CACD1
MCID: CHR637
MIFTS: 49

Choroidal Dystrophy, Central Areolar, 1 (CACD1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Choroidal Dystrophy, Central Areolar, 1

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

Name: Choroidal Dystrophy, Central Areolar, 1 57 72
Choroidal Sclerosis 57 12 44 15 70
Choroidal Dystrophy, Central Areolar 1 57 29 13 6
Choroidal Dystrophy Central Areolar 20 54 6
Central Areolar Choroidal Dystrophy 20 58 36
Choroidal Dystrophy 72 6 70
Cacd 57 58 72
Choroidal Dystrophy, Central Areolar 57 72
Central Areolar Choroidal Sclerosis 58 70
Cacd1 57 72
Choroidal Dystrophy, Central Areolar; Cacd 57
Partial Central Choroid Dystrophy 70
Areolar Atrophy of the Macula 58
Choroidal Degenerations 12

Characteristics:

Orphanet epidemiological data:

58
central areolar choroidal dystrophy
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
choroidal dystrophy, central areolar, 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:980
OMIM® 57 215500
OMIM Phenotypic Series 57 PS215500
KEGG 36 H01768
ICD9CM 34 363.4
SNOMED-CT 67 47638000
ICD10 32 H31.1 H31.10
MESH via Orphanet 45 C535358
ICD10 via Orphanet 33 H31.2
UMLS via Orphanet 71 C1536451
Orphanet 58 ORPHA75377
UMLS 70 C0339427 C0344297 C0730291 more

Summaries for Choroidal Dystrophy, Central Areolar, 1

KEGG : 36 Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in atrophy of the retinal pigment epithelium 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. Autosomal-recessive cases that is caused by mutations in GUCY2D have been reported. However, in most cases, CACD is inherited as an autosomal-dominant trait. Autosomal-dominant CACD is genetically heterogeneous but mutations in the peripherin/RDS gene (PRPH2) seem to be the most common cause. The PRPH2 encodes a photoreceptor-specific glycoprotein. It is believed to play an important role in the assembly, orientation, and physical stability of photoreceptor outer segment disks.

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75377 Definition Central 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.

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 20-May-2021)

UniProtKB/Swiss-Prot : 72 Choroidal dystrophy, central areolar, 1: A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive.

