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

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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 ⁷³ ²⁸ ⁵

Choroidal Sclerosis ⁵⁷ ¹¹ ⁴³ ¹⁴ ⁷¹

Choroidal Dystrophy ⁷³ ⁵ ⁷¹ ³³

Choroidal Dystrophy, Central Areolar ⁵⁷ ⁷³ ¹²

Central Areolar Choroidal Dystrophy ¹⁹ ⁵⁸ ⁵

Cacd ⁵⁷ ⁵⁸ ⁷³

Choroidal Dystrophy, Central Areolar 1 ⁵⁷ ³⁸

Choroidal Dystrophy Central Areolar ¹⁹ ⁵³

Central Areolar Choroidal Sclerosis ⁵⁸ ⁷¹

Cacd1 ⁵⁷ ⁷³

Hereditary Chorioretinal Degeneration ³³

Hereditary Degeneration of Choroid ³³

Partial Central Choroid Dystrophy ⁷¹

Hereditary Choroidal Dystrophies ³³

Generalised Choroidal Dystrophy ³³

Areolar Atrophy of the Macula ⁵⁸

Degenerative Choroidopathy ³³

Chorioretinal Degeneration ³³

Hereditary Choroidopathy ³³

Choroidal Degenerations ¹¹

Characteristics:

Inheritance:

Choroidal Dystrophy, Central Areolar, 1: Autosomal dominant ⁵⁷

Central Areolar Choroidal Dystrophy: Autosomal dominant ⁵⁸

Age Of Onset:

Central Areolar Choroidal Dystrophy: Adult ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other disorders of choroid

Choroidal degeneration

Hereditary choroidal dystrophy

ICD11: ³³

Diseases of the visual system

Disorders of the eyeball - posterior segment

Disorders of the choroid

Choroidal degeneration

Choroidal dystrophy

Orphanet: ⁵⁸

Rare eye diseases

External Ids:

Disease Ontology ¹¹ DOID:980

OMIM® ⁵⁷ 215500

OMIM Phenotypic Series ⁵⁷ PS215500

ICD9CM ³⁴ 363.4

MeSH ⁴³ C535358 D012164

SNOMED-CT ⁶⁸ 47638000

ICD10 ³¹ H31.1

MESH via Orphanet ⁴⁴ C535358

ICD10 via Orphanet ³² H31.2

UMLS via Orphanet ⁷² C1536451

Orphanet ⁵⁸ ORPHA75377

MedGen ⁴⁰ C0344297 C1536451 C4551884

SNOMED-CT via HPO ⁶⁹ 13164000 18695008 238828009 more

ICD11 ³³ 1982194744 42513607

UMLS ⁷¹ C0339427 C0344297 C0730291 more

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Summaries for Choroidal Dystrophy, Central Areolar, 1

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) (Updated 08-Dec-2022)

MalaCards based summary: Choroidal Dystrophy, Central Areolar, 1, also known as choroidal sclerosis, is related to bietti crystalline corneoretinal dystrophy and choroideremia. An important gene associated with Choroidal Dystrophy, Central Areolar, 1 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Olfactory Signaling Pathway and Visual phototransduction. Affiliated tissues include eye, retina and lymph node, and related phenotypes are hyperautofluorescent macular lesion and full-thickness macular hole

GARD: ¹⁹ 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.

Orphanet: ⁵⁸ 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.

UniProtKB/Swiss-Prot: ⁷³ 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 top 50) (show all 174)

