MCID: RTN036
MIFTS: 21

Retinal Cone Dystrophy 4

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Retinal Cone Dystrophy 4

MalaCards integrated aliases for Retinal Cone Dystrophy 4:

Name: Retinal Cone Dystrophy 4 57 53 75 29 13 6 73
Rcd4 57 53 75
Dystrophy, Retinal Cone, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
retinal cone dystrophy 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinal Cone Dystrophy 4

UniProtKB/Swiss-Prot : 75 Retinal cone dystrophy 4: Characterized by minimal symptoms except for slowly progressive reduction in visual acuity.

MalaCards based summary : Retinal Cone Dystrophy 4, also known as rcd4, is related to acquired immunodeficiency syndrome, and has symptoms including photophobia An important gene associated with Retinal Cone Dystrophy 4 is CACNA2D4 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4). The drugs Zidovudine and Anti-HIV Agents have been mentioned in the context of this disorder. Related phenotypes are visual impairment and cone/cone-rod dystrophy

Description from OMIM: 610478

Related Diseases for Retinal Cone Dystrophy 4

Diseases related to Retinal Cone Dystrophy 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acquired immunodeficiency syndrome 10.0

Symptoms & Phenotypes for Retinal Cone Dystrophy 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
decreased visual acuity (noted in the 3rd decade)
constricted visual field, mild
diminished color vision discrimination
slight mottling of the foveal pigment epithelium (in some patients)
more

Clinical features from OMIM:

610478

Human phenotypes related to Retinal Cone Dystrophy 4:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 cone/cone-rod dystrophy 32 HP:0000548
3 photophobia 32 HP:0000613
4 constriction of peripheral visual field 32 HP:0001133
5 reduced visual acuity 32 HP:0007663
6 retinal pigment epithelial mottling 32 HP:0007814
7 electronegative electroretinogram 32 HP:0007984

UMLS symptoms related to Retinal Cone Dystrophy 4:


photophobia

Drugs & Therapeutics for Retinal Cone Dystrophy 4

Drugs for Retinal Cone Dystrophy 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zidovudine Approved Phase 2,Phase 1 30516-87-1 35370
2 Anti-HIV Agents Phase 2,Phase 1
3 Anti-Infective Agents Phase 2,Phase 1
4 Antimetabolites Phase 2,Phase 1
5 Anti-Retroviral Agents Phase 2,Phase 1
6 Antiviral Agents Phase 2,Phase 1
7 Nucleic Acid Synthesis Inhibitors Phase 2,Phase 1
8 Reverse Transcriptase Inhibitors Phase 2,Phase 1
9 Antibodies Phase 1
10 HIV Antibodies Phase 1
11 Immunoglobulins Phase 1
12 CD4 Immunoadhesins Phase 1
13 Immunoglobulin G Phase 1
14 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Trial of rsCD4 and AZT in Patients With AIDS or Advanced AIDS Related Complex (ARC) Terminated NCT00000659 Phase 2 CD4 Antigens;Zidovudine
2 A Phase I Study of the Safety and Pharmacokinetics of Recombinant CD4 (rCD4) in Patients With AIDS and AIDS-Related Complex Completed NCT00002004 Phase 1 CD4 Antigens
3 An Escalating Dose Tolerance Trial of BG8962 (rCD4) in Patients Who Are HIV Antibody Positive Completed NCT00000721 Phase 1 CD4 Antigens
4 A Phase I Study of the Safety and Pharmacokinetics of Recombinant CD4 (rCD4) in Infants and Children Infected With or at Risk for HIV Infection Completed NCT00000984 Phase 1 CD4 Antigens
5 A Phase I Study of the Safety and Pharmacokinetics of Recombinant CD4 Immunoglobulin G (rCD4-IgG) in HIV-1 Seropositive Women During the Last Trimester of Pregnancy and Their Newborns Completed NCT00000642 Phase 1 CD4-IgG
6 A Phase I Study of the Safety and Pharmacokinetics of Recombinant CD4 Immunoglobulin G (rCD4-IgG) in Infants and Children With Documented HIV-1 Infection Completed NCT00000663 Phase 1 CD4-IgG
7 A Phase I Study of the Safety and Pharmacokinetics of Recombinant Human CD4 Immunoglobulin (rCd4-IgG) Administered by Intravenous Bolus in Patients With AIDS and AIDS Related Complex Completed NCT00000675 Phase 1 CD4-IgG
8 A Phase I Study of Recombinant Human CD4 Immunoglobulin G (rCD4-lgG) in Patients With HIV-Associated Immune Thrombocytopenic Purpura Completed NCT00002250 Phase 1 CD4-IgG
9 A Phase I Study of the Safety and Pharmacokinetics of Recombinant Human CD4-Immunoglobulin G (rCD4-IgG) Administered by Intravenous Bolus Injection in Combination With Oral Zidovudine in Patients With AIDS and AIDS-Related Complex Completed NCT00000976 Phase 1 CD4-IgG;Zidovudine
10 A Phase I Study of Recombinant CD4(rCD4) in Patients With AIDS and AIDS-Related Complex Completed NCT00002005 Not Applicable CD4 Antigens

