CACD1
MCID: CHR637
MIFTS: 41

Choroidal Dystrophy, Central Areolar, 1 (CACD1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Choroidal Dystrophy, Central Areolar, 1

MalaCards integrated aliases for Choroidal Dystrophy, Central Areolar, 1:

Name: Choroidal Dystrophy, Central Areolar, 1 57 75
Choroidal Sclerosis 57 12 29 6 44 15 73
Central Areolar Choroidal Dystrophy 53 59 37
Choroidal Dystrophy 75 6 73
Cacd 57 59 75
Choroidal Dystrophy, Central Areolar 1 57 13
Choroidal Dystrophy, Central Areolar 57 75
Choroidal Dystrophy Central Areolar 53 55
Central Areolar Choroidal Sclerosis 59 73
Cacd1 57 75
Choroidal Dystrophy, Central Areolar; Cacd 57
Partial Central Choroid Dystrophy 73
Areolar Atrophy of the Macula 59
Choroidal Degenerations 12

Characteristics:

Orphanet epidemiological data:

59
central areolar choroidal dystrophy
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive
also x-linked forms


HPO:

32
choroidal dystrophy, central areolar, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 215500
Disease Ontology 12 DOID:980
ICD10 33 H31.1 H31.10
ICD9CM 35 363.4 363.40
SNOMED-CT 68 47638000
Orphanet 59 ORPHA75377
UMLS via Orphanet 74 C1536451
MESH via Orphanet 45 C535358
ICD10 via Orphanet 34 H31.2
KEGG 37 H01768
SNOMED-CT via HPO 69 258211005

Summaries for Choroidal Dystrophy, Central Areolar, 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 75377Disease definitionCentral areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.Visit the Orphanet disease page for more resources.

MalaCards based summary : Choroidal Dystrophy, Central Areolar, 1, also known as choroidal sclerosis, is related to bietti crystalline corneoretinal dystrophy and partial central choroid dystrophy. An important gene associated with Choroidal Dystrophy, Central Areolar, 1 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, and related phenotypes are choriocapillaris atrophy and nervous system

OMIM : 57 Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by Boon et al., 2009). (215500)

UniProtKB/Swiss-Prot : 75 Choroidal dystrophy, central areolar, 1: A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive.

Related Diseases for Choroidal Dystrophy, Central Areolar, 1

Diseases in the Choroidal Dystrophy, Central Areolar, 1 family:

Choroidal Dystrophy, Central Areolar 2 Choroidal Dystrophy, Central Areolar, 3

Diseases related to Choroidal Dystrophy, Central Areolar, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 bietti crystalline corneoretinal dystrophy 31.7 CYP4V2 PRPH2
2 partial central choroid dystrophy 31.0 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1 TAP1
3 hereditary choroidal atrophy 30.9 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1 TAP1
4 choroidal dystrophy, central areolar, 3 12.6
5 ataxia - hypogonadism - choroidal dystrophy 12.4
6 partial circumpapillary choroid dystrophy 12.1
7 central gyrate choroidal dystrophy 12.1
8 choroideremia 11.7
9 perrault syndrome 1 11.1
10 choroidal dystrophy, central areolar 2 11.1
11 boucher-neuhauser syndrome 11.1
12 cone dystrophy 3 11.1
13 gordon holmes syndrome 11.0
14 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
15 peripheral retinal degeneration 10.1 PRPH2 TIMP3
16 cone-rod dystrophy 6 10.0 GUCA1A GUCY2D
17 hypogonadotropic hypogonadism 10.0
18 hypogonadism 10.0
19 sveinsson chorioretinal atrophy 10.0
20 stargardt macular degeneration 10.0 PRPH2 RIMS1
21 retinal disease 10.0 GUCA1A GUCY2D PRPH2
22 retinal degeneration 10.0 GUCA1A GUCY2D PRPH2
23 prolonged electroretinal response suppression 10.0 GUCY2D PRPH2
24 leber congenital amaurosis 1 10.0 GUCA1A GUCA1B GUCY2D
25 hereditary retinal dystrophy 10.0 GUCY2D SPATA7 TIMP3
26 autosomal dominant cerebellar ataxia 9.9
27 eye degenerative disease 9.9 CYP4V2 GUCA1A GUCY2D PRPH2
28 aceruloplasminemia 9.8
29 exudative vitreoretinopathy 1 9.8
30 birdshot chorioretinopathy 9.8
31 pseudoxanthoma elasticum 9.7
32 localized scleroderma 9.7
33 degos 'en cocarde' erythrokeratoderma 9.7
34 cone-rod dystrophy 2 9.5 CYP4V2 GUCA1A GUCY2D PRPH2 RIMS1 TIMP3
35 leber congenital amaurosis 9.3 CYP4V2 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1
36 fundus dystrophy 9.0 BBS12 CYP4V2 GUCA1A GUCA1B GUCY2D PRPH2
37 retinitis pigmentosa 9.0 BBS12 CYP4V2 GUCA1A GUCA1B GUCY2D PRPH2