#	Related Disease	Score	Top Affiliating Genes
1	bietti crystalline corneoretinal dystrophy	31.9	USH2A RPE65 EYS CYP4V2 ABCA4
2	choroideremia	31.8	USH2A RS1 RPE65 PRPH2 GUCY2D EYS
3	partial central choroid dystrophy	31.4	RPE65 ROM1 PRPH2 OR6C75 GUCY2D GUCA1B
4	hereditary choroidal atrophy	31.2	RPE65 ROM1 PRPH2 OR6C75 GUCY2D GUCA1B
5	retinal cone dystrophy 1	30.7	GUCY2D GUCA1A CRX
6	peripheral retinal degeneration	30.7	RPE65 CNGB3 CERKL ABCA4
7	cone-rod dystrophy 6	30.7	GUCY2D GUCA1B GUCA1A
8	retinal disease	30.6	USH2A RPE65 PRPH2 NR2E3 GUCY2D GUCA1A
9	progressive cone dystrophy	30.5	PRPH2 GUCY2D GUCA1A CNGB3 ABCA4
10	refractive error	30.4	RPE65 GUCY2D ABCA4
11	scotoma	30.4	USH2A RPE65 PRPH2 GUCY2D GUCA1A CYP4V2
12	retinal perforation	30.0	RS1 RPE65
13	macular retinal edema	30.0	USH2A RPE65 NR2E3 ABCA4
14	night blindness	29.9	USH2A TIMP3 RPE65 PRPH2 NR2E3 GUCY2D
15	retinitis	29.9	USH2A RPE65 ROM1 PRPH2 EYS CERKL
16	gyrate atrophy of choroid and retina	29.9	USH2A RPE65 PRPH2 GUCA1A CYP4V2 CNGB3
17	macular dystrophy, dominant cystoid	29.8	USH2A RS1 RPE65 NR2E3 ABCA4
18	joubert syndrome 1	29.8	USH2A TTLL5 RPE65 ROM1 GUCY2D CRX
19	retinal degeneration	29.4	USH2A TIMP3 RS1 RPE65 ROM1 PRPH2
20	late-onset retinal degeneration	29.4	USH2A TIMP3 RPE65 ROM1 PRPH2 NR2E3
21	macular degeneration, age-related, 1	29.3	USH2A TIMP3 RS1 RPE65 ROM1 PRPH2
22	cone dystrophy	29.2	USH2A TTLL5 RPE65 ROM1 PRPH2 NR2E3
23	fundus dystrophy	29.0	USH2A TTLL5 TIMP3 RS1 RPE65 ROM1
24	congenital stationary night blindness	29.0	USH2A TTLL5 RS1 RPE65 ROM1 PRPH2
25	leber plus disease	28.9	USH2A TTLL5 RS1 RPE65 ROM1 PRPH2
26	eye disease	28.7	USH2A TIMP3 RS1 RPE65 ROM1 PRPH2
27	cone-rod dystrophy 2	28.7	USH2A TTLL5 TIMP3 RS1 RPE65 ROM1
28	retinitis pigmentosa	28.5	USH2A TTLL5 TIMP3 RS1 RPE65 ROM1
29	boucher-neuhauser syndrome	11.7
30	choroidal dystrophy, central areolar, 3	11.7
31	central gyrate choroidal dystrophy	11.3
32	gordon holmes syndrome	11.2
33	tapetoretinal degeneration with ataxia	11.1
34	stickler syndrome, type i	11.1
35	stickler syndrome, type ii	11.1
36	stickler syndrome, type iv	11.1
37	cone dystrophy 3	11.0
38	choroidal dystrophy, central areolar 2	11.0
39	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.5
40	macular dystrophy, concentric annular	10.4	CRX ABCA4
41	intellectual developmental disorder, autosomal dominant 3	10.3	GUCY2D GUCA1B
42	retinitis pigmentosa 91	10.3	CRX ABCA4
43	retinitis pigmentosa 9	10.3	ROM1 CRX
44	cold-induced sweating syndrome 3	10.3	RPE65 GUCY2D
45	leber congenital amaurosis 7	10.3	GUCY2D CRX
46	retinal cone dystrophy 4	10.3	ROM1 PRPH2 GUCA1A
47	pseudoretinitis pigmentosa	10.3	ROM1 CERKL
48	retinitis pigmentosa 85	10.3	EYS CERKL
49	basal laminar drusen	10.3	TIMP3 PRPH2 ABCA4
50	retinitis pigmentosa 86	10.3	USH2A EYS

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:

