RCD4
MCID: RTN036
MIFTS: 32

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 56 52 73 29 13 6 71
Rcd4 56 52 73
Dystrophy, Retinal Cone, Type 4 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
retinal cone dystrophy 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 610478
MedGen 41 C1864849
UMLS 71 C1864849

Summaries for Retinal Cone Dystrophy 4

UniProtKB/Swiss-Prot : 73 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 human immunodeficiency virus type 1 and human immunodeficiency virus infectious disease, 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 Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include t cells, monocytes and brain, and related phenotypes are visual impairment and photophobia

More information 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 human immunodeficiency virus type 1 10.2
2 human immunodeficiency virus infectious disease 10.2
3 acquired immunodeficiency syndrome 10.2

Symptoms & Phenotypes for Retinal Cone Dystrophy 4

Human phenotypes related to Retinal Cone Dystrophy 4:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 photophobia 31 HP:0000613
3 reduced visual acuity 31 HP:0007663
4 retinal pigment epithelial mottling 31 HP:0007814
5 constriction of peripheral visual field 31 HP:0001133
6 cone/cone-rod dystrophy 31 HP:0000548
7 electronegative electroretinogram 31 HP:0007984

Symptoms via clinical synopsis from OMIM:

56
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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zidovudine Approved Phase 2 30516-87-1 35370
2 Antiviral Agents Phase 2
3 Anti-Infective Agents Phase 2
4 Anti-Retroviral Agents Phase 2
5 Reverse Transcriptase Inhibitors Phase 2
6 Antimetabolites Phase 2
7 Anti-HIV Agents Phase 2
8 Immunoglobulin G Phase 1
9 Vaccines Phase 1
10 Immunoglobulins Phase 1
11 CD4 Immunoadhesins Phase 1
12 Antibodies Phase 1
13 Immunologic Factors Phase 1
14 HIV Antibodies Phase 1

Interventional clinical trials:

(show all 11)
# 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 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
4 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
5 An Escalating Dose Tolerance Trial of BG8962 (rCD4) in Patients Who Are HIV Antibody Positive Completed NCT00000721 Phase 1 CD4 Antigens
6 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
7 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
8 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
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 Phase I/II Trial of CD4-IgG2 in HIV-Infected Children Completed NCT00000876 Phase 1 CD4-IgG2
11 A Phase I Study of Recombinant CD4(rCD4) in Patients With AIDS and AIDS-Related Complex Completed NCT00002005 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

MalaCards organs/tissues related to Retinal Cone Dystrophy 4:

