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 58 76
Choroidal Sclerosis 58 12 30 6 45 15 74
Central Areolar Choroidal Dystrophy 54 60 38
Choroidal Dystrophy 76 6 74
Cacd 58 60 76
Choroidal Dystrophy, Central Areolar 1 58 13
Choroidal Dystrophy, Central Areolar 58 76
Choroidal Dystrophy Central Areolar 54 56
Central Areolar Choroidal Sclerosis 60 74
Cacd1 58 76
Choroidal Dystrophy, Central Areolar; Cacd 58
Partial Central Choroid Dystrophy 74
Areolar Atrophy of the Macula 60
Choroidal Degenerations 12

Characteristics:

Orphanet epidemiological data:

60
central areolar choroidal dystrophy
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on one large irish family (last curated december 2017)
onset of symptoms in fourth and fifth decades


HPO:

33
choroidal dystrophy, central areolar, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:980
OMIM 58 215500
KEGG 38 H01768
ICD9CM 36 363.4 363.40
SNOMED-CT 69 47638000
ICD10 34 H31.1 H31.10
MESH via Orphanet 46 C535358
ICD10 via Orphanet 35 H31.2
UMLS via Orphanet 75 C1536451
Orphanet 60 ORPHA75377
SNOMED-CT via HPO 70 258211005

Summaries for Choroidal Dystrophy, Central Areolar, 1

NIH Rare Diseases : 54 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 vision/eye

OMIM : 58 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 : 76 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 45)
# Related Disease Score Top Affiliating Genes
1 bietti crystalline corneoretinal dystrophy 31.8 CYP4V2 PRPH2
2 partial central choroid dystrophy 29.9 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1 TAP1
3 hereditary choroidal atrophy 29.9 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1 TAP1
4 choroidal dystrophy, central areolar, 3 12.6
5 ataxia - hypogonadism - choroidal dystrophy 12.5
6 partial circumpapillary choroid dystrophy 12.2
7 central gyrate choroidal dystrophy 12.2
8 choroideremia 11.7
9 boucher-neuhauser syndrome 11.5
10 cone-rod dystrophy and hearing loss 2 11.2
11 choroidal dystrophy, central areolar 2 11.1
12 cone dystrophy 3 11.1
13 gordon holmes syndrome 11.1
14 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
16 sensorineural hearing loss 10.2
17 peripheral retinal degeneration 10.1 PRPH2 TIMP3
18 sveinsson chorioretinal atrophy 10.1
19 cone-rod dystrophy 6 10.0 GUCA1A GUCY2D
20 stargardt macular degeneration 10.0 PRPH2 RIMS1
21 hypogonadotropic hypogonadism 10.0
22 hypogonadism 10.0
23 hypogonadotropism 10.0
24 retinal disease 10.0 GUCA1A GUCY2D PRPH2
25 retinal degeneration 10.0 GUCA1A GUCY2D PRPH2
26 prolonged electroretinal response suppression 9.9 GUCY2D PRPH2
27 autosomal dominant cerebellar ataxia 9.9
28 leber congenital amaurosis 1 9.9 GUCA1A GUCA1B GUCY2D
29 hereditary retinal dystrophy 9.9 GUCY2D SPATA7 TIMP3
30 eye degenerative disease 9.8 CYP4V2 GUCA1A GUCY2D PRPH2
31 macular dystrophy, dominant cystoid 9.8
32 megalocornea-mental retardation syndrome 9.8
33 aceruloplasminemia 9.8
34 macular retinal edema 9.8
35 megalocornea-intellectual disability syndrome 9.8
36 exudative vitreoretinopathy 1 9.8
37 birdshot chorioretinopathy 9.8
38 pseudoxanthoma elasticum 9.7
39 systemic scleroderma 9.7
40 localized scleroderma 9.7
41 degos 'en cocarde' erythrokeratoderma 9.7
42 cone-rod dystrophy 2 9.0 CYP4V2 GUCA1A GUCY2D PRPH2 RIMS1 TIMP3
43 leber congenital amaurosis 8.9 CYP4V2 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1
44 fundus dystrophy 8.7 CYP4V2 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1
45 retinitis pigmentosa 8.4 CYP4V2 GUCA1A GUCA1B GUCY2D PRPH2 RIMS1

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

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

33
# Description HPO Frequency HPO Source Accession
1 choriocapillaris atrophy 33 HP:0030491

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
loss of central vision, mild
parafoveal pigment clumping
parafoveal retinal pigment epithelium atrophy, well-circumscribed and progressive
choriocapillaris atrophy, progressive
neural retinal atrophy, progressive