⁵⁸ ³⁰ (show all 18)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hyperautofluorescent macular lesion ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0030631
2	full-thickness macular hole ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0031152
3	reduced visual acuity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007663
4	macular atrophy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007401
5	slow decrease in visual acuity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007924
6	foveal photoreceptor outer segment loss on macular oct ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0030615
7	retinal pigment epithelial mottling ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007814
8	absent retinal pigment epithelium ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007980
9	choriocapillaris atrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030491
10	drusen ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0011510
11	perifoveal ring of hyperautofluorescence ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030629
12	nyctalopia ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0000662
13	dyschromatopsia ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0007641
14	visual impairment ⁵⁸		Frequent (79-30%)
15	hypopigmentation of the fundus ⁵⁸		Frequent (79-30%)
16	pigmentary retinopathy ³⁰			HP:0000580
17	visual loss ⁵⁸		Frequent (79-30%)
18	chorioretinal atrophy ⁵⁸		Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.14	ABCA4 CDHR1 CERKL CNGB3 CRX EYS
2	no effect	GR00402-S-2	10.14	ABCA4 CDHR1 CERKL CNGB3 CRX EYS

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.77	ABCA4 CERKL CNGB3 CRX GUCA1A GUCY2D
2	pigmentation	MP:0001186	9.7	ABCA4 CERKL CRX PRPH2 RPE65 RS1
3	vision/eye	MP:0005391	9.55	ABCA4 CDHR1 CERKL CNGB3 CRX CYP4V2

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Drugs & Therapeutics for Choroidal Dystrophy, Central Areolar, 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Foundation Fighting Blindness My Retina Tracker Registry	Recruiting	NCT02435940
2	Gyrate Atrophy Ocular and Systemic Study	Not yet recruiting	NCT05312736

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 Dystrophy, Central Areolar, 1 ²⁸	GUCY2D

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Anatomical Context for Choroidal Dystrophy, Central Areolar, 1

Organs/tissues related to Choroidal Dystrophy, Central Areolar, 1:

MalaCards : Eye, Retina, Lymph Node, T Cells, Heart, Ovary, Breast

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Publications for Choroidal Dystrophy, Central Areolar, 1

Articles related to Choroidal Dystrophy, Central Areolar, 1:

(show top 50) (show all 397)