Graphical network of the top 20 diseases related to Choroidal Dystrophy, Central Areolar, 1:



Diseases related to Choroidal Dystrophy, Central Areolar, 1

Symptoms & Phenotypes for Choroidal Dystrophy, Central Areolar, 1

Symptoms via clinical synopsis from OMIM:

57
Eyes:
choroidal sclerosis
choriocapillaris atrophy


Clinical features from OMIM:

215500

Human phenotypes related to Choroidal Dystrophy, Central Areolar, 1:

32
# Description HPO Frequency HPO Source Accession
1 choriocapillaris atrophy 32 HP:0030491

MGI Mouse Phenotypes related to Choroidal Dystrophy, Central Areolar, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 BBS12 GUCA1A GUCY2D PRPH2 RIMS1 SPATA7
2 vision/eye MP:0005391 9.23 BBS12 CYP4V2 GUCA1A GUCA1B GUCY2D PRPH2

Drugs & Therapeutics for Choroidal Dystrophy, Central Areolar, 1

Search Clinical Trials , NIH Clinical Center for Choroidal Dystrophy, Central Areolar, 1

Cochrane evidence based reviews: choroidal sclerosis

Genetic Tests for Choroidal Dystrophy, Central Areolar, 1

Genetic tests related to Choroidal Dystrophy, Central Areolar, 1:

# Genetic test Affiliating Genes
1 Choroidal Sclerosis 29 GUCY2D

Anatomical Context for Choroidal Dystrophy, Central Areolar, 1

MalaCards organs/tissues related to Choroidal Dystrophy, Central Areolar, 1:

41
Eye

Publications for Choroidal Dystrophy, Central Areolar, 1

Articles related to Choroidal Dystrophy, Central Areolar, 1:

(show all 17)
# Title Authors Year
1
Fundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosis. ( 20224472 )
2010
2
Choroidal sclerosis in localized scleroderma (morphea en plaque). ( 18223304 )
2008
3
Annular choroidal sclerosis. ( 952825 )
1976
4
Degenerative choroidal sclerosis with a peculiar bilateral pattern. ( 1147496 )
1975
5
X-linked choroidal sclerosis. A stage of choroideremia. ( 4827609 )
1974
6
Senile choroidal sclerosis. ( 4694397 )
1973
7
Fluorescein studies of choroidal sclerosis. ( 5100469 )
1971
8
Circinate choroidal sclerosis. ( 5425205 )
1970
9
Fluorescein photography in choroidal sclerosis. ( 5764681 )
1969
10
CENTRAL CHOROIDAL SCLEROSIS. A CLINICAL AND PATHOLOGIC STUDY. ( 14195983 )
1964
11
Choroidal sclerosis; a possible intermediate sex-linked form. ( 13293325 )
1956
12
Generalized choroidal sclerosis; course and mode of inheritance. ( 14378508 )
1955
13
Central areolar choroidal sclerosis; a histo-pathological study. ( 13032370 )
1953
14
Central areolar choroidal sclerosis. ( 13032369 )
1953
15
Familial Central and Peripapillary Choroidal Sclerosis Associated with Familial Pseudoxanthoma Elasticum. ( 16693479 )
1948
16
Choroidal Sclerosis: (Section of Ophthalmology). ( 19990208 )
1935
17
Choroidal Sclerosis. ( 19985446 )
1926

