CACD2
MCID: CHR449
MIFTS: 25

Choroidal Dystrophy, Central Areolar 2 (CACD2)

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

Aliases & Classifications for Choroidal Dystrophy, Central Areolar 2

MalaCards integrated aliases for Choroidal Dystrophy, Central Areolar 2:

Name: Choroidal Dystrophy, Central Areolar 2 57 72 29 6 70
Cacd2 57 72
Dystrophy, Choroidal, Areolar, Central, Type 2 39
Macular Dystrophy, Progressive 57

Characteristics:

OMIM®:

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


HPO:

31
choroidal dystrophy, central areolar 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613105
OMIM Phenotypic Series 57 PS215500
MeSH 44 D012164
MedGen 41 C2751290
UMLS 70 C2751290

Summaries for Choroidal Dystrophy, Central Areolar 2

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). For a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 (215500). (613105) (Updated 20-May-2021)

MalaCards based summary : Choroidal Dystrophy, Central Areolar 2, is also known as cacd2, and has symptoms including photophobia An important gene associated with Choroidal Dystrophy, Central Areolar 2 is PRPH2 (Peripherin 2). Affiliated tissues include eye and retina, and related phenotypes are photophobia and chorioretinal atrophy

UniProtKB/Swiss-Prot : 72 Choroidal dystrophy, central areolar 2: 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.

Related Diseases for Choroidal Dystrophy, Central Areolar 2

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

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

Symptoms & Phenotypes for Choroidal Dystrophy, Central Areolar 2

Human phenotypes related to Choroidal Dystrophy, Central Areolar 2:

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 chorioretinal atrophy 31 HP:0000533

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
photophobia
progressive loss of central vision
well-demarcated atrophy of central retina
well-demarcated atrophy of pigment epithelium
well-demarcated atrophy of choriocapillaris

Clinical features from OMIM®:

613105 (Updated 20-May-2021)

UMLS symptoms related to Choroidal Dystrophy, Central Areolar 2:


photophobia

Drugs & Therapeutics for Choroidal Dystrophy, Central Areolar 2

Search Clinical Trials , NIH Clinical Center for Choroidal Dystrophy, Central Areolar 2

Genetic Tests for Choroidal Dystrophy, Central Areolar 2

Genetic tests related to Choroidal Dystrophy, Central Areolar 2:

# Genetic test Affiliating Genes
1 Choroidal Dystrophy, Central Areolar 2 29 PRPH2

Anatomical Context for Choroidal Dystrophy, Central Areolar 2

MalaCards organs/tissues related to Choroidal Dystrophy, Central Areolar 2:

40
Eye, Retina

Publications for Choroidal Dystrophy, Central Areolar 2

Articles related to Choroidal Dystrophy, Central Areolar 2:

(show all 13)
# Title Authors PMID Year
1
Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. 57 6
14557183 2003
2
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 57
9443872 1998
3
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. 6 57
9010868 1996
4
Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. 57 6
8644804 1996
5
A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. 57 6
7493155 1995
6
Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. 6 57
8302543 1994
7
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. 57 6
8485576 1993
8
Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation. 57
19262438 2009
9
Central areolar choroidal dystrophy. 57
19243827 2009
10
Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families. 57
10532447 1999
11
A variant of central areolar choroidal dystrophy. 6
8015786 1993
12
Familial, central, areolar, choroidal atrophy of autosomal dominant inheritance. 57
13410569 1955
13
New roles for icosahedral clusters in intermetallic phases: micelle-like segregation of Ca-Cd and Cu-Cd interactions in Ca10Cd27Cu2. 61
24147875 2013