#	Title	Authors	PMID	Year
1	A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. ⁶² ⁵⁷ ⁵	Hughes AE...Bradley DT	22695961	2012
2	Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. ⁶² ⁵⁷ ⁵	Lotery AJ...Hughes AE	8733141	1996
3	GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. ⁶² ⁵⁷	Chen X...Zhao C	28125083	2017
4	Central areolar choroidal dystrophy. ⁶² ⁵⁷	Boon CJ...Hoyng CB	19243827	2009
5	Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p. ⁶² ⁵⁷	Hughes AE...Silvestri G	9733038	1998
6	Central areolar choroidal sclerosis. ⁶² ⁵⁷	SORSBY A...CRICK RP	13032369	1953
7	Classification of the choroidal atrophies. ⁵⁷	Krill AE...Archer D	5315093	1971
8	[Familial angiosclerosis of the choroid]. ⁵⁷	WAARDENBURG PJ	12981242	1952
9	Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. ⁵³ ⁶²	Felbor U...Weber BH	9152224	1997
10	Detection of early bruises on loquat using hyperspectral imaging technology coupled with band ratio and improved Otsu method. ⁶²	Yin H...Ou-Yang AG	36007346	2022
11	Insidious progression of atrophic lesions in a case of posterior polar annular choroidal dystrophy. ⁶²	Sone R...Ishida S	36177298	2022
12	Early outcomes of anterior segment parameters after implantable collamer lens V4c implantation. ⁶²	Lin Q...Zhou X	36357865	2022
13	Incidence risks for subtypes of heart diseases in a Russian cohort of Mayak Production Association nuclear workers. ⁶²	Azizova TV...Hamada N	36326926	2022
14	A Fast Circle Detection Algorithm Based on Information Compression. ⁶²	Ou Y...Peng C	36236365	2022
15	Long-term follow-up of PRPH2-associated retinal dystrophy. ⁶²	Zhao Z...Souied EH	36053859	2022
16	Unsupervised Multitarget Domain Adaptation With Dictionary-Bridged Knowledge Exploitation. ⁶²	Tian Q...Chen S	35895651	2022
17	A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease. ⁶²	da Palma MM...Yang P	35856163	2022
18	Multimodal imaging in central areolar choroidal dystrophy. ⁶²	Poornachandra B...Gadde SGK	35937725	2022
19	Consort Allergic Contact Dermatitis: A Systematic Review. ⁶²	Lee J...Adler BL	35481821	2022
20	Age Estimation of Faces in Videos Using Head Pose Estimation and Convolutional Neural Networks. ⁶²	Zhang B...Bao Y	35684792	2022
21	Multimodal Imaging of a Severe Case of Neonatal Acute Retinal Necrosis and Lens Vacuoles Associated with Herpes Simplex Virus Infection. ⁶²	Kinoshita T...Imaizumi H	33539717	2022
22	PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation. ⁶²	Choi H...Lally D	34906036	2022
23	Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11. ⁶²	Yang J...Zhang Q	34582765	2022
24	Prediction of topological Dirac semimetal in Ca-based Zintl layered compounds CaM2X2 (M = Zn or Cd; X = N, P, As, Sb, or Bi). ⁶²	Feng LY...Chuang FC	35301355	2022
25	[Posterior polar hemispheric choroidal dystrophy: Report of a case followed for ten years]. ⁶²	Ducloux CA...Merle H	34535310	2022
26	Prevalence of Plateau Iris in Primary Angle Closure Glaucoma: An Egyptian Hospital Based Ultrasound Biomicroscopy Study. ⁶²	Hamad AE...Shalaby SM	35241909	2022
27	First reported case of pregnancy in a patient with ornithine aminotransferase deficiency. ⁶²	Kanninen T...Gonik B	34768032	2022
28	CA-XTree: Age Estimation of Grouped Gradient Regression Tree with Local Channel Attention. ⁶²	Lu X...Zhuang S	35669653	2022
29	New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates. ⁶²	Kazmierczak de Camargo JP...Beate Winter Boldt A	35656327	2022
30	Structural and functional brain alterations associated with cancer-associated cognitive decline in gastric cancer patients: A preliminary longitudinal neuroimaging study. ⁶²	Ahn J...Kim KR	34825514	2022
31	Towards Age-Invariant Face Recognition. ⁶²	Zhao J...Feng J	32750831	2022
32	Generation of a homozygous LRPAP1 knockout human embryonic stem cell line (FDCHDPe009-B) by CRISPR/Cas9 system. ⁶²	You J...Chen L	34469777	2021
33	Oliver McFarlane syndrome: two new cases and a review of the literature. ⁶²	Lisbjerg K...Kessel L	33818269	2021
34	Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy. ⁶²	Grubisa I...Milasin J	33864784	2021
35	Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene. ⁶²	Sen S...Vanniarajan A	33463379	2021
36	Anterior chamber morphology changes in eyes with narrow angles by Scheimpflug imaging: Pilocarpine versus laser peripheral iridotomy. ⁶²	Gupta R...Chauhan L	33763794	2021
37	Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA. ⁶²	Albertos-Arranz H...Cuenca N	33925984	2021
38	Efficient network selection for computer-aided cataract diagnosis under noisy environment. ⁶²	Pratap T...Kokil P	33485073	2021
39	Interactions between flocs and bubbles in the separation zone of dissolved air flotation system. ⁶²	Wang Y...Shi Y	33203555	2021
40	Learning Continuous Face Age Progression: A Pyramid of GANs. ⁶²	Yang H...Jain AK	31352335	2021
41	Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). ⁶²	Dulz S...Santer R	33107778	2021
42	Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant. ⁶²	Kellner U...Dell'Orco D	33669876	2021
43	Peripheral Anterior Chamber Depth and Angle Measurements Using Pentacam After Implantation of Toric and Non-toric Implantable Collamer Lenses. ⁶²	Zhao J...Zhou X	33585524	2021
44	Prediction of face age progression with generative adversarial networks. ⁶²	Sharma N...Jindal N	34483708	2021
45	Ocular Paraneoplastic Syndromes. ⁶²	Przezdziecka-Dolyk J...Aliev G	33182708	2020
46	Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period. ⁶²	Weisschuh N...Kohl S	32531858	2020
47	Patch test in Chinese in Shanghai with cosmetic allergy to cosmetic series and products. ⁶²	Qin O...Maibach H	31820565	2020
48	PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation. ⁶²	Coco-Martin RM...Telleria JJ	32660024	2020
49	Effects of Yoga-Based Interventions on Cancer-Associated Cognitive Decline: a Systematic Review. ⁶²	Baydoun M...Carlson LE	32725436	2020
50	Scleral pits represent degeneration around the posterior ciliary arteries and are signs of disease severity in choroideremia. ⁶²	Harvey CM...Han IC	31554944	2020