40
T Cells, Monocytes, Brain, Ovary, Placenta, B Cells, Eye

Publications for Retinal Cone Dystrophy 4

Articles related to Retinal Cone Dystrophy 4:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans. 56 6
26560832 2016
2
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. 56 6
17033974 2006
3
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 56
25356976 2015
4
Measuring the contribution of γδ T cells to the persistent HIV reservoir. 61
31764074 2020
5
TZA, a Sensitive Reporter Cell-based Assay to Accurately and Rapidly Quantify Inducible, Replication-competent Latent HIV-1 from Resting CD4+ T Cells. 61
31428662 2019
6
HCV-coinfection is related to an increased HIV-1 reservoir size in cART-treated HIV patients: a cross-sectional study. 61
30944340 2019
7
The Pathway To Establishing HIV Latency Is Critical to How Latency Is Maintained and Reversed. 61
29643247 2018
8
Reduced Frequency of Cells Latently Infected With Replication-Competent Human Immunodeficiency Virus-1 in Virally Suppressed Individuals Living in Rakai, Uganda. 61
28535179 2017
9
The CCR5-antagonist Maraviroc reverses HIV-1 latency in vitro alone or in combination with the PKC-agonist Bryostatin-1. 61
28539614 2017
10
Novel retinopathy in related Gordon setters: a clinical, behavioral, electrophysiological, and genetic investigation. 61
26417729 2016
11
Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study. 61
26009980 2016
12
Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. 61
24255994 2014
13
Slow turnover of HIV-1 receptors on quiescent CD4+ T cells causes prolonged surface retention of gp120 immune complexes in vivo. 61
24516533 2014
14
Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. 61
22686255 2013
15
Major CD4 epitopes involved in anti-CD4 T-cell autoimmunity in HIV-1 patients. 61
17298856 2007
16
T-cell vaccination against anti-CD4 autoimmunity in HIV-1 subtypes B and C-infected patients--an extended open trial. 61
15755585 2005
17
T-cell vaccination against anti-CD4 autoimmunity in HIV-1 infected patients. 61
15567094 2004
18
Technology evaluation: PRO-542, Progenics Pharmaceuticals inc. 61
11249748 2000
19
Direct evidence for native CD4 oligomers in lymphoid and monocytoid cells. 61
10458774 1999
20
DNA-based immunization induces anti-CD4 antibodies directed primarily to native epitopes. 61
9143878 1997
21
Human CD4-reactive antibodies from SLE patients induce reversible inhibition of polyclonal T lymphocyte proliferation. 61
8872165 1996
22
Human CD4-internal antigen anti-idiotypic monoclonal antibody: induction of a CD4-specific response in humans. 61
8617987 1996
23
Analysis of recombinant and native CD4 by one- and two-dimensional gel electrophoresis. 61
8907546 1996
24
Human recombinant CD4 and CD4-derived synthetic peptides agglutinate immunoglobulin-coated latex particles. Evidence that residues 25-28 and 35-38 of human CD4 form two separate immunoglobulin binding sites. 61
8643109 1995
25
Transport of recombinant human CD4-immunoglobulin G across the human placenta: pharmacokinetics and safety in six mother-infant pairs in AIDS clinical trial group protocol 146. 61
7664172 1995
26
Developmental and tissue-specific expression of human CD4 in transgenic rabbits. 61
7598907 1995
27
Combination therapy with recombinant human soluble CD4-immunoglobulin G and zidovudine in patients with HIV infection: a phase I study. 61
7834398 1995
28
Synergistic effect of recombinant CD4-immunoglobulin in combination with azidothymidine, dideoxyinosine and 0.5 beta-monoclonal antibody on human immunodeficiency virus infection in vitro. 61
7765215 1994
29
Nonaffinity purification of recombinant gp120 for use in AIDS vaccine development. 61
8142140 1993
30
Effect of a recombinant CD4-IgG on in vitro T helper cell function: data from a phase I/II study of patients with AIDS. 61
8376811 1993
31
Complementarities and network interactions in AIDS. 61
8240663 1993
32
Induction of IFN-alpha by HIV-1 in monocyte-enriched PBMC requires gp120-CD4 interaction but not virus replication. 61
8345204 1993
33
Recombinant human CD4 elicits antibody responses different in epitope specificity from those that cellular CD4 elicits. 61
7684821 1993
34
Human megakaryocytes have a CD4 molecule capable of binding human immunodeficiency virus-1. 61
8490176 1993
35
Sulfated polyester interactions with the CD4 molecule and with the third variable loop domain (v3) of gp120 are chemically distinct. 61
1457206 1992
36
Production of human monoclonal antibodies specific for conformational and linear non-V3 epitopes of gp120. 61
1380257 1992
37
Transport of recombinant CD4 through the rat blood-brain barrier in vivo. 61
1602382 1992
38
Optimization of the production of full-length rCD4 in baculovirus-infected Sf9 cells. 61
18601106 1992
39
Interference of recombinant soluble CD4 immunoglobulin G in flow cytometric measurement of CD4+ lymphocytes. 61
1546684 1992
40
Internal-image anti-idiotype HIV-1gp120 antibody in human immunodeficiency virus 1 (HIV-1)-seropositive individuals with thrombocytopenia. 61
1741404 1992
41
Autoantibodies in HIV-infected hemophilia patients against different epitopes on CD4+ lymphocytes and recombinant CD4. 61
1374580 1992
42
Phase 1 study of recombinant human CD4-immunoglobulin G therapy of patients with AIDS and AIDS-related complex. 61
1810192 1991
43
Purified recombinant CD4 inhibits HIV-1 infection of peripheral blood macrophages. 61
1762833 1991
44
Recombinant CD4-selected human immunodeficiency virus type 1 variants with reduced gp120 affinity for CD4 and increased cell fusion capacity. 61
1870202 1991
45
CD4 peptide-protein conjugates, but not recombinant human CD4, bind to recombinant gp120 from the human immunodeficiency virus in the presence of serum from AIDS patients. 61
2062847 1991
46
An IgG human monoclonal antibody that reacts with HIV-1/GP120, inhibits virus binding to cells, and neutralizes infection. 61
1710248 1991
47
Deamidation of soluble CD4 at asparagine-52 results in reduced binding capacity for the HIV-1 envelope glycoprotein gp120. 61
2018763 1991
48
Carbohydrate structures of recombinant soluble human CD4 expressed in Chinese hamster ovary cells. 61
2001369 1991
49
Binding of recombinant HIV coat protein gp120 to human monocytes. 61
1991970 1991
50
Characterization of autoantibodies to the CD4 molecule in human immunodeficiency virus infection. 61
1983967 1991

Variations for Retinal Cone Dystrophy 4

ClinVar genetic disease variations for Retinal Cone Dystrophy 4:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA2D4 NM_172364.4(CACNA2D4):c.1720-74_2551+1189delinsTGindel Pathogenic 375308 12:1948716-1984577 12:1839550-1875410
2 CACNA2D4 NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter)SNV Conflicting interpretations of pathogenicity 2504 rs71454844 12:1953632-1953632 12:1844466-1844466
3 CACNA2D4 NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu)SNV Conflicting interpretations of pathogenicity 307830 rs145150489 12:1902879-1902879 12:1793713-1793713
4 CACNA2D4 NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe)SNV Conflicting interpretations of pathogenicity 307854 rs151121191 12:1965235-1965235 12:1856069-1856069
5 CACNA2D4 NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val)SNV Conflicting interpretations of pathogenicity 522361 rs146752598 12:1949940-1949940 12:1840774-1840774
6 CACNA2D4 NM_172364.5(CACNA2D4):c.3045C>A (p.Tyr1015Ter)SNV Uncertain significance 631670 rs1178449456 12:1906652-1906652 12:1797486-1797486
7 CACNA2D4 NM_172364.5(CACNA2D4):c.1407C>G (p.Tyr469Ter)SNV Uncertain significance 631672 rs771184759 12:1992111-1992111 12:1882945-1882945
8 CACNA2D4 NM_172364.5(CACNA2D4):c.1276C>T (p.Arg426Ter)SNV Uncertain significance 631673 rs764495319 12:1993484-1993484 12:1884318-1884318
9 CACNA2D4 NM_172364.5(CACNA2D4):c.2974+1G>TSNV Uncertain significance 631671 rs1030373953 12:1909165-1909165 12:1799999-1799999
10 CACNA2D4 NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter)SNV Uncertain significance 208566 rs200098356 12:1969369-1969369 12:1860203-1860203
11 CACNA2D4 NM_172364.5(CACNA2D4):c.2891C>T (p.Ala964Val)SNV Likely benign 522360 rs201325274 12:1909582-1909582 12:1800416-1800416

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
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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