CACD3
MCID: CHR665
MIFTS: 17

Choroidal Dystrophy, Central Areolar, 3 (CACD3)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Choroidal Dystrophy, Central Areolar, 3

MalaCards integrated aliases for Choroidal Dystrophy, Central Areolar, 3:

Name: Choroidal Dystrophy, Central Areolar, 3 56
Choroidal Dystrophy, Central Areolar 3 56 29 71
Choroidal Dystrophy, Central Areolar, with or Without Drusen 56
Cacd3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
choroidal dystrophy, central areolar, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 613144
OMIM Phenotypic Series 56 PS215500
MedGen 41 C2751055
SNOMED-CT via HPO 68 18695008 263681008 95686007
UMLS 71 C2751055

Summaries for Choroidal Dystrophy, Central Areolar, 3

MalaCards based summary : Choroidal Dystrophy, Central Areolar, 3, also known as choroidal dystrophy, central areolar 3, is related to choroidal dystrophy, central areolar, 1. An important gene associated with Choroidal Dystrophy, Central Areolar, 3 is CACD3 (Choroidal Dystrophy, Central Areolar 3). Affiliated tissues include retina and eye, and related phenotypes are drusen and chorioretinal atrophy

More information from OMIM: 613144 PS215500

Related Diseases for Choroidal Dystrophy, Central Areolar, 3

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, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 choroidal dystrophy, central areolar, 1 11.3

Symptoms & Phenotypes for Choroidal Dystrophy, Central Areolar, 3

Human phenotypes related to Choroidal Dystrophy, Central Areolar, 3:

31
# Description HPO Frequency HPO Source Accession
1 drusen 31 very rare (1%) HP:0011510
2 chorioretinal atrophy 31 HP:0000533

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
progressive loss of central vision
well-demarcated atrophy of central retina
well-demarcated atrophy of pigment epithelium
well-demarcated atrophy of choriocapillaris
drusen (in some patients)

Clinical features from OMIM:

613144

Drugs & Therapeutics for Choroidal Dystrophy, Central Areolar, 3

Search Clinical Trials , NIH Clinical Center for Choroidal Dystrophy, Central Areolar, 3

Genetic Tests for Choroidal Dystrophy, Central Areolar, 3

Genetic tests related to Choroidal Dystrophy, Central Areolar, 3:

# Genetic test Affiliating Genes
1 Choroidal Dystrophy, Central Areolar 3 29

Anatomical Context for Choroidal Dystrophy, Central Areolar, 3

MalaCards organs/tissues related to Choroidal Dystrophy, Central Areolar, 3:

40
Retina, Eye

Publications for Choroidal Dystrophy, Central Areolar, 3

Articles related to Choroidal Dystrophy, Central Areolar, 3:

# Title Authors PMID Year
1
Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus. 56
19696794 2009
2
Antagonistic and agonistic anti-canine CD28 monoclonal antibodies: tools for allogeneic transplantation. 61
21343872 2011

Variations for Choroidal Dystrophy, Central Areolar, 3

Expression for Choroidal Dystrophy, Central Areolar, 3

Search GEO for disease gene expression data for Choroidal Dystrophy, Central Areolar, 3.

Pathways for Choroidal Dystrophy, Central Areolar, 3

GO Terms for Choroidal Dystrophy, Central Areolar, 3

Sources for Choroidal Dystrophy, Central Areolar, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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