Clinical features from OMIM:

215500

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 CYP4V2 GUCA1A GUCA1B GUCY2D PRPH2 SPATA7

Drugs & Therapeutics for Choroidal Dystrophy, Central Areolar, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Study Of Nearsightedness; TReatment With Orthokeratology Lenses (CONTROL) Active, not recruiting NCT03246464 Not Applicable
2 Clinical Study Of Nearsightedness, TReatment With Orthokeratology Lenses 2 Enrolling by invitation NCT03774992 Not Applicable

Search 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 30 GUCY2D

Anatomical Context for Choroidal Dystrophy, Central Areolar, 1

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

42
Eye

Publications for Choroidal Dystrophy, Central Areolar, 1

Articles related to Choroidal Dystrophy, Central Areolar, 1:

(show all 19)
# Title Authors Year
1
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. ( 22695961 )
2012
2
Fundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosis. ( 20224472 )
2010
3
Choroidal sclerosis in localized scleroderma (morphea en plaque). ( 18223304 )
2008
4
Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. ( 8733141 )
1996
5
Annular choroidal sclerosis. ( 952825 )
1976
6
Degenerative choroidal sclerosis with a peculiar bilateral pattern. ( 1147496 )
1975
7
X-linked choroidal sclerosis. A stage of choroideremia. ( 4827609 )
1974
8
Senile choroidal sclerosis. ( 4694397 )
1973
9
Fluorescein studies of choroidal sclerosis. ( 5100469 )
1971
10
Circinate choroidal sclerosis. ( 5425205 )
1970
11
Fluorescein photography in choroidal sclerosis. ( 5764681 )
1969
12
CENTRAL CHOROIDAL SCLEROSIS. A CLINICAL AND PATHOLOGIC STUDY. ( 14195983 )
1964
13
Choroidal sclerosis; a possible intermediate sex-linked form. ( 13293325 )
1956
14
Generalized choroidal sclerosis; course and mode of inheritance. ( 14378508 )
1955
15
Central areolar choroidal sclerosis. ( 13032369 )
1953
16
Central areolar choroidal sclerosis; a histo-pathological study. ( 13032370 )
1953
17
Familial Central and Peripapillary Choroidal Sclerosis Associated with Familial Pseudoxanthoma Elasticum. ( 16693479 )
1948
18
Choroidal Sclerosis: (Section of Ophthalmology). ( 19990208 )
1935
19
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 111)
# 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 GUCY2D NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs61750168 GRCh37 Chromosome 17, 7917236: 7917236
4 GUCY2D NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs61750168 GRCh38 Chromosome 17, 8013918: 8013918
5 GUCY2D NM_000180.3(GUCY2D): c.2927G> T (p.Arg976Leu) single nucleotide variant Uncertain significance rs61750184 GRCh37 Chromosome 17, 7918803: 7918803
6 GUCY2D NM_000180.3(GUCY2D): c.2927G> T (p.Arg976Leu) single nucleotide variant Uncertain significance rs61750184 GRCh38 Chromosome 17, 8015485: 8015485
7 PRPH2 NM_000322.4(PRPH2): c.938C> T (p.Pro313Leu) single nucleotide variant Uncertain significance rs61748434 GRCh37 Chromosome 6, 42666136: 42666136
8 PRPH2 NM_000322.4(PRPH2): c.938C> T (p.Pro313Leu) single nucleotide variant Uncertain significance rs61748434 GRCh38 Chromosome 6, 42698398: 42698398
9 PRPH2 NM_000322.4(PRPH2): c.910C> G (p.Gln304Glu) single nucleotide variant Benign/Likely benign rs390659 GRCh38 Chromosome 6, 42698426: 42698426
10 PRPH2 NM_000322.4(PRPH2): c.910C> G (p.Gln304Glu) single nucleotide variant Benign/Likely benign rs390659 GRCh37 Chromosome 6, 42666164: 42666164
11 PRPH2 NM_000322.4(PRPH2): c.929G> A (p.Arg310Lys) single nucleotide variant Benign/Likely benign rs425876 GRCh37 Chromosome 6, 42666145: 42666145
12 PRPH2 NM_000322.4(PRPH2): c.929G> A (p.Arg310Lys) single nucleotide variant Benign/Likely benign rs425876 GRCh38 Chromosome 6, 42698407: 42698407
13 PRPH2 NM_000322.4(PRPH2): c.1013A> G (p.Asp338Gly) single nucleotide variant Benign/Likely benign rs434102 GRCh37 Chromosome 6, 42666061: 42666061
14 PRPH2 NM_000322.4(PRPH2): c.1013A> G (p.Asp338Gly) single nucleotide variant Benign/Likely benign rs434102 GRCh38 Chromosome 6, 42698323: 42698323
15 PRPH2 NM_000322.5(PRPH2): c.-11A> C single nucleotide variant Benign/Likely benign rs114062933 GRCh37 Chromosome 6, 42690083: 42690083
16 PRPH2 NM_000322.5(PRPH2): c.-11A> C single nucleotide variant Benign/Likely benign rs114062933 GRCh38 Chromosome 6, 42722345: 42722345
