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:

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:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:980
OMIM® 57 215500
OMIM Phenotypic Series 57 PS215500
ICD9CM 34 363.4
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
UMLS 71 C0339427 C0344297 C0730291 more

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.

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:



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:

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

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

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

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

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
22695961 2012
2
Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. 62 57 5
8733141 1996
3
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. 62 57
28125083 2017
4
Central areolar choroidal dystrophy. 62 57
19243827 2009
5
Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p. 62 57
9733038 1998
6
Central areolar choroidal sclerosis. 62 57
13032369 1953
7
Classification of the choroidal atrophies. 57
5315093 1971
8
[Familial angiosclerosis of the choroid]. 57
12981242 1952
9
Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. 53 62
9152224 1997
10
Detection of early bruises on loquat using hyperspectral imaging technology coupled with band ratio and improved Otsu method. 62
36007346 2022
11
Insidious progression of atrophic lesions in a case of posterior polar annular choroidal dystrophy. 62
36177298 2022
12
Early outcomes of anterior segment parameters after implantable collamer lens V4c implantation. 62
36357865 2022
13
Incidence risks for subtypes of heart diseases in a Russian cohort of Mayak Production Association nuclear workers. 62
36326926 2022
14
A Fast Circle Detection Algorithm Based on Information Compression. 62
36236365 2022
15
Long-term follow-up of PRPH2-associated retinal dystrophy. 62
36053859 2022
16
Unsupervised Multitarget Domain Adaptation With Dictionary-Bridged Knowledge Exploitation. 62
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
35856163 2022
18
Multimodal imaging in central areolar choroidal dystrophy. 62
35937725 2022
19
Consort Allergic Contact Dermatitis: A Systematic Review. 62
35481821 2022
20
Age Estimation of Faces in Videos Using Head Pose Estimation and Convolutional Neural Networks. 62
35684792 2022
21
Multimodal Imaging of a Severe Case of Neonatal Acute Retinal Necrosis and Lens Vacuoles Associated with Herpes Simplex Virus Infection. 62
33539717 2022
22
PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation. 62
34906036 2022
23
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11. 62
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
35301355 2022
25
[Posterior polar hemispheric choroidal dystrophy: Report of a case followed for ten years]. 62
34535310 2022
26
Prevalence of Plateau Iris in Primary Angle Closure Glaucoma: An Egyptian Hospital Based Ultrasound Biomicroscopy Study. 62
35241909 2022
27
First reported case of pregnancy in a patient with ornithine aminotransferase deficiency. 62
34768032 2022
28
CA-XTree: Age Estimation of Grouped Gradient Regression Tree with Local Channel Attention. 62
35669653 2022
29
New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates. 62
35656327 2022
30
Structural and functional brain alterations associated with cancer-associated cognitive decline in gastric cancer patients: A preliminary longitudinal neuroimaging study. 62
34825514 2022
31
Towards Age-Invariant Face Recognition. 62
32750831 2022
32
Generation of a homozygous LRPAP1 knockout human embryonic stem cell line (FDCHDPe009-B) by CRISPR/Cas9 system. 62
34469777 2021
33
Oliver McFarlane syndrome: two new cases and a review of the literature. 62
33818269 2021
34
Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy. 62
33864784 2021
35
Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene. 62
33463379 2021
36
Anterior chamber morphology changes in eyes with narrow angles by Scheimpflug imaging: Pilocarpine versus laser peripheral iridotomy. 62
33763794 2021
37
Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA. 62
33925984 2021
38
Efficient network selection for computer-aided cataract diagnosis under noisy environment. 62
33485073 2021
39
Interactions between flocs and bubbles in the separation zone of dissolved air flotation system. 62
33203555 2021
40
Learning Continuous Face Age Progression: A Pyramid of GANs. 62
31352335 2021
41
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). 62
33107778 2021
42
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant. 62
33669876 2021
43
Peripheral Anterior Chamber Depth and Angle Measurements Using Pentacam After Implantation of Toric and Non-toric Implantable Collamer Lenses. 62
33585524 2021
44
Prediction of face age progression with generative adversarial networks. 62
34483708 2021
45
Ocular Paraneoplastic Syndromes. 62
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
32531858 2020
47
Patch test in Chinese in Shanghai with cosmetic allergy to cosmetic series and products. 62
31820565 2020
48
PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation. 62
32660024 2020
49
Effects of Yoga-Based Interventions on Cancer-Associated Cognitive Decline: a Systematic Review. 62
32725436 2020
50
Scleral pits represent degeneration around the posterior ciliary arteries and are signs of disease severity in choroideremia. 62
31554944 2020

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

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 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 for Choroidal Dystrophy, Central Areolar, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....