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Genes for Choroidal Dystrophy, Central Areolar, 1

Genes related to Choroidal Dystrophy, Central Areolar, 1 (5 elite genes):

(show all 33)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	1440.16	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Unconfirmed association ⁵⁷ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	22695961
2	PRPH2	Peripherin 2	Protein Coding	758.19	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	14557183
3	EYS	Eyes Shut Homolog	Protein Coding	405.73	Pathogenic ⁵ DISEASES inferred ¹⁴
4	TTLL5	Tubulin Tyrosine Ligase Like 5	Protein Coding	405.48	Pathogenic ⁵ DISEASES inferred ¹⁴
5	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	356.43	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴	28125083
6	TIMP3	TIMP Metallopeptidase Inhibitor 3	Protein Coding	12.47	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9152224
7	CYP4V2	Cytochrome P450 Family 4 Subfamily V Member 2	Protein Coding	7.9	DISEASES inferred ¹⁴
8	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	7.2	DISEASES inferred ¹⁴
9	ROM1	Retinal Outer Segment Membrane Protein 1	Protein Coding	6.6	DISEASES inferred ¹⁴
10	CRX	Cone-Rod Homeobox	Protein Coding	6.34	DISEASES inferred ¹⁴
11	CDHR1	Cadherin Related Family Member 1	Protein Coding	6.29	DISEASES inferred ¹⁴
12	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.14	DISEASES inferred ¹⁴
13	CCDC126	Coiled-Coil Domain Containing 126	Protein Coding	6.01	DISEASES inferred ¹⁴
14	USH2A	Usherin	Protein Coding	5.78	DISEASES inferred ¹⁴
15	GUCA1B	Guanylate Cyclase Activator 1B	Protein Coding	5.77	DISEASES inferred ¹⁴
16	CERKL	Ceramide Kinase Like	Protein Coding	5.73	DISEASES inferred ¹⁴
17	OR6C75	Olfactory Receptor Family 6 Subfamily C Member 75	Protein Coding	5.72	DISEASES inferred ¹⁴
18	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	5.72	DISEASES inferred ¹⁴
19	RS1	Retinoschisin 1	Protein Coding	5.7	DISEASES inferred ¹⁴
20	NR2E3	Nuclear Receptor Subfamily 2 Group E Member 3	Protein Coding	5.67	DISEASES inferred ¹⁴
21	RLBP1	Retinaldehyde Binding Protein 1	Protein Coding	5.64	DISEASES inferred ¹⁴
22	PCARE	Photoreceptor Cilium Actin Regulator	Protein Coding	5.58	DISEASES inferred ¹⁴
23	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	5.58	DISEASES inferred ¹⁴
24	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	5.57	DISEASES inferred ¹⁴
25	TOPORS	TOP1 Binding Arginine/Serine Rich Protein, E3 Ubiquitin Ligase	Protein Coding	5.51	DISEASES inferred ¹⁴
26	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	5.51	DISEASES inferred ¹⁴
27	RIMS1	Regulating Synaptic Membrane Exocytosis 1	Protein Coding	5.49	DISEASES inferred ¹⁴
28	BEST1	Bestrophin 1	Protein Coding	5.48	DISEASES inferred ¹⁴
29	TTLL10	Tubulin Tyrosine Ligase Like 10	Protein Coding	5.45	DISEASES inferred ¹⁴
30	PDE6C	Phosphodiesterase 6C	Protein Coding	5.41	DISEASES inferred ¹⁴
31	PRPF8	Pre-MRNA Processing Factor 8	Protein Coding	5.33	DISEASES inferred ¹⁴
32	RP1L1	RP1 Like 1	Protein Coding	5.3	DISEASES inferred ¹⁴
33	PRPF31	Pre-MRNA Processing Factor 31	Protein Coding	5.21	DISEASES inferred ¹⁴

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Variations for Choroidal Dystrophy, Central Areolar, 1

