MCID: SVN002
MIFTS: 29

Sveinsson Chorioretinal Atrophy

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Sveinsson Chorioretinal Atrophy

MalaCards integrated aliases for Sveinsson Chorioretinal Atrophy:

Name: Sveinsson Chorioretinal Atrophy 53 55 71 36 28 69
Atrophia Areata 53 55 71
Scra 53 55 71
Helicoidal Peripapillary Chorioretinal Degeneration 53 71
Hpcd 53 71
Aa 53 71
Helicoidal Peripapillary Chorioretinal Degeneration; Hpcd 53
Peripapillary Chorioretinal Degeneration, Icelandic Type 53
Helicoid Peripapillary Chorioretinal Degeneration 55
Atrophia Areata; Aa 53

Characteristics:

Orphanet epidemiological data:

55
helicoid peripapillary chorioretinal degeneration
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 108985
Orphanet 55 ORPHA86813
UMLS via Orphanet 70 C1862382
ICD10 via Orphanet 33 H31.2
MedGen 39 C1862382
KEGG 36 H01180
SNOMED-CT via HPO 65 263681008 82649003 57190000
UMLS 69 C1862382

Summaries for Sveinsson Chorioretinal Atrophy

UniProtKB/Swiss-Prot : 71 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, and has symptoms including astigmatism, myopia and peripapillary chorioretinal atrophy. An important gene associated with Sveinsson Chorioretinal Atrophy is TEAD1 (TEA Domain Transcription Factor 1). Affiliated tissues include retina and eye.

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 304)
# 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 9.9
19 al amyloidosis 9.9
20 aging 9.8
21 leukemia 9.8
22 familial mediterranean fever 9.8
23 brucellosis 9.8
24 alzheimer disease 9.7
25 sarcoma 9.7
26 prostatitis 9.7
27 cerebritis 9.7
28 neuropathy 9.7
29 body mass index quantitative trait locus 11 9.7
30 body mass index quantitative trait locus 9 9.7
31 body mass index quantitative trait locus 8 9.7
32 body mass index quantitative trait locus 7 9.7
33 body mass index quantitative trait locus 12 9.7
34 body mass index quantitative trait locus 14 9.7
35 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
36 body mass index quantitative trait locus 18 9.7
37 pulmonary hypertension 9.7
38 alopecia 9.7
39 crohn's disease 9.7
40 lymphoma 9.7
41 nephrotic syndrome 9.7
42 dermatitis 9.7
43 myositis 9.6
44 prostate cancer 9.6
45 dermatitis, atopic 9.6
46 body mass index quantitative trait locus 4 9.6
47 body mass index quantitative trait locus 10 9.6
48 episodic pain syndrome, familial, 1 9.6
49 arteriovenous malformation 9.6
50 kidney disease 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:

53
Eyes:
peripapillary chorioretinal atrophy
combined myopia and astigmatism

Misc:
slowly progressive


Clinical features from OMIM:

108985

Human phenotypes related to Sveinsson Chorioretinal Atrophy:

31
# Description HPO Frequency HPO Source Accession
1 astigmatism 31 HP:0000483
2 myopia 31 HP:0000545
3 peripapillary chorioretinal atrophy 31 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 28 TEAD1

Anatomical Context for Sveinsson Chorioretinal Atrophy

MalaCards organs/tissues related to Sveinsson Chorioretinal Atrophy:

38
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/helicoid peripapillary chorioretinal degeneration: first histopathology report. ( 17339054 )
2007
3
Sveinsson chorioretinal atrophy: the mildest changes are located in the photoreceptor outer segment/retinal pigment epithelium junction. ( 17683515 )
2007

Variations for Sveinsson Chorioretinal Atrophy

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

71
# 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

GO Terms for Sveinsson Chorioretinal Atrophy

Sources for Sveinsson Chorioretinal Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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