Related Diseases for Choroidal Dystrophy, Central Areolar, 1

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

Choroidal Dystrophy, Central Areolar 2 Choroidal Dystrophy, Central Areolar, 3

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

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 choroideremia 32.3 RPE65 PRPH2 GUCY2D CYP4V2 ABCA4
2 bietti crystalline corneoretinal dystrophy 32.0 RPE65 EYS CYP4V2 ABCA4
3 cone dystrophy 3 31.7 GUCA1B GUCA1A
4 partial central choroid dystrophy 31.5 ROM1 RIMS1 PRPH2 OR6C75 GUCY2D GUCA1B
5 hereditary choroidal atrophy 31.2 ROM1 RIMS1 PRPH2 OR6C75 GUCY2D GUCA1B
6 scotoma 30.8 RPE65 GUCY2D GUCA1A EYS CYP4V2 ABCA4
7 color blindness 30.6 RPE65 GUCY2D AIPL1 ABCA4
8 cone-rod dystrophy 6 30.4 RPE65 PRPH2 GUCY2D GUCA1B GUCA1A ABCA4
9 yemenite deaf-blind hypopigmentation syndrome 30.3 RPE65 GUCY2D AIPL1 ABCA4
10 night blindness 30.1 TOPORS TIMP3 RPE65 PRPH2 GUCY2D CYP4V2
11 late-onset retinal degeneration 30.0 TIMP3 RPE65 PRPH2 CRX ABCA4
12 retinitis 29.8 TOPORS RPE65 ROM1 PRPH2 EYS CERKL
13 gyrate atrophy of choroid and retina 29.7 RS1 RPE65 ROM1 RIMS1 PRPH2 CERKL
14 macular degeneration, age-related, 1 29.7 TIMP3 RS1 RPE65 ROM1 PRPH2 GUCY2D
15 congenital stationary night blindness 29.4 RS1 RPE65 ROM1 RIMS1 PRPH2 GUCY2D
16 retinal disease 29.4 TIMP3 RS1 RPE65 ROM1 RIMS1 PRPH2
17 cone dystrophy 29.3 TTLL5 RPE65 ROM1 PRPH2 GUCY2D GUCA1B
18 retinal degeneration 29.2 TOPORS TIMP3 RS1 RPE65 ROM1 PRPH2
19 fundus dystrophy 28.7 TTLL5 TOPORS TIMP3 RS1 RPE65 ROM1
20 cone-rod dystrophy 2 28.5 TTLL5 TOPORS TIMP3 RPE65 ROM1 RIMS1
21 retinitis pigmentosa 28.2 TTLL5 TOPORS TIMP3 RS1 RPE65 ROM1
22 boucher-neuhauser syndrome 11.7
23 choroidal dystrophy, central areolar, 3 11.7
24 central gyrate choroidal dystrophy 11.2
25 gordon holmes syndrome 11.0
26 choroidal dystrophy, central areolar 2 10.9
27 macular dystrophy, concentric annular 10.4 CRX ABCA4
28 butterfly-shaped pigment dystrophy 10.4 ROM1 PRPH2
29 occult macular dystrophy 10.3 PRPH2 GUCY2D ABCA4
30 cone-rod dystrophy 8 10.3 GUCY2D AIPL1
31 leber congenital amaurosis / early-onset severe retinal dystrophy 10.3 RPE65 AIPL1
32 pattern dystrophy 10.3 ROM1 PRPH2 CRX
33 doyne honeycomb retinal dystrophy 10.3 TIMP3 PRPH2 ABCA4
34 vitreoretinochoroidopathy 10.3 RPE65 PRPH2 ABCA4
35 bestrophinopathy, autosomal recessive 10.3 RPE65 PRPH2 ABCA4
36 red-green color blindness 10.3 RPE65 ABCA4
37 cone-rod dystrophy 3 10.3 GUCY2D CRX ABCA4
38 pseudopapilledema 10.3 RPE65 GUCY2D AIPL1
39 pigmented paravenous chorioretinal atrophy 10.3 GUCY2D AIPL1 ABCA4
40 inherited retinal disorder 10.3
41 stargardt macular degeneration 10.3 RIMS1 PRPH2 ABCA4
42 leber congenital amaurosis 7 10.3 GUCY2D CRX AIPL1
43 pseudoretinitis pigmentosa 10.3 ROM1 CERKL
44 aland island eye disease 10.3 RPE65 GUCY2D ABCA4
45 retinitis pigmentosa 1 10.3 ROM1 PRPH2 CRX
46 leber congenital amaurosis 6 10.3 GUCY2D CRX AIPL1
47 retinitis pigmentosa 63 10.3 TOPORS CRX
48 cone-rod dystrophy 5 10.3 RIMS1 GUCY2D
49 macular dystrophy, dominant cystoid 10.3 RS1 RPE65 ABCA4
50 peripheral retinal degeneration 10.3 PRPH2 CERKL ABCA4

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 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperautofluorescent macular lesion 58 31 hallmark (90%) Very frequent (99-80%) HP:0030631
2 full-thickness macular hole 58 31 hallmark (90%) Very frequent (99-80%) HP:0031152
3 reduced visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007663
4 macular atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007401
5 slow decrease in visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007924
6 foveal photoreceptor outer segment loss on macular oct 58 31 frequent (33%) Frequent (79-30%) HP:0030615
7 retinal pigment epithelial mottling 58 31 occasional (7.5%) Occasional (29-5%) HP:0007814
8 absent retinal pigment epithelium 58 31 occasional (7.5%) Occasional (29-5%) HP:0007980
9 choriocapillaris atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0030491
10 drusen 58 31 occasional (7.5%) Occasional (29-5%) HP:0011510
11 perifoveal ring of hyperautofluorescence 58 31 occasional (7.5%) Occasional (29-5%) HP:0030629
12 nyctalopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000662
13 dyschromatopsia 58 31 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 visual loss 58 Frequent (79-30%)
17 chorioretinal atrophy 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.9 ABCA4 AIPL1 CRX GUCA1A GUCY2D PRPH2
2 vision/eye MP:0005391 9.5 ABCA4 AIPL1 CDHR1 CERKL CRX CYP4V2
3 pigmentation MP:0001186 9.43 ABCA4 CRX PRPH2 RPE65 RS1 TIMP3