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

⁵ (show all 23)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PRPH2	NM_000322.5(PRPH2):c.273T>A (p.Tyr91Ter)	SNV	Pathogenic	813077	rs1761914145	GRCh37: 6:42689800-42689800 GRCh38: 6:42722062-42722062
2	GUCY2D	NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)	SNV	Pathogenic	587413	rs1006935198	GRCh37: 17:7918366-7918366 GRCh38: 17:8015048-8015048
3	TTLL5	NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter)	DUP	Pathogenic	813098	rs1400806789	GRCh37: 14:76230966-76230967 GRCh38: 14:75764623-75764624
4	GUCY2D	NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	SNV	Pathogenic	98563	rs61750168	GRCh37: 17:7917236-7917236 GRCh38: 17:8013918-8013918
5	EYS	NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)	SNV	Pathogenic	813181	rs915505702	GRCh37: 6:64574079-64574079 GRCh38: 6:63864186-63864186
6	GUCY2D	NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)	SNV	Pathogenic	638494	rs748798324	GRCh37: 17:7910841-7910841 GRCh38: 17:8007523-8007523
7	GUCY2D	NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	SNV	Likely Pathogenic	9355	rs61750172	GRCh37: 17:7918018-7918018 GRCh38: 17:8014700-8014700
8	GUCY2D	NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)	DEL	Likely Pathogenic	283615	rs552184470	GRCh37: 17:7906489-7906494 GRCh38: 17:8003171-8003176
9	PRPH2	NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)	SNV	Uncertain Significance	356777	rs767471467	GRCh37: 6:42672282-42672282 GRCh38: 6:42704544-42704544
10	PRPH2	NM_000322.5(PRPH2):c.483_484dup	DUP	Uncertain Significance	356765	rs55851577	GRCh37: 6:42665548-42665549 GRCh38: 6:42697810-42697811
11	GUCY2D	NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del)	MICROSAT	Uncertain Significance	1053812		GRCh37: 17:7906495-7906497 GRCh38: 17:8003177-8003179
12	GUCY2D	NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala)	SNV	Uncertain Significance	617917	rs1567961904	GRCh37: 17:7918674-7918674 GRCh38: 17:8015356-8015356
13	GUCY2D	NM_000180.4(GUCY2D):c.1566+3G>T	SNV	Uncertain Significance	444398	rs752607737	GRCh37: 17:7910849-7910849 GRCh38: 17:8007531-8007531
14	PRPH2	NM_000322.5(PRPH2):c.468_469del	DEL	Uncertain Significance	356767	rs886061401	GRCh37: 6:42665564-42665565 GRCh38: 6:42697826-42697827
15	PRPH2	NM_000322.4(PRPH2):c.-282G>A	SNV	Uncertain Significance	356785	rs886061408	GRCh37: 6:42690354-42690354 GRCh38: 6:42722616-42722616
16	GUCY2D	NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)	SNV	Uncertain Significance	98581	rs61750184	GRCh37: 17:7918803-7918803 GRCh38: 17:8015485-8015485
17	GUCY2D	NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg)	SNV	Uncertain Significance	374028	rs140638938	GRCh37: 17:7909969-7909969 GRCh38: 17:8006651-8006651
18	GUCY2D	NM_000180.4(GUCY2D):c.1974C>A (p.His658Gln)	SNV	Uncertain Significance	931063	rs1975872237	GRCh37: 17:7915785-7915785 GRCh38: 17:8012467-8012467
19	GUCY2D	NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala)	SNV	Uncertain Significance	931521	rs1975658549	GRCh37: 17:7906405-7906405 GRCh38: 17:8003087-8003087
20	GUCY2D	NM_000180.4(GUCY2D):c.1567-15A>T	SNV	Uncertain Significance	931936	rs1975776690	GRCh37: 17:7911234-7911234 GRCh38: 17:8007916-8007916
21	PRPH2	NM_000322.5(PRPH2):c.*484del	DEL	Likely Benign	356766	rs55851577	GRCh37: 6:42665549-42665549 GRCh38: 6:42697811-42697811
22	GUCY2D	NM_000180.4(GUCY2D):c.2576+37G>T	SNV	Benign	98572	rs12103471	GRCh37: 17:7918119-7918119 GRCh38: 17:8014801-8014801
23	GUCY2D	NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His)	SNV	Benign	255475	rs8069344	GRCh37: 17:7917279-7917279 GRCh38: 17:8013961-8013961

