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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the eye and adnexa

Disorders of choroid and retina

Other disorders of choroid

Choroidal degeneration

Hereditary choroidal dystrophy

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

MeSH ⁴⁴ C535358 D012164

SNOMED-CT ⁶⁸ 47638000

Orphanet ⁵⁹ ORPHA75377

UMLS via Orphanet ⁷⁴ C1536451

MESH via Orphanet ⁴⁵ C535358

ICD10 via Orphanet ³⁴ H31.2

MedGen ⁴² C1536451 C0344297

KEGG ³⁷ H01768

SNOMED-CT via HPO ⁶⁹ 258211005

UMLS ⁷³ C0344297 C1536451 C0339427 more

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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.

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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 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:

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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

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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

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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 ²⁹	GUCY2D

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Anatomical Context for Choroidal Dystrophy, Central Areolar, 1

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

⁴¹

Eye

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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 )	Milenkovic S....Ivancevic-Milenkovic M.	2008
3	Annular choroidal sclerosis. ( 952825 )	Chopdar A.	1976
4	Degenerative choroidal sclerosis with a peculiar bilateral pattern. ( 1147496 )	Zimmerman T.J....Fitzgerald C.R.	1975
5	X-linked choroidal sclerosis. A stage of choroideremia. ( 4827609 )	Shapiro I....Gorlin R.J.	1974
6	Senile choroidal sclerosis. ( 4694397 )	Sarks S.H.	1973
7	Fluorescein studies of choroidal sclerosis. ( 5100469 )	Archer D....NEWELL F.W.	1971
8	Circinate choroidal sclerosis. ( 5425205 )	Schocket SS...Ballin N	1970
9	Fluorescein photography in choroidal sclerosis. ( 5764681 )	Curry H.F....Schonberg S.S.	1969
10	CENTRAL CHOROIDAL SCLEROSIS. A CLINICAL AND PATHOLOGIC STUDY. ( 14195983 )	HOWARD G.M....Wolf E.	1964
11	Choroidal sclerosis; a possible intermediate sex-linked form. ( 13293325 )	Sorsby A....SAVORY M.	1956
12	Generalized choroidal sclerosis; course and mode of inheritance. ( 14378508 )	Sorsby A....DAVEY J.B.	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 )	Anderson B.	1948
16	Choroidal Sclerosis: (Section of Ophthalmology). ( 19990208 )		1935
17	Choroidal Sclerosis. ( 19985446 )	Cardell J.D.	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	934.52	Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Genetic linkage ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22695961 8733141
2	PRPH2	Peripherin 2	Protein Coding	367.3	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
3	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	366.89	Causative germline mutation (gain of function) ⁵⁹ DISEASES inferred ¹⁵
4	CACD3	Choroidal Dystrophy, Central Areolar 3	Genetic Locus	50	MalaCards inferred ⁴¹
5	TIMP3	TIMP Metallopeptidase Inhibitor 3	Protein Coding	23.18	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	9152224
6	CYP4V2	Cytochrome P450 Family 4 Subfamily V Member 2	Protein Coding	16.68	DISEASES inferred ¹⁵
7	SPATA7	Spermatogenesis Associated 7	Protein Coding	16.2	DISEASES inferred ¹⁵
8	GUCA1B	Guanylate Cyclase Activator 1B	Protein Coding	15.87	DISEASES inferred ¹⁵
9	RIMS1	Regulating Synaptic Membrane Exocytosis 1	Protein Coding	15.7	DISEASES inferred ¹⁵
10	TAP1	Transporter 1, ATP Binding Cassette Subfamily B Member	Protein Coding	15.65	DISEASES inferred ¹⁵
11	BBS12	Bardet-Biedl Syndrome 12	Protein Coding	15.49	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 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

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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 ⁶⁶ Show member pathways Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ Visual phototransduction ⁶⁶ Vitamin D (calciferol) metabolism ⁶⁶	11.79	CYP4V2 GUCA1A GUCA1B GUCY2D
2	Phototransduction ³⁷ Show member pathways Activation of the phototransduction cascade ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ The phototransduction cascade ⁶⁶ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.63	GUCA1A GUCA1B GUCY2D
3	Visual Cycle in Retinal Rods ⁶⁴	10.9	GUCA1A GUCA1B GUCY2D TAP1
4	Development_Thrombopoetin signaling via JAK-STAT pathway ²²	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	9.5	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

Sources for Choroidal Dystrophy, Central Areolar, 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

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Choroidal Dystrophy, Central Areolar, 1 (CACD1)

Aliases & Classifications for Choroidal Dystrophy, Central Areolar, 1

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Choroidal Dystrophy, Central Areolar, 1

Related Diseases for Choroidal Dystrophy, Central Areolar, 1

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

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

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

Symptoms & Phenotypes for Choroidal Dystrophy, Central Areolar, 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

Drugs & Therapeutics 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:

Anatomical Context for Choroidal Dystrophy, Central Areolar, 1

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

Publications for Choroidal Dystrophy, Central Areolar, 1

Articles related to Choroidal Dystrophy, Central Areolar, 1:

Genes for Choroidal Dystrophy, Central Areolar, 1

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

Variations for Choroidal Dystrophy, Central Areolar, 1

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

Expression for Choroidal Dystrophy, Central Areolar, 1

Pathways for Choroidal Dystrophy, Central Areolar, 1

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

GO Terms for Choroidal Dystrophy, Central Areolar, 1

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

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

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

Sources for Choroidal Dystrophy, Central Areolar, 1