Variations for Choroidal Dystrophy, Central Areolar, 1

ClinVar genetic disease variations for Choroidal Dystrophy, Central Areolar, 1:

6 (show top 50) (show all 103)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPH2 NM_000322.4(PRPH2): c.318T> C (p.Val106=) single nucleotide variant Benign/Likely benign rs7764439 GRCh37 Chromosome 6, 42689755: 42689755
2 PRPH2 NM_000322.4(PRPH2): c.318T> C (p.Val106=) single nucleotide variant Benign/Likely benign rs7764439 GRCh38 Chromosome 6, 42722017: 42722017
3 PRPH2 NM_000322.4(PRPH2): c.938C> T (p.Pro313Leu) single nucleotide variant Uncertain significance rs61748434 GRCh37 Chromosome 6, 42666136: 42666136
4 PRPH2 NM_000322.4(PRPH2): c.938C> T (p.Pro313Leu) single nucleotide variant Uncertain significance rs61748434 GRCh38 Chromosome 6, 42698398: 42698398
5 PRPH2 NM_000322.4(PRPH2): c.910C> G (p.Gln304Glu) single nucleotide variant Benign/Likely benign rs390659 GRCh38 Chromosome 6, 42698426: 42698426
6 PRPH2 NM_000322.4(PRPH2): c.910C> G (p.Gln304Glu) single nucleotide variant Benign/Likely benign rs390659 GRCh37 Chromosome 6, 42666164: 42666164
7 PRPH2 NM_000322.4(PRPH2): c.929G> A (p.Arg310Lys) single nucleotide variant Benign/Likely benign rs425876 GRCh37 Chromosome 6, 42666145: 42666145
8 PRPH2 NM_000322.4(PRPH2): c.929G> A (p.Arg310Lys) single nucleotide variant Benign/Likely benign rs425876 GRCh38 Chromosome 6, 42698407: 42698407
9 PRPH2 NM_000322.4(PRPH2): c.1013A> G (p.Asp338Gly) single nucleotide variant Benign/Likely benign rs434102 GRCh37 Chromosome 6, 42666061: 42666061
10 PRPH2 NM_000322.4(PRPH2): c.1013A> G (p.Asp338Gly) single nucleotide variant Benign/Likely benign rs434102 GRCh38 Chromosome 6, 42698323: 42698323
11 PRPH2 NM_000322.4(PRPH2): c.-11A> C single nucleotide variant Benign/Likely benign rs114062933 GRCh37 Chromosome 6, 42690083: 42690083
12 PRPH2 NM_000322.4(PRPH2): c.-11A> C single nucleotide variant Benign/Likely benign rs114062933 GRCh38 Chromosome 6, 42722345: 42722345
13 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh37 Chromosome 6, 42666020: 42666020
14 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh38 Chromosome 6, 42698282: 42698282
15 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Conflicting interpretations of pathogenicity rs189358082 GRCh37 Chromosome 6, 42672130: 42672130
16 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Conflicting interpretations of pathogenicity rs189358082 GRCh38 Chromosome 6, 42704392: 42704392
17 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh38 Chromosome 6, 42696715: 42696715
18 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh37 Chromosome 6, 42664453: 42664453
19 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh37 Chromosome 6, 42664734: 42664734
20 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh38 Chromosome 6, 42696996: 42696996
21 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh37 Chromosome 6, 42665044: 42665044
22 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh38 Chromosome 6, 42697306: 42697306
23 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh37 Chromosome 6, 42665194: 42665194
24 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh38 Chromosome 6, 42697456: 42697456
25 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh37 Chromosome 6, 42665271: 42665271
26 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh38 Chromosome 6, 42697533: 42697533
27 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh37 Chromosome 6, 42665820: 42665820
28 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh38 Chromosome 6, 42698082: 42698082
29 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh37 Chromosome 6, 42665859: 42665859
30 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh38 Chromosome 6, 42698121: 42698121
31 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh37 Chromosome 6, 42665879: 42665879
32 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh38 Chromosome 6, 42698141: 42698141
33 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh37 Chromosome 6, 42690131: 42690131
34 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh38 Chromosome 6, 42722393: 42722393
35 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh37 Chromosome 6, 42690354: 42690354
36 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh38 Chromosome 6, 42722616: 42722616
37 PRPH2 NM_000322.4(PRPH2): c.*1687C> T single nucleotide variant Uncertain significance rs139177846 GRCh38 Chromosome 6, 42696608: 42696608
38 PRPH2 NM_000322.4(PRPH2): c.*1687C> T single nucleotide variant Uncertain significance rs139177846 GRCh37 Chromosome 6, 42664346: 42664346
39 PRPH2 NM_000322.4(PRPH2): c.*1534T> C single nucleotide variant Likely benign rs115252154 GRCh38 Chromosome 6, 42696761: 42696761
40 PRPH2 NM_000322.4(PRPH2): c.*1534T> C single nucleotide variant Likely benign rs115252154 GRCh37 Chromosome 6, 42664499: 42664499
41 PRPH2 NM_000322.4(PRPH2): c.*1408G> C single nucleotide variant Uncertain significance rs573667549 GRCh37 Chromosome 6, 42664625: 42664625
42 PRPH2 NM_000322.4(PRPH2): c.*1408G> C single nucleotide variant Uncertain significance rs573667549 GRCh38 Chromosome 6, 42696887: 42696887
43 PRPH2 NM_000322.4(PRPH2): c.*1375C> T single nucleotide variant Likely benign rs405043 GRCh37 Chromosome 6, 42664658: 42664658
44 PRPH2 NM_000322.4(PRPH2): c.*1375C> T single nucleotide variant Likely benign rs405043 GRCh38 Chromosome 6, 42696920: 42696920
45 PRPH2 NM_000322.4(PRPH2): c.*917G> A single nucleotide variant Uncertain significance rs185036139 GRCh37 Chromosome 6, 42665116: 42665116
46 PRPH2 NM_000322.4(PRPH2): c.*917G> A single nucleotide variant Uncertain significance rs185036139 GRCh38 Chromosome 6, 42697378: 42697378
47 PRPH2 NM_000322.4(PRPH2): c.*898C> A single nucleotide variant Likely benign rs3176988 GRCh37 Chromosome 6, 42665135: 42665135
48 PRPH2 NM_000322.4(PRPH2): c.*898C> A single nucleotide variant Likely benign rs3176988 GRCh38 Chromosome 6, 42697397: 42697397
49 PRPH2 NM_000322.4(PRPH2): c.*797G> A single nucleotide variant Uncertain significance rs188694434 GRCh37 Chromosome 6, 42665236: 42665236
50 PRPH2 NM_000322.4(PRPH2): c.*797G> A single nucleotide variant Uncertain significance rs188694434 GRCh38 Chromosome 6, 42697498: 42697498

