CACD2
MCID: CHR449
MIFTS: 18

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 57 75 29 6 40 73
Cacd2 57 75
Macular Dystrophy, Progressive 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
choroidal dystrophy, central areolar 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613105
MedGen 42 C2751290
MeSH 44 D012164
UMLS 73 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)

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Choroidal Dystrophy, Central Areolar 2:

32
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 chorioretinal atrophy 32 HP:0000533

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:

41
Eye, Retina

Publications for Choroidal Dystrophy, Central Areolar 2

Variations for Choroidal Dystrophy, Central Areolar 2

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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