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

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 29 GUCY2D

Anatomical Context for Choroidal Dystrophy, Central Areolar, 1

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

40
Eye, Retina

Publications for Choroidal Dystrophy, Central Areolar, 1

Articles related to Choroidal Dystrophy, Central Areolar, 1:

(show top 50) (show all 59)
# Title Authors PMID Year
1
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. 6 57
22695961 2012
2
Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. 57 6
8733141 1996
3
Central areolar choroidal sclerosis. 57 61
13032369 1953
4
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. 57
28125083 2017
5
Central areolar choroidal dystrophy. 57
19243827 2009
6
Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. 6
14557183 2003
7
Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p. 57
9733038 1998
8
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. 6
9443872 1998
9
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. 6
9010868 1996
10
Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. 6
8644804 1996
11
A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. 6
7493155 1995
12
Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. 6
8302543 1994
13
A variant of central areolar choroidal dystrophy. 6
8015786 1993
14
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. 6
8485576 1993
15
Classification of the choroidal atrophies. 57
5315093 1971
16
[Familial angiosclerosis of the choroid]. 57
12981242 1952
17
Deferoxamine-induced electronegative ERG responses. 61
29770904 2018
18
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa. 61
29411205 2018
19
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. 61
28144890 2017
20
Geographic atrophy in patients with advanced dry age-related macular degeneration: current challenges and future prospects. 61
26640366 2015
21
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. 61
25629076 2015
22
A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome. 61
25533820 2014
23
Fundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosis. 61
20224472 2010
24
Spectral OCT analysis in Bietti crystalline dystrophy. 61
20099228 2010
25
Choroidal sclerosis in localized scleroderma (morphea en plaque). 61
18223304 2008
26
Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. 61
17249554 2006
27
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. 61
15937078 2005
28
Retinitis pigmentosa inversa. 61
9734800 1998
29
Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. 54
9152224 1997
30
[Angioid streaks. Pathogenesis and the clinical picture]. 61
8833955 1995
31
Vascular concepts in glaucoma. 61
10150861 1995
32
Ocular manifestations of various systemic disorders. 61
10150822 1994
33
Evolution of angioid streaks. 61
8272342 1993
34
Focal ischaemic normal pressure glaucoma versus high pressure glaucoma. 61
2090404 1990
35
[Studies of ocular fundus and visual functions in Kearns-Sayre syndrome--with special reference to the new stage classification]. 61
2773718 1989
36
[Contribution to studies on choroidal sclerosis]. 61
3695289 1987
37
The spectrum of primary open angle glaucoma. I: Senile sclerotic glaucoma versus high tension glaucoma. 61
3587860 1987
38
Histopathologic observations in choroideremia with emphasis on vascular changes of the uveal tract. 61
3574884 1987
39
Fluorescein angiography of the choroid in health and disease. 61
6832897 1983
40
The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study. 61
7162786 1982
41
Some practical conclusions following a longitudinal study of common macular lesions. 61
6963056 1982
42
Heredity of the choroidal dystrophies. 61
343550 1978
43
Annular choroidal sclerosis. 61
952825 1976
44
Degenerative choroidal sclerosis with a peculiar bilateral pattern. 61
1147496 1975
45
Geographic atrophy of the retinal pigment epithelium. A manifestation of senile macular degeneration. 61
1111482 1975
46
X-linked choroidal sclerosis. A stage of choroideremia. 61
4827609 1974
47
Senile choroidal sclerosis. 61
4694397 1973
48
Sex-linked chorioretinal heredodegenerations. 61
4950918 1971
49
Fluorescein studies of choroidal sclerosis. 61
5100469 1971
50
[Primary choroidal sclerosis]. 61
5136981 1971