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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	Olfactory Signaling Pathway ⁶⁶ Show member pathways Expression and translocation of olfactory receptors ⁶⁶ Sensory Perception ⁶⁶	13.01	RPE65 OR6C75 GUCY2D GUCA1B GUCA1A CYP4V2
2	Visual phototransduction ⁶⁶ Show member pathways Activation of the phototransduction cascade ⁶⁶ Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ menaquinol-4 biosynthesis II ⁶¹ Metabolism of fat-soluble vitamins ⁶⁶ Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ retinol biosynthesis ⁶¹ The phototransduction cascade ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ the visual cycle I (vertebrates) ⁶¹ Visual signal transduction: Rods ⁶¹ Vitamin E ⁶⁶	11.97	RPE65 GUCY2D GUCA1B GUCA1A CYP4V2 ABCA4
3	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.27	RPE65 CYP4V2 ABCA4
4	Visual Cycle in Retinal Rods ⁶⁴	10.99	RPE65 GUCY2D GUCA1B GUCA1A CNGB3
5	Visual signal transduction: Cones ⁶¹	10.69	RPE65 GUCY2D CNGB3

Sources

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	cell projection	GO:0042995	9.91	USH2A TTLL5 ROM1 PRPH2 GUCY2D GUCA1B
2	photoreceptor outer segment membrane	GO:0042622	9.8	ROM1 GUCY2D CDHR1
3	photoreceptor disc membrane	GO:0097381	9.76	GUCY2D GUCA1B GUCA1A ABCA4
4	photoreceptor inner segment	GO:0001917	9.73	CERKL GUCA1A GUCA1B PRPH2 RS1 USH2A
5	cone photoreceptor outer segment	GO:0120199	9.67	GUCA1B GUCA1A
6	photoreceptor outer segment	GO:0001750	9.5	ROM1 PRPH2 GUCY2D GUCA1B GUCA1A EYS

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.93	ABCA4 CNGB3 CRX CYP4V2 EYS GUCA1A
2	photoreceptor cell maintenance	GO:0045494	9.91	USH2A CDHR1 ABCA4
3	retinoid metabolic process	GO:0001523	9.88	ABCA4 CYP4V2 RPE65
4	detection of light stimulus involved in visual perception	GO:0050908	9.86	RPE65 ROM1 PRPH2 EYS
5	positive regulation of guanylate cyclase activity	GO:0031284	9.81	GUCA1B GUCA1A
6	photoreceptor cell outer segment organization	GO:0035845	9.8	ROM1 PRPH2 CDHR1
7	protein heterooligomerization	GO:0051291	9.78	ROM1 PRPH2
8	visual perception	GO:0007601	9.78	ABCA4 CNGB3 CRX CYP4V2 EYS GUCA1A
9	receptor guanylyl cyclase signaling pathway	GO:0007168	9.76	GUCY2D GUCA1B
10	retina development in camera-type eye	GO:0060041	9.76	NR2E3 PRPH2 ROM1 RPE65 TTLL5
11	retina morphogenesis in camera-type eye	GO:0060042	9.67	RPE65 ROM1
12	regulation of guanylate cyclase activity	GO:0031282	9.54	GUCA1B GUCA1A

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	8.92	GUCA1B GUCA1A

Sources

Sources for Choroidal Dystrophy, Central Areolar, 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

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⁸ Cosmic

⁹ dbSNP

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¹¹ Disease Ontology

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¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴³ MeSH

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⁴⁷ NCBI Bookshelf

⁴⁸ NCI

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CACD1 MCID: CHR637 MIFTS: 53	Choroidal Dystrophy, Central Areolar, 1 (CACD1) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Choroidal Dystrophy, Central Areolar, 1 (CACD1)

Aliases & Classifications for Choroidal Dystrophy, Central Areolar, 1

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

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Symptoms & Phenotypes for Choroidal Dystrophy, Central Areolar, 1

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

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Cochrane evidence based reviews: choroidal sclerosis

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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