Variations for Choroidal Dystrophy, Central Areolar 2

ClinVar genetic disease variations for Choroidal Dystrophy, Central Areolar 2:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRPH2 NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) SNV Pathogenic 13167 rs61755793 GRCh37: 6:42689558-42689558
GRCh38: 6:42721820-42721820
2 PRPH2 NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) SNV Pathogenic 13170 rs61755792 GRCh37: 6:42689559-42689559
GRCh38: 6:42721821-42721821
3 PRPH2 NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) SNV Pathogenic 13182 rs121918567 GRCh37: 6:42672347-42672347
GRCh38: 6:42704609-42704609
4 PRPH2 NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) SNV Pathogenic 13183 rs61755783 GRCh37: 6:42689649-42689649
GRCh38: 6:42721911-42721911
5 PRPH2 NM_000322.5(PRPH2):c.*1000C>G SNV Uncertain significance 911537 GRCh37: 6:42665033-42665033
GRCh38: 6:42697295-42697295
6 PRPH2 NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) SNV Uncertain significance 285861 rs563581127 GRCh37: 6:42689706-42689706
GRCh38: 6:42721968-42721968
7 PRPH2 NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys) SNV Uncertain significance 909079 GRCh37: 6:42689589-42689589
GRCh38: 6:42721851-42721851
8 PRPH2 NM_000322.5(PRPH2):c.*692C>T SNV Uncertain significance 909504 GRCh37: 6:42665341-42665341
GRCh38: 6:42697603-42697603
9 PRPH2 NM_000322.5(PRPH2):c.*661G>A SNV Uncertain significance 910443 GRCh37: 6:42665372-42665372
GRCh38: 6:42697634-42697634
10 PRPH2 NM_000322.5(PRPH2):c.454A>G (p.Met152Val) SNV Uncertain significance 846922 GRCh37: 6:42689619-42689619
GRCh38: 6:42721881-42721881
11 PRPH2 NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) SNV Uncertain significance 910832 GRCh37: 6:42689699-42689699
GRCh38: 6:42721961-42721961
12 PRPH2 NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) SNV Uncertain significance 908040 GRCh37: 6:42689727-42689727
GRCh38: 6:42721989-42721989
13 PRPH2 NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) SNV Uncertain significance 98658 rs61755775 GRCh37: 6:42689824-42689824
GRCh38: 6:42722086-42722086
14 PRPH2 NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly) SNV Uncertain significance 908107 GRCh37: 6:42689906-42689906
GRCh38: 6:42722168-42722168
15 PRPH2 NM_000322.5(PRPH2):c.*1533A>G SNV Uncertain significance 908376 GRCh37: 6:42664500-42664500
GRCh38: 6:42696762-42696762
16 PRPH2 NM_000322.5(PRPH2):c.*350C>T SNV Uncertain significance 908772 GRCh37: 6:42665683-42665683
GRCh38: 6:42697945-42697945
17 PRPH2 NM_000322.5(PRPH2):c.*152G>C SNV Uncertain significance 908832 GRCh37: 6:42665881-42665881
GRCh38: 6:42698143-42698143
18 PRPH2 NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser) SNV Uncertain significance 908891 GRCh37: 6:42666050-42666050
GRCh38: 6:42698312-42698312
19 PRPH2 NM_000322.5(PRPH2):c.801C>T (p.Val267=) SNV Uncertain significance 255826 rs189358082 GRCh37: 6:42672130-42672130
GRCh38: 6:42704392-42704392
20 PRPH2 NM_000322.5(PRPH2):c.-116C>G SNV Uncertain significance 356783 rs886061406 GRCh37: 6:42690188-42690188
GRCh38: 6:42722450-42722450
21 PRPH2 NM_000322.5(PRPH2):c.*351G>A SNV Uncertain significance 356768 rs551934443 GRCh37: 6:42665682-42665682
GRCh38: 6:42697944-42697944
22 PRPH2 NM_000322.5(PRPH2):c.*743G>A SNV Uncertain significance 909503 GRCh37: 6:42665290-42665290
GRCh38: 6:42697552-42697552
23 PRPH2 NM_000322.5(PRPH2):c.*152G>A SNV Uncertain significance 909688 GRCh37: 6:42665881-42665881
GRCh38: 6:42698143-42698143
24 PRPH2 NM_000322.5(PRPH2):c.92G>T (p.Gly31Val) SNV Uncertain significance 356780 rs886061404 GRCh37: 6:42689981-42689981
GRCh38: 6:42722243-42722243
25 PRPH2 NM_000322.5(PRPH2):c.-60C>T SNV Uncertain significance 356782 rs144011444 GRCh37: 6:42690132-42690132
GRCh38: 6:42722394-42722394
26 PRPH2 NM_000322.5(PRPH2):c.*1408G>C SNV Uncertain significance 356748 rs573667549 GRCh37: 6:42664625-42664625
GRCh38: 6:42696887-42696887
