MCID: CHR665
MIFTS: 17

Choroidal Dystrophy, Central Areolar, 3

Categories: Rare diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Choroidal Dystrophy, Central Areolar, 3

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

Name: Choroidal Dystrophy, Central Areolar, 3 57
Choroidal Dystrophy, Central Areolar 3 57 29 73
Choroidal Dystrophy, Central Areolar, with or Without Drusen 57
Cacd3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
choroidal dystrophy, central areolar, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613144
MedGen 42 C2751055
SNOMED-CT via HPO 69 263681008 95686007 18695008
UMLS 73 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 related phenotypes are chorioretinal atrophy and drusen

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 10.9

Symptoms & Phenotypes for Choroidal Dystrophy, Central Areolar, 3

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 chorioretinal atrophy 32 HP:0000533
2 drusen 32 very rare (1%) HP:0011510

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 29

Anatomical Context for Choroidal Dystrophy, Central Areolar, 3

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

41
Retina

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 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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