Variations for Choroidal Dystrophy, Central Areolar, 1

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

6 (show top 50) (show all 100)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRPH2 NM_000322.5(PRPH2):c.273T>A (p.Tyr91Ter) SNV Pathogenic 813077 GRCh37: 6:42689800-42689800
GRCh38: 6:42722062-42722062
2 EYS NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) SNV Pathogenic 813181 GRCh37: 6:64574079-64574079
GRCh38: 6:63864186-63864186
3 TTLL5 NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter) Duplication Pathogenic 813098 GRCh37: 14:76230966-76230967
GRCh38: 14:75764623-75764624
4 PRPH2 NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) SNV Pathogenic 13167 rs61755793 GRCh37: 6:42689558-42689558
GRCh38: 6:42721820-42721820
5 PRPH2 NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) SNV Pathogenic 13170 rs61755792 GRCh37: 6:42689559-42689559
GRCh38: 6:42721821-42721821
6 PRPH2 NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) SNV Pathogenic 13182 rs121918567 GRCh37: 6:42672347-42672347
GRCh38: 6:42704609-42704609
7 GUCY2D NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) SNV Pathogenic 98563 rs61750168 GRCh37: 17:7917236-7917236
GRCh38: 17:8013918-8013918
8 GUCY2D NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) SNV Pathogenic 638494 rs748798324 GRCh37: 17:7910841-7910841
GRCh38: 17:8007523-8007523
9 GUCY2D NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) SNV Pathogenic 587413 rs1006935198 GRCh37: 17:7918366-7918366
GRCh38: 17:8015048-8015048
10 PRPH2 NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) SNV Pathogenic 13183 rs61755783 GRCh37: 6:42689649-42689649
GRCh38: 6:42721911-42721911
11 GUCY2D NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) Deletion Likely pathogenic 283615 rs552184470 GRCh37: 17:7906489-7906494
GRCh38: 17:8003171-8003176
12 GUCY2D NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) SNV Likely pathogenic 9355 rs61750172 GRCh37: 17:7918018-7918018
GRCh38: 17:8014700-8014700
13 GUCY2D NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala) SNV Uncertain significance 617917 rs1567961904 GRCh37: 17:7918674-7918674
GRCh38: 17:8015356-8015356
14 PRPH2 NM_000322.5(PRPH2):c.*692C>T SNV Uncertain significance 909504 GRCh37: 6:42665341-42665341
GRCh38: 6:42697603-42697603
15 PRPH2 NM_000322.5(PRPH2):c.*661G>A SNV Uncertain significance 910443 GRCh37: 6:42665372-42665372
GRCh38: 6:42697634-42697634
16 PRPH2 NM_000322.5(PRPH2):c.454A>G (p.Met152Val) SNV Uncertain significance 846922 GRCh37: 6:42689619-42689619
GRCh38: 6:42721881-42721881
17 PRPH2 NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) SNV Uncertain significance 910832 GRCh37: 6:42689699-42689699
GRCh38: 6:42721961-42721961
18 PRPH2 NM_000322.5(PRPH2):c.*1000C>G SNV Uncertain significance 911537 GRCh37: 6:42665033-42665033
GRCh38: 6:42697295-42697295
19 PRPH2 NM_000322.5(PRPH2):c.*626A>G SNV Uncertain significance 911661 GRCh37: 6:42665407-42665407
GRCh38: 6:42697669-42697669
20 PRPH2 NM_000322.5(PRPH2):c.*417A>T SNV Uncertain significance 911725 GRCh37: 6:42665616-42665616
GRCh38: 6:42697878-42697878
21 PRPH2 NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) SNV Uncertain significance 285861 rs563581127 GRCh37: 6:42689706-42689706
GRCh38: 6:42721968-42721968
22 GUCY2D NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) SNV Uncertain significance 374028 rs140638938 GRCh37: 17:7909969-7909969
GRCh38: 17:8006651-8006651
23 GUCY2D NM_000180.4(GUCY2D):c.1566+3G>T SNV Uncertain significance 444398 rs752607737 GRCh37: 17:7910849-7910849
GRCh38: 17:8007531-8007531
24 GUCY2D NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) SNV Uncertain significance 98581 rs61750184 GRCh37: 17:7918803-7918803
GRCh38: 17:8015485-8015485