27 PRPH2 NM_000322.5(PRPH2):c.-166G>A SNV Uncertain significance 356784 rs886061407 GRCh37: 6:42690238-42690238
GRCh38: 6:42722500-42722500
28 PRPH2 NM_000322.5(PRPH2):c.*917G>A SNV Uncertain significance 356758 rs185036139 GRCh37: 6:42665116-42665116
GRCh38: 6:42697378-42697378
29 PRPH2 NM_000322.5(PRPH2):c.*1580C>G SNV Uncertain significance 356744 rs886061399 GRCh37: 6:42664453-42664453
GRCh38: 6:42696715-42696715
30 PRPH2 NM_000322.5(PRPH2):c.*592A>T SNV Uncertain significance 356763 rs573416213 GRCh37: 6:42665441-42665441
GRCh38: 6:42697703-42697703
31 PRPH2 NM_000322.5(PRPH2):c.*154C>T SNV Uncertain significance 356772 rs886061403 GRCh37: 6:42665879-42665879
GRCh38: 6:42698141-42698141
32 PRPH2 NM_000322.5(PRPH2):c.*1007C>A SNV Uncertain significance 356755 rs886061400 GRCh37: 6:42665026-42665026
GRCh38: 6:42697288-42697288
33 PRPH2 NM_000322.5(PRPH2):c.-59G>A SNV Uncertain significance 356781 rs886061405 GRCh37: 6:42690131-42690131
GRCh38: 6:42722393-42722393
34 PRPH2 NM_000322.5(PRPH2):c.*1299C>T SNV Uncertain significance 356752 rs535380944 GRCh37: 6:42664734-42664734
GRCh38: 6:42696996-42696996
35 PRPH2 NM_000322.5(PRPH2):c.*213A>C SNV Uncertain significance 356770 rs886061402 GRCh37: 6:42665820-42665820
GRCh38: 6:42698082-42698082
36 PRPH2 NM_000322.5(PRPH2):c.*417A>T SNV Uncertain significance 911725 GRCh37: 6:42665616-42665616
GRCh38: 6:42697878-42697878
37 PRPH2 NM_000322.5(PRPH2):c.*626A>G SNV Uncertain significance 911661 GRCh37: 6:42665407-42665407
GRCh38: 6:42697669-42697669
38 PRPH2 NM_000322.5(PRPH2):c.852C>A (p.Arg284=) SNV Likely benign 909882 GRCh37: 6:42666222-42666222
GRCh38: 6:42698484-42698484
39 PRPH2 NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) SNV Likely benign 98653 rs61755770 GRCh37: 6:42689940-42689940
GRCh38: 6:42722202-42722202
40 PRPH2 NM_000322.5(PRPH2):c.252C>T (p.Asp84=) SNV Likely benign 356779 rs139936445 GRCh37: 6:42689821-42689821
GRCh38: 6:42722083-42722083
41 PRPH2 NM_000322.5(PRPH2):c.1008C>T (p.Gly336=) SNV Likely benign 356776 rs752365478 GRCh37: 6:42666066-42666066
GRCh38: 6:42698328-42698328
42 PRPH2 NM_000322.5(PRPH2):c.888C>T (p.Pro296=) SNV Likely benign 498453 rs183714869 GRCh37: 6:42666186-42666186
GRCh38: 6:42698448-42698448
43 PRPH2 NM_000322.5(PRPH2):c.483C>T (p.Ile161=) SNV Benign 909080 GRCh37: 6:42689590-42689590
GRCh38: 6:42721852-42721852
44 PRPH2 NM_000322.5(PRPH2):c.312C>T (p.Ile104=) SNV Benign 356778 rs200009675 GRCh37: 6:42689761-42689761
GRCh38: 6:42722023-42722023
45 PRPH2 NM_000322.5(PRPH2):c.*543G>A SNV Benign 356764 rs432753 GRCh37: 6:42665490-42665490
GRCh38: 6:42697752-42697752
46 PRPH2 NM_000322.5(PRPH2):c.909C>T (p.Ser303=) SNV Benign 778888 rs144111167 GRCh37: 6:42666165-42666165
GRCh38: 6:42698427-42698427
47 PRPH2 NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) SNV Benign 910955 GRCh37: 6:42690029-42690029
GRCh38: 6:42722291-42722291
48 PRPH2 NM_000322.5(PRPH2):c.*1372C>A SNV Benign 908443 GRCh37: 6:42664661-42664661
GRCh38: 6:42696923-42696923
49 PRPH2 NM_000322.5(PRPH2):c.*509G>A SNV Benign 910496 GRCh37: 6:42665524-42665524
GRCh38: 6:42697786-42697786
50 PRPH2 NM_000322.5(PRPH2):c.*1079G>A SNV Benign 908512 GRCh37: 6:42664954-42664954
GRCh38: 6:42697216-42697216

UniProtKB/Swiss-Prot genetic disease variations for Choroidal Dystrophy, Central Areolar 2:

72
# Symbol AA change Variation ID SNP ID
1 PRPH2 p.Arg195Leu VAR_032054 rs121918567
2 PRPH2 p.Arg123Trp VAR_075758 rs563581127
3 PRPH2 p.Pro221Leu VAR_075767

Expression for Choroidal Dystrophy, Central Areolar 2

Search GEO for disease gene expression data for Choroidal Dystrophy, Central Areolar 2.

Pathways for Choroidal Dystrophy, Central Areolar 2

GO Terms for Choroidal Dystrophy, Central Areolar 2

Sources for Choroidal Dystrophy, Central Areolar 2

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
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
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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