17 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh37 Chromosome 6, 42666020: 42666020
18 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh38 Chromosome 6, 42698282: 42698282
19 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Conflicting interpretations of pathogenicity rs189358082 GRCh37 Chromosome 6, 42672130: 42672130
20 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Conflicting interpretations of pathogenicity rs189358082 GRCh38 Chromosome 6, 42704392: 42704392
21 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh38 Chromosome 6, 42696715: 42696715
22 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh37 Chromosome 6, 42664453: 42664453
23 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh37 Chromosome 6, 42664734: 42664734
24 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh38 Chromosome 6, 42696996: 42696996
25 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh37 Chromosome 6, 42665044: 42665044
26 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh38 Chromosome 6, 42697306: 42697306
27 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh37 Chromosome 6, 42665194: 42665194
28 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh38 Chromosome 6, 42697456: 42697456
29 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh37 Chromosome 6, 42665271: 42665271
30 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh38 Chromosome 6, 42697533: 42697533
31 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh38 Chromosome 6, 42698082: 42698082
32 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh37 Chromosome 6, 42665820: 42665820
33 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh38 Chromosome 6, 42698121: 42698121
34 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh37 Chromosome 6, 42665859: 42665859
35 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh38 Chromosome 6, 42698141: 42698141
36 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh37 Chromosome 6, 42665879: 42665879
37 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh38 Chromosome 6, 42722393: 42722393
38 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh37 Chromosome 6, 42690131: 42690131
39 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh38 Chromosome 6, 42722616: 42722616
40 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh37 Chromosome 6, 42690354: 42690354
41 PRPH2 NM_000322.4(PRPH2): c.*1687C> T single nucleotide variant Uncertain significance rs139177846 GRCh38 Chromosome 6, 42696608: 42696608
42 PRPH2 NM_000322.4(PRPH2): c.*1687C> T single nucleotide variant Uncertain significance rs139177846 GRCh37 Chromosome 6, 42664346: 42664346
43 PRPH2 NM_000322.4(PRPH2): c.*1534T> C single nucleotide variant Likely benign rs115252154 GRCh38 Chromosome 6, 42696761: 42696761
44 PRPH2 NM_000322.4(PRPH2): c.*1534T> C single nucleotide variant Likely benign rs115252154 GRCh37 Chromosome 6, 42664499: 42664499
45 PRPH2 NM_000322.4(PRPH2): c.*1408G> C single nucleotide variant Uncertain significance rs573667549 GRCh37 Chromosome 6, 42664625: 42664625
46 PRPH2 NM_000322.4(PRPH2): c.*1408G> C single nucleotide variant Uncertain significance rs573667549 GRCh38 Chromosome 6, 42696887: 42696887
47 PRPH2 NM_000322.4(PRPH2): c.*1375C> T single nucleotide variant Likely benign rs405043 GRCh37 Chromosome 6, 42664658: 42664658
48 PRPH2 NM_000322.4(PRPH2): c.*1375C> T single nucleotide variant Likely benign rs405043 GRCh38 Chromosome 6, 42696920: 42696920
49 PRPH2 NM_000322.4(PRPH2): c.*917G> A single nucleotide variant Uncertain significance rs185036139 GRCh37 Chromosome 6, 42665116: 42665116
50 PRPH2 NM_000322.4(PRPH2): c.*917G> A single nucleotide variant Uncertain significance rs185036139 GRCh38 Chromosome 6, 42697378: 42697378

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 9.56 CYP4V2 GUCA1A GUCA1B GUCY2D RIMS1 SPATA7
2 phototransduction GO:0007602 9.43 GUCA1A GUCA1B UNC119
3 receptor guanylyl cyclase signaling pathway GO:0007168 9.4 GUCA1B GUCY2D
4 positive regulation of guanylate cyclase activity GO:0031284 9.37 GUCA1A GUCA1B
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.33 GUCA1A GUCA1B GUCY2D
6 regulation of guanylate cyclase activity GO:0031282 9.32 GUCA1A GUCA1B
7 visual perception GO:0007601 9.28 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 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
Content
Loading form....