Choroidal Dystrophy, Central Areolar, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CACD1 MCID: CHR637 MIFTS: 41	Choroidal Dystrophy, Central Areolar, 1 (CACD1) Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Diseases of the eye and adnexa

Disorders of choroid and retina

Other disorders of choroid

Choroidal degeneration

Hereditary choroidal dystrophy

Orphanet: ⁶⁰

Rare eye diseases

External Ids:

Disease Ontology ¹² DOID:980

OMIM ⁵⁸ 215500

KEGG ³⁸ H01768

ICD9CM ³⁶ 363.4 363.40

MeSH ⁴⁵ C535358 D012164

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

MedGen ⁴³ C0344297 C1536451

SNOMED-CT via HPO ⁷⁰ 258211005

UMLS ⁷⁴ C0339427 C0344297 C0730291 more

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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.

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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:

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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

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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

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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

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Anatomical Context for Choroidal Dystrophy, Central Areolar, 1

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

⁴²

Eye

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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 )	Hughes AE...Bradley DT	2012
2	Fundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosis. ( 20224472 )	Hwang JC...Tsang SH	2010
3	Choroidal sclerosis in localized scleroderma (morphea en plaque). ( 18223304 )	Milenkovic S...Ivancevic-Milenkovic M	2008
4	Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. ( 8733141 )	Lotery AJ...Hughes AE	1996
5	Annular choroidal sclerosis. ( 952825 )	Chopdar A	1976
6	Degenerative choroidal sclerosis with a peculiar bilateral pattern. ( 1147496 )	Zimmerman TJ...Fitzgerald CR	1975
7	X-linked choroidal sclerosis. A stage of choroideremia. ( 4827609 )	Shapiro I...Gorlin RJ	1974
8	Senile choroidal sclerosis. ( 4694397 )	Sarks SH	1973
9	Fluorescein studies of choroidal sclerosis. ( 5100469 )	Archer D...Newell FW	1971
10	Circinate choroidal sclerosis. ( 5425205 )	Schocket SS...Ballin N	1970
11	Fluorescein photography in choroidal sclerosis. ( 5764681 )	Curry HF...Schonberg SS	1969
12	CENTRAL CHOROIDAL SCLEROSIS. A CLINICAL AND PATHOLOGIC STUDY. ( 14195983 )	HOWARD GM...WOLF E	1964
13	Choroidal sclerosis; a possible intermediate sex-linked form. ( 13293325 )	SORSBY A...SAVORY M	1956
14	Generalized choroidal sclerosis; course and mode of inheritance. ( 14378508 )	SORSBY A...DAVEY JB	1955
15	Central areolar choroidal sclerosis. ( 13032369 )	SORSBY A...CRICK RP	1953
16	Central areolar choroidal sclerosis; a histo-pathological study. ( 13032370 )	ASHTON N	1953
17	Familial Central and Peripapillary Choroidal Sclerosis Associated with Familial Pseudoxanthoma Elasticum. ( 16693479 )	Anderson B	1948
18	Choroidal Sclerosis: (Section of Ophthalmology). ( 19990208 )	Sorsby A	1935
19	Choroidal Sclerosis. ( 19985446 )	Cardell JD	1926

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Genes for Choroidal Dystrophy, Central Areolar, 1

Genes related to Choroidal Dystrophy, Central Areolar, 1 (4 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	1434.52	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22695961 8733141 20301475 (more) 30285347
2	PRPH2	Peripherin 2	Protein Coding	367.39	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
3	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	366.93	Causative germline mutation (gain of function) ⁶⁰ DISEASES inferred ¹⁵
4	CACD3	Choroidal Dystrophy, Central Areolar 3	Genetic Locus	50	MalaCards inferred ⁴²
5	TIMP3	TIMP Metallopeptidase Inhibitor 3	Protein Coding	23.22	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	9152224
6	CYP4V2	Cytochrome P450 Family 4 Subfamily V Member 2	Protein Coding	16.78	DISEASES inferred ¹⁵
7	SPATA7	Spermatogenesis Associated 7	Protein Coding	16.23	DISEASES inferred ¹⁵
8	GUCA1B	Guanylate Cyclase Activator 1B	Protein Coding	15.96	DISEASES inferred ¹⁵
9	RIMS1	Regulating Synaptic Membrane Exocytosis 1	Protein Coding	15.67	DISEASES inferred ¹⁵
10	TAP1	Transporter 1, ATP Binding Cassette Subfamily B Member	Protein Coding	15.64	DISEASES inferred ¹⁵
11	UNC119	Unc-119 Lipid Binding Chaperone	Protein Coding	15.59	DISEASES inferred ¹⁵

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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

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Expression for Choroidal Dystrophy, Central Areolar, 1

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

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Pathways for Choroidal Dystrophy, Central Areolar, 1

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of fat-soluble vitamins ⁶⁷ Show member pathways Metabolism of vitamin K ⁶⁷ Retinoid metabolism and transport ⁶⁷ The retinoid cycle in cones (daylight vision) ⁶⁷ Visual phototransduction ⁶⁷ Vitamin D (calciferol) metabolism ⁶⁷	11.79	CYP4V2 GUCA1A GUCA1B GUCY2D
2	Phototransduction ³⁸ Show member pathways Activation of the phototransduction cascade ⁶⁷ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁷ The phototransduction cascade ⁶⁷ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.63	GUCA1A GUCA1B GUCY2D
3	Visual Cycle in Retinal Rods ⁶⁵	10.9	GUCA1A GUCA1B GUCY2D TAP1
4	Development_Thrombopoetin signaling via JAK-STAT pathway ²³	10.62	GUCA1A GUCA1B GUCY2D TAP1

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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

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Choroidal Dystrophy, Central Areolar, 1 (CACD1)

Aliases & Classifications for Choroidal Dystrophy, Central Areolar, 1

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Cochrane evidence based reviews: choroidal sclerosis

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Genes for Choroidal Dystrophy, Central Areolar, 1

Genes related to Choroidal Dystrophy, Central Areolar, 1 (4 elite genes):

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