinsson Chorioretinal Atrophy:

# Title Authors Year
1
Sveinsson Chorioretinal Atrophy: Helicoid Peripapillary Chorioretinal Degeneration. ( 29049677 )
2017
2
Sveinsson chorioretinal atrophy: the mildest changes are located in the photoreceptor outer segment/retinal pigment epithelium junction. ( 17683515 )
2007
3
Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration: first histopathology report. ( 17339054 )
2007

Variations for Sveinsson Chorioretinal Atrophy

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

76
# Symbol AA change Variation ID SNP ID
1 TEAD1 p.Tyr421His VAR_031530 rs11567847

ClinVar genetic disease variations for Sveinsson Chorioretinal Atrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TEAD1 NM_021961.5(TEAD1): c.1261T> C (p.Tyr?His) single nucleotide variant Pathogenic rs11567847 GRCh37 Chromosome 11, 12958749: 12958749
2 TEAD1 NM_021961.5(TEAD1): c.1261T> C (p.Tyr?His) single nucleotide variant Pathogenic rs11567847 GRCh38 Chromosome 11, 12937202: 12937202
3 TEAD1 NM_021961.5(TEAD1): c.675C> T (p.Leu?=) single nucleotide variant Likely benign rs148823826 GRCh38 Chromosome 11, 12883101: 12883101
4 TEAD1 NM_021961.5(TEAD1): c.675C> T (p.Leu?=) single nucleotide variant Likely benign rs148823826 GRCh37 Chromosome 11, 12904648: 12904648

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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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