25 PRPH2 NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys) SNV Uncertain significance 909079 GRCh37: 6:42689589-42689589
GRCh38: 6:42721851-42721851
26 PRPH2 NM_000322.5(PRPH2):c.*743G>A SNV Uncertain significance 909503 GRCh37: 6:42665290-42665290
GRCh38: 6:42697552-42697552
27 PRPH2 NM_000322.5(PRPH2):c.*152G>A SNV Uncertain significance 909688 GRCh37: 6:42665881-42665881
GRCh38: 6:42698143-42698143
28 PRPH2 NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) SNV Uncertain significance 908040 GRCh37: 6:42689727-42689727
GRCh38: 6:42721989-42721989
29 PRPH2 NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) SNV Uncertain significance 98658 rs61755775 GRCh37: 6:42689824-42689824
GRCh38: 6:42722086-42722086
30 PRPH2 NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly) SNV Uncertain significance 908107 GRCh37: 6:42689906-42689906
GRCh38: 6:42722168-42722168
31 PRPH2 NM_000322.5(PRPH2):c.*1533A>G SNV Uncertain significance 908376 GRCh37: 6:42664500-42664500
GRCh38: 6:42696762-42696762
32 PRPH2 NM_000322.5(PRPH2):c.*350C>T SNV Uncertain significance 908772 GRCh37: 6:42665683-42665683
GRCh38: 6:42697945-42697945
33 PRPH2 NM_000322.5(PRPH2):c.*152G>C SNV Uncertain significance 908832 GRCh37: 6:42665881-42665881
GRCh38: 6:42698143-42698143
34 PRPH2 NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser) SNV Uncertain significance 908891 GRCh37: 6:42666050-42666050
GRCh38: 6:42698312-42698312
35 PRPH2 NM_000322.5(PRPH2):c.801C>T (p.Val267=) SNV Uncertain significance 255826 rs189358082 GRCh37: 6:42672130-42672130
GRCh38: 6:42704392-42704392
36 PRPH2 NM_000322.5(PRPH2):c.*468_*469del Deletion Uncertain significance 356767 rs886061401 GRCh37: 6:42665564-42665565
GRCh38: 6:42697826-42697827
37 PRPH2 NM_000322.5(PRPH2):c.-116C>G SNV Uncertain significance 356783 rs886061406 GRCh37: 6:42690188-42690188
GRCh38: 6:42722450-42722450
38 PRPH2 NM_000322.5(PRPH2):c.*213A>C SNV Uncertain significance 356770 rs886061402 GRCh37: 6:42665820-42665820
GRCh38: 6:42698082-42698082
39 PRPH2 NM_000322.5(PRPH2):c.*351G>A SNV Uncertain significance 356768 rs551934443 GRCh37: 6:42665682-42665682
GRCh38: 6:42697944-42697944
40 GUCY2D NM_000180.4(GUCY2D):c.1974C>A (p.His658Gln) SNV Uncertain significance 931063 GRCh37: 17:7915785-7915785
GRCh38: 17:8012467-8012467
41 GUCY2D NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala) SNV Uncertain significance 931521 GRCh37: 17:7906405-7906405
GRCh38: 17:8003087-8003087
42 GUCY2D NM_000180.4(GUCY2D):c.1567-15A>T SNV Uncertain significance 931936 GRCh37: 17:7911234-7911234
GRCh38: 17:8007916-8007916
43 PRPH2 NM_000322.5(PRPH2):c.-60C>T SNV Uncertain significance 356782 rs144011444 GRCh37: 6:42690132-42690132
GRCh38: 6:42722394-42722394
44 PRPH2 NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) SNV Uncertain significance 356777 rs767471467 GRCh37: 6:42672282-42672282
GRCh38: 6:42704544-42704544
45 PRPH2 NM_000322.5(PRPH2):c.*917G>A SNV Uncertain significance 356758 rs185036139 GRCh37: 6:42665116-42665116
GRCh38: 6:42697378-42697378
46 PRPH2 NM_000322.5(PRPH2):c.*1580C>G SNV Uncertain significance 356744 rs886061399 GRCh37: 6:42664453-42664453
GRCh38: 6:42696715-42696715
47 PRPH2 NM_000322.5(PRPH2):c.*592A>T SNV Uncertain significance 356763 rs573416213 GRCh37: 6:42665441-42665441
GRCh38: 6:42697703-42697703
48 PRPH2 NM_000322.5(PRPH2):c.*154C>T SNV Uncertain significance 356772 rs886061403 GRCh37: 6:42665879-42665879
GRCh38: 6:42698141-42698141
49 PRPH2 NM_000322.5(PRPH2):c.*1007C>A SNV Uncertain significance 356755 rs886061400 GRCh37: 6:42665026-42665026
GRCh38: 6:42697288-42697288
50 PRPH2 NM_000322.5(PRPH2):c.*1408G>C SNV Uncertain significance 356748 rs573667549 GRCh37: 6:42664625-42664625
GRCh38: 6:42696887-42696887