Search NIH Clinical Center for Retinal Cone Dystrophy 4

Genetic Tests for Retinal Cone Dystrophy 4

Genetic tests related to Retinal Cone Dystrophy 4:

# Genetic test Affiliating Genes
1 Retinal Cone Dystrophy 4 29 CACNA2D4

Anatomical Context for Retinal Cone Dystrophy 4

Publications for Retinal Cone Dystrophy 4

Variations for Retinal Cone Dystrophy 4

ClinVar genetic disease variations for Retinal Cone Dystrophy 4:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA2D4 NM_172364.4(CACNA2D4): c.1882C> T (p.Arg628Ter) single nucleotide variant Uncertain significance rs200098356 GRCh37 Chromosome 12, 1969369: 1969369
2 CACNA2D4 NM_172364.4(CACNA2D4): c.1882C> T (p.Arg628Ter) single nucleotide variant Uncertain significance rs200098356 GRCh38 Chromosome 12, 1860203: 1860203
3 CACNA2D4 NM_172364.4(CACNA2D4): c.3356C> T (p.Pro1119Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145150489 GRCh37 Chromosome 12, 1902879: 1902879
4 CACNA2D4 NM_172364.4(CACNA2D4): c.3356C> T (p.Pro1119Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145150489 GRCh38 Chromosome 12, 1793713: 1793713
5 CACNA2D4 NM_172364.4(CACNA2D4): c.2095C> T (p.Leu699Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs151121191 GRCh37 Chromosome 12, 1965235: 1965235
6 CACNA2D4 NM_172364.4(CACNA2D4): c.2095C> T (p.Leu699Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs151121191 GRCh38 Chromosome 12, 1856069: 1856069
7 CACNA2D4 NM_172364.4(CACNA2D4): c.1720-74_2551+1189delinsTG indel Pathogenic
8 CACNA2D4 NM_172364.4(CACNA2D4): c.2891C> T (p.Ala964Val) single nucleotide variant Likely benign rs201325274 GRCh38 Chromosome 12, 1800416: 1800416
9 CACNA2D4 NM_172364.4(CACNA2D4): c.2891C> T (p.Ala964Val) single nucleotide variant Likely benign rs201325274 GRCh37 Chromosome 12, 1909582: 1909582
10 CACNA2D4 NM_172364.4(CACNA2D4): c.2516C> T (p.Ala839Val) single nucleotide variant Uncertain significance rs146752598 GRCh38 Chromosome 12, 1840774: 1840774
11 CACNA2D4 NM_172364.4(CACNA2D4): c.2516C> T (p.Ala839Val) single nucleotide variant Uncertain significance rs146752598 GRCh37 Chromosome 12, 1949940: 1949940

Expression for Retinal Cone Dystrophy 4

Search GEO for disease gene expression data for Retinal Cone Dystrophy 4.

Pathways for Retinal Cone Dystrophy 4

GO Terms for Retinal Cone Dystrophy 4

Sources for Retinal Cone Dystrophy 4

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
Content
Loading form....