MCID: SVN002
MIFTS: 28

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 54 24 56 71 29 69
Atrophia Areata 24 56 71
Scra 24 56 71
Hpcd 24 71
Aa 24 71
Peripapillary Chorioretinal Degeneration, Icelandic Type 24
Helicoidal Peripapillary Chorioretinal Degeneration 71
Helicoid Peripapillary Chorioretinal Degeneration 56
Helicoidal Perpillary Chorioretinal Degeneration 24

Characteristics:

Orphanet epidemiological data:

56
helicoid peripapillary chorioretinal degeneration
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
sveinsson chorioretinal atrophy:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 108985
Orphanet 56 ORPHA86813
UMLS via Orphanet 70 C1862382
ICD10 via Orphanet 34 H31.2
MedGen 40 C1862382
SNOMED-CT via HPO 65 263681008 82649003 57190000

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 myopia, astigmatism 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 329)
id Related Disease Score Top Affiliating Genes
1 amyloidosis aa 12.2
2 helsmoortel-van der aa syndrome 12.2
3 alopecia areata 11.7
4 adnp syndrome 11.4
5 aplastic anemia 11.1
6 renal nutcracker syndrome 11.0
7 superior mesenteric artery syndrome 10.9
8 aarskog-scott syndrome 10.9
9 7q11.23 duplication syndrome 10.9
10 amyloidosis, hereditary, transthyretin-related 10.7
11 squamous cell carcinoma, head and neck 10.7
12 adnp-related intellectual disability and autism spectrum disorder 10.7
13 williams-beuren region duplication syndrome 10.7
14 amyloidosis 10.4
15 chorioretinitis 10.2
16 retinitis 10.0
17 arthritis 9.9
18 postherpetic neuralgia 9.9
19 al amyloidosis 9.8
20 rheumatoid arthritis 9.8
21 leukemia 9.7
22 sarcoma 9.7
23 prostatitis 9.7
24 prostate cancer 9.6
25 pulmonary hypertension 9.6
26 cerebritis 9.6
27 alopecia 9.6
28 obesity 9.6
29 nephrotic syndrome 9.6
30 lymphoma 9.6
31 crohn's disease 9.6
32 dermatitis 9.6
33 myositis 9.6
34 thyroiditis 9.6
35 neuropathy 9.6
36 arteriovenous malformation 9.6
37 atopic dermatitis 9.6
38 adenoma 9.5
39 rheumatic disease 9.5
40 asthma 9.5
41 breast cancer 9.5
42 artery disease 9.5
43 chronic thromboembolic pulmonary hypertension 9.5
44 lattice corneal dystrophy 9.5
45 colorectal cancer 9.5
46 corneal dystrophy 9.5
47 facial arteriovenous malformation 9.5
48 cervicitis 9.5
49 kidney disease 9.5
50 polycystic kidney disease 9.5

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:

54

Eyes:
combined myopia and astigmatism
peripapillary chorioretinal atrophy

Misc:
slowly progressive


Clinical features from OMIM:

108985

Human phenotypes related to Sveinsson Chorioretinal Atrophy:

32
id Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 astigmatism 32 HP:0000483
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:

id Genetic test Affiliating Genes
1 Sveinsson Chorioretinal Atrophy 29 24 TEAD1

Anatomical Context for Sveinsson Chorioretinal Atrophy

MalaCards organs/tissues related to Sveinsson Chorioretinal Atrophy:

39
Retina, Eye

Publications for Sveinsson Chorioretinal Atrophy

Articles related to Sveinsson Chorioretinal Atrophy:

id Title Authors Year
1
Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration: first histopathology report. ( 17339054 )
2007
2
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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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