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 9.92 TTLL5 ROM1 RIMS1 PRPH2 GUCY2D GUCA1B
2 photoreceptor disc membrane GO:0097381 9.46 GUCY2D GUCA1B GUCA1A ABCA4
3 photoreceptor outer segment membrane GO:0042622 9.43 ROM1 GUCY2D CDHR1
4 photoreceptor inner segment GO:0001917 9.43 RS1 PRPH2 GUCA1B GUCA1A CERKL AIPL1
5 photoreceptor outer segment GO:0001750 9.23 ROM1 PRPH2 GUCY2D GUCA1B GUCA1A EYS

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.8 TIMP3 RS1 RPE65 ROM1 RIMS1 PRPH2
2 protein homooligomerization GO:0051260 9.7 RS1 ROM1 PRPH2
3 retina development in camera-type eye GO:0060041 9.67 TTLL5 RPE65 ROM1 PRPH2
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.62 GUCY2D GUCA1B GUCA1A AIPL1
5 retinoid metabolic process GO:0001523 9.58 RPE65 CYP4V2 ABCA4
6 detection of light stimulus involved in visual perception GO:0050908 9.56 RPE65 ROM1 PRPH2 EYS
7 retina layer formation GO:0010842 9.54 TOPORS RS1
8 retina morphogenesis in camera-type eye GO:0060042 9.51 RPE65 ROM1
9 response to stimulus GO:0050896 9.5 TIMP3 RS1 RPE65 ROM1 RIMS1 PRPH2
10 positive regulation of guanylate cyclase activity GO:0031284 9.49 GUCA1B GUCA1A
11 receptor guanylyl cyclase signaling pathway GO:0007168 9.48 GUCY2D GUCA1B
12 protein heterooligomerization GO:0051291 9.46 ROM1 PRPH2
13 photoreceptor cell outer segment organization GO:0035845 9.46 TOPORS ROM1 PRPH2 CDHR1
14 phototransduction, visible light GO:0007603 9.43 AIPL1 ABCA4

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 8.62 GUCA1B GUCA1A

Sources for Choroidal Dystrophy, Central Areolar, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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44 MeSH
45 MESH via Orphanet
46 MGI
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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