Expression for Choroidal Dystrophy, Central Areolar, 1

Search GEO for disease gene expression data for Choroidal Dystrophy, Central Areolar, 1.

Pathways for Choroidal Dystrophy, Central Areolar, 1

GO Terms for Choroidal Dystrophy, Central Areolar, 1

Cellular components related to Choroidal Dystrophy, Central Areolar, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 8.96 GUCA1A GUCA1B
2 photoreceptor disc membrane GO:0097381 8.8 GUCA1A GUCA1B GUCY2D

Biological processes related to Choroidal Dystrophy, Central Areolar, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 CYP4V2 GUCA1A GUCA1B GUCY2D RIMS1 SPATA7
2 photoreceptor cell maintenance GO:0045494 9.43 BBS12 SPATA7
3 phototransduction GO:0007602 9.4 GUCA1A GUCA1B
4 receptor guanylyl cyclase signaling pathway GO:0007168 9.37 GUCA1B GUCY2D
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.33 GUCA1A GUCA1B GUCY2D
6 positive regulation of guanylate cyclase activity GO:0031284 9.32 GUCA1A GUCA1B
7 regulation of guanylate cyclase activity GO:0031282 9.26 GUCA1A GUCA1B
8 visual perception GO:0007601 9.23 CYP4V2 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1

Molecular functions related to Choroidal Dystrophy, Central Areolar, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium sensitive guanylate cyclase activator activity GO:0008048 8.96 GUCA1A GUCA1B
2 guanylate cyclase regulator activity GO:0030249 8.62 GUCA1A GUCA1B

Sources for Choroidal Dystrophy, Central Areolar, 1

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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