CACD3
MCID: CHR665
MIFTS: 18

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 58
Choroidal Dystrophy, Central Areolar 3 58 30 74
Choroidal Dystrophy, Central Areolar, with or Without Drusen 58
Cacd3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
choroidal dystrophy, central areolar, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613144
MedGen 43 C2751055
SNOMED-CT via HPO 70 18695008 263681008 95686007
UMLS 74 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

Description from OMIM: 613144

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 11.1

Symptoms & Phenotypes for Choroidal Dystrophy, Central Areolar, 3

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

33
# Description HPO Frequency HPO Source Accession
1 drusen 33 very rare (1%) HP:0011510
2 chorioretinal atrophy 33 HP:0000533

Symptoms via clinical synopsis from OMIM:

58
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Compare Different Cervical Anterior Discectomy Procedures by After Procedure Sagittal Alignment on Radiograph Not yet recruiting NCT03360409 Not Applicable

Search 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 30

Anatomical Context for Choroidal Dystrophy, Central Areolar, 3

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

42
Retina, Eye

Publications for Choroidal Dystrophy, Central Areolar, 3

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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