RCD4
MCID: RTN036
MIFTS: 29

Retinal Cone Dystrophy 4 (RCD4)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinal Cone Dystrophy 4

MalaCards integrated aliases for Retinal Cone Dystrophy 4:

Name: Retinal Cone Dystrophy 4 58 54 76 30 13 6 74
Rcd4 58 54 76
Dystrophy, Retinal Cone, Type 4 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
retinal cone dystrophy 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinal Cone Dystrophy 4

UniProtKB/Swiss-Prot : 76 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 cone dystrophy 4, 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-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include monocytes and eye, and related phenotypes are visual impairment and photophobia

Description from OMIM: 610478

Related Diseases for Retinal Cone Dystrophy 4

Diseases in the Retinal Cone Dystrophy 3a family:

Retinal Cone Dystrophy 1 Retinal Cone Dystrophy 3b
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 10.1
2 cone dystrophy 4 9.6 CACNA2D4 LOC105369602
3 cone dystrophy 3 9.5 CACNA2D4 LOC105369602

Symptoms & Phenotypes for Retinal Cone Dystrophy 4

Human phenotypes related to Retinal Cone Dystrophy 4:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 photophobia 33 HP:0000613
3 reduced visual acuity 33 HP:0007663
4 retinal pigment epithelial mottling 33 HP:0007814
5 constriction of peripheral visual field 33 HP:0001133
6 cone/cone-rod dystrophy 33 HP:0000548
7 electronegative electroretinogram 33 HP:0007984

Symptoms via clinical synopsis from OMIM:

58
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

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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zidovudine Approved Phase 2,Phase 1 30516-87-1 35370
2 Anti-Infective Agents Phase 2,Phase 1
3 Reverse Transcriptase Inhibitors Phase 2,Phase 1
4 Anti-HIV Agents Phase 2,Phase 1
5 Antimetabolites Phase 2,Phase 1
6 Antiviral Agents Phase 2,Phase 1
7 Nucleic Acid Synthesis Inhibitors Phase 2,Phase 1
8 Anti-Retroviral Agents Phase 2,Phase 1
9 HIV Antibodies Phase 1
10 Immunologic Factors Phase 1
11 Antibodies Phase 1
12 Immunoglobulins Phase 1
13 Vaccines Phase 1
14 Immunoglobulin G Phase 1
15 CD4 Immunoadhesins 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 30 CACNA2D4

Anatomical Context for Retinal Cone Dystrophy 4

MalaCards organs/tissues related to Retinal Cone Dystrophy 4:

42
Monocytes, Eye

Publications for Retinal Cone Dystrophy 4

Articles related to Retinal Cone Dystrophy 4:

# Title Authors Year
1
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans. ( 26560832 )
2016
2
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. ( 17033974 )
2006
3
Optimization of the production of full-length rCD4 in baculovirus-infected Sf9 cells. ( 18601106 )
1992
4
The safety and pharmacokinetics of recombinant soluble CD4 (rCD4) in subjects with the acquired immunodeficiency syndrome (AIDS) and AIDS-related complex. A phase 1 study. ( 2297204 )
1990
5
Effects of recombinant soluble CD4 (rCD4) on HIV-1 infection of monocyte/macrophages. ( 2295841 )
1990
6
HIV-infected cells are killed by rCD4-ricin A chain. ( 2311347 )
1990
7
HIV-infected cells are killed by rCD4-ricin A chain. ( 2847316 )
1988

Variations for Retinal Cone Dystrophy 4

ClinVar genetic disease variations for Retinal Cone Dystrophy 4:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA2D4 NM_172364.4(CACNA2D4): c.2406C> A (p.Tyr802Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71454844 GRCh37 Chromosome 12, 1953632: 1953632
2 CACNA2D4 NM_172364.4(CACNA2D4): c.2406C> A (p.Tyr802Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71454844 GRCh38 Chromosome 12, 1844466: 1844466
3 CACNA2D4 NM_172364.4(CACNA2D4): c.1882C> T (p.Arg628Ter) single nucleotide variant Uncertain significance rs200098356 GRCh37 Chromosome 12, 1969369: 1969369
4 CACNA2D4 NM_172364.4(CACNA2D4): c.1882C> T (p.Arg628Ter) single nucleotide variant Uncertain significance rs200098356 GRCh38 Chromosome 12, 1860203: 1860203
5 CACNA2D4 NM_172364.4(CACNA2D4): c.3356C> T (p.Pro1119Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145150489 GRCh37 Chromosome 12, 1902879: 1902879
6 CACNA2D4 NM_172364.4(CACNA2D4): c.3356C> T (p.Pro1119Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145150489 GRCh38 Chromosome 12, 1793713: 1793713
7 CACNA2D4 NM_172364.4(CACNA2D4): c.2095C> T (p.Leu699Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs151121191 GRCh37 Chromosome 12, 1965235: 1965235
8 CACNA2D4 NM_172364.4(CACNA2D4): c.2095C> T (p.Leu699Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs151121191 GRCh38 Chromosome 12, 1856069: 1856069
9 CACNA2D4 NM_172364.4(CACNA2D4): c.1720-74_2551+1189delinsTG indel Pathogenic GRCh37 Chromosome 12, 1948716: 1984577
10 CACNA2D4 NM_172364.4(CACNA2D4): c.1720-74_2551+1189delinsTG indel Pathogenic GRCh38 Chromosome 12, 1839550: 1875410
11 CACNA2D4 NM_172364.4(CACNA2D4): c.2891C> T (p.Ala964Val) single nucleotide variant Likely benign rs201325274 GRCh38 Chromosome 12, 1800416: 1800416
12 CACNA2D4 NM_172364.4(CACNA2D4): c.2891C> T (p.Ala964Val) single nucleotide variant Likely benign rs201325274 GRCh37 Chromosome 12, 1909582: 1909582
13 CACNA2D4 NM_172364.4(CACNA2D4): c.2516C> T (p.Ala839Val) single nucleotide variant Uncertain significance rs146752598 GRCh38 Chromosome 12, 1840774: 1840774
14 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 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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