SCRA
MCID: SVN002
MIFTS: 29

Sveinsson Chorioretinal Atrophy (SCRA)

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Sveinsson Chorioretinal Atrophy

MalaCards integrated aliases for Sveinsson Chorioretinal Atrophy:

Name: Sveinsson Chorioretinal Atrophy 57 59 75 37 29 6 40 73
Atrophia Areata 57 59 75
Scra 57 59 75
Helicoidal Peripapillary Chorioretinal Degeneration 57 75
Hpcd 57 75
Aa 57 75
Helicoidal Peripapillary Chorioretinal Degeneration; Hpcd 57
Peripapillary Chorioretinal Degeneration, Icelandic Type 57
Helicoid Peripapillary Chorioretinal Degeneration 59
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:

OMIM 57 108985
Orphanet 59 ORPHA86813
ICD10 via Orphanet 34 H31.2
UMLS via Orphanet 74 C1862382
MedGen 42 C1862382
KEGG 37 H01180
SNOMED-CT via HPO 69 263681008 82649003 57190000
UMLS 73 C1862382

Summaries for Sveinsson Chorioretinal Atrophy

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include retina and eye, and related phenotypes are astigmatism and myopia

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 440)
# Related Disease Score Top Affiliating Genes
1 amyloidosis aa 12.4
2 helsmoortel-van der aa syndrome 12.3
3 alopecia areata 11.8
4 adnp syndrome 11.7
5 williams-beuren region duplication syndrome 11.5
6 aplastic anemia 11.2
7 renal nutcracker syndrome 11.1
8 aarskog-scott syndrome 11.1
9 superior mesenteric artery syndrome 11.0
10 7q11.23 duplication syndrome 11.0
11 amyloidosis, hereditary, transthyretin-related 10.9
12 adnp-related intellectual disability and autism spectrum disorder 10.9
13 amyloidosis 10.4
14 chorioretinitis 10.4
15 retinitis 10.1
16 arthritis 10.0
17 postherpetic neuralgia 10.0
18 rheumatoid arthritis 10.0
19 al amyloidosis 9.9
20 alzheimer disease 9.9
21 breast cancer 9.8
22 aging 9.8
23 familial mediterranean fever 9.8
24 leukemia 9.8
25 brucellosis 9.8
26 prostatitis 9.8
27 prostate cancer 9.7
28 lung cancer 9.7
29 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
30 sarcoma 9.7
31 nephrotic syndrome 9.7
32 dermatitis 9.7
33 cerebritis 9.7
34 neuropathy 9.7
35 pulmonary hypertension 9.7
36 alopecia 9.7
37 crohn's disease 9.7
38 lymphoma 9.7
39 colorectal cancer 9.6
40 myositis 9.6
41 asthma 9.6
42 dermatitis, atopic 9.6
43 arteriovenous malformation 9.6
44 pyelonephritis 9.6
45 esophagitis 9.6
46 cervicitis 9.6
47 kidney disease 9.6
48 thyroiditis 9.6
49 arteries, anomalies of 9.6
50 small cell cancer of the lung 9.6

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



Diseases related to Sveinsson Chorioretinal Atrophy

Symptoms & Phenotypes for Sveinsson Chorioretinal Atrophy

Symptoms via clinical synopsis from OMIM:

57
Eyes:
peripapillary chorioretinal atrophy
combined myopia and astigmatism

Misc:
slowly progressive


Clinical features from OMIM:

108985

Human phenotypes related to Sveinsson Chorioretinal Atrophy:

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

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 29 TEAD1

Anatomical Context for Sveinsson Chorioretinal Atrophy

MalaCards organs/tissues related to Sveinsson Chorioretinal Atrophy:

41
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:

75
# 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.675C> T (p.Leu?=) single nucleotide variant Likely benign rs148823826 GRCh38 Chromosome 11, 12883101: 12883101
2 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

GO Terms for Sveinsson Chorioretinal Atrophy

Sources for Sveinsson Chorioretinal Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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