CACD2
MCID: CHR449
MIFTS: 21

Choroidal Dystrophy, Central Areolar 2 (CACD2)

Categories: Eye diseases, Genetic 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 58 76 30 6 41 74
Cacd2 58 76
Macular Dystrophy, Progressive 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
choroidal dystrophy, central areolar 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613105
MeSH 45 D012164
MedGen 43 C2751290
UMLS 74 C2751290

Summaries for Choroidal Dystrophy, Central Areolar 2

OMIM : 58 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)

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 retina and eye, and related phenotypes are photophobia and chorioretinal atrophy

UniProtKB/Swiss-Prot : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 photophobia 33 HP:0000613
2 chorioretinal atrophy 33 HP:0000533

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PRPH2

Anatomical Context for Choroidal Dystrophy, Central Areolar 2

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

42
Retina, Eye

Publications for Choroidal Dystrophy, Central Areolar 2

Articles related to Choroidal Dystrophy, Central Areolar 2:

# Title Authors Year
1
Central areolar choroidal dystrophy. ( 19243827 )
2009
2
Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. ( 14557183 )
2003
3
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. ( 9443872 )
1998
4
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. ( 9010868 )
1996
5
Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. ( 8644804 )
1996
6
A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. ( 7493155 )
1995
7
Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. ( 8302543 )
1994
8
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. ( 8485576 )
1993
9
A variant of central areolar choroidal dystrophy. ( 8015786 )
1993

Variations for Choroidal Dystrophy, Central Areolar 2

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

76
# Symbol AA change Variation ID SNP ID
1 PRPH2 p.Arg195Leu VAR_032054 rs121918567
2 PRPH2 p.Arg123Trp VAR_075758
3 PRPH2 p.Pro221Leu VAR_075767

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPH2 NM_000322.4(PRPH2): c.515G> A (p.Arg172Gln) single nucleotide variant Pathogenic rs61755793 GRCh37 Chromosome 6, 42689558: 42689558
2 PRPH2 NM_000322.4(PRPH2): c.515G> A (p.Arg172Gln) single nucleotide variant Pathogenic rs61755793 GRCh38 Chromosome 6, 42721820: 42721820
3 PRPH2 NM_000322.4(PRPH2): c.514C> T (p.Arg172Trp) single nucleotide variant Pathogenic rs61755792 GRCh37 Chromosome 6, 42689559: 42689559
4 PRPH2 NM_000322.4(PRPH2): c.514C> T (p.Arg172Trp) single nucleotide variant Pathogenic rs61755792 GRCh38 Chromosome 6, 42721821: 42721821
5 PRPH2 NM_000322.4(PRPH2): c.584G> T (p.Arg195Leu) single nucleotide variant Pathogenic rs121918567 GRCh37 Chromosome 6, 42672347: 42672347
6 PRPH2 NM_000322.4(PRPH2): c.584G> T (p.Arg195Leu) single nucleotide variant Pathogenic rs121918567 GRCh38 Chromosome 6, 42704609: 42704609
7 PRPH2 NM_000322.4(PRPH2): c.424C> T (p.Arg142Trp) single nucleotide variant Pathogenic rs61755783 GRCh37 Chromosome 6, 42689649: 42689649
8 PRPH2 NM_000322.4(PRPH2): c.424C> T (p.Arg142Trp) single nucleotide variant Pathogenic rs61755783 GRCh38 Chromosome 6, 42721911: 42721911

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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