COD4
MCID: CND012
MIFTS: 28

Cone Dystrophy 4 (COD4)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone Dystrophy 4

MalaCards integrated aliases for Cone Dystrophy 4:

Name: Cone Dystrophy 4 57 74 29 13 6 72
Achromatopsia 5 74 29 6 72
Cod4 57 74
Dystrophy, Cone, Type 4 40
Achm5 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cone dystrophy 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

UMLS 72 C2751308 C2751309

Summaries for Cone Dystrophy 4

OMIM : 57 Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (COD) and complete and incomplete achromatopsia (ACHM). Impairment or death of cone photoreceptor cells is the clinical hallmark of these disorders. COD is a progressive cone disorder in which patients may initially have normal cone function but develop progressive visual acuity loss, increasing photophobia, color vision disturbances, and diminished cone responses on ERG, usually in the first or second decade of life. The visual acuity of these patients generally worsens to legal blindness before the fourth decade of life. ACHM is a stationary congenital autosomal recessive cone disorder characterized by low visual acuity, photophobia, nystagmus, and severe color vision defects. Patients with the complete ACHM subtype have no cone function on electroretinography, whereas those with incomplete ACHM show residual cone function (summary by Thiadens et al., 2009). (613093)

MalaCards based summary : Cone Dystrophy 4, also known as achromatopsia 5, is related to retinal cone dystrophy 4 and cone dystrophy, and has symptoms including photophobia An important gene associated with Cone Dystrophy 4 is PDE6C (Phosphodiesterase 6C). Affiliated tissues include retina, and related phenotypes are nystagmus and visual impairment

UniProtKB/Swiss-Prot : 74 Achromatopsia 5: A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive. Cone dystrophy 4: An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.

Related Diseases for Cone Dystrophy 4

Diseases in the Cone Dystrophy family:

Cone Dystrophy 3 Cone Dystrophy 4

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

# Related Disease Score Top Affiliating Genes
1 retinal cone dystrophy 4 33.4 LOC105369602 CACNA2D4
2 cone dystrophy 9.4 PDE6C CACNA2D4
3 cone dystrophy 3 9.4 LOC105369602 CACNA2D4

Symptoms & Phenotypes for Cone Dystrophy 4

Human phenotypes related to Cone Dystrophy 4:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 visual impairment 32 HP:0000505
3 photophobia 32 HP:0000613
4 reduced visual acuity 32 HP:0007663
5 cone/cone-rod dystrophy 32 HP:0000548
6 dyschromatopsia 32 HP:0007641

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
photophobia
decreased visual acuity
colorblindness, severe to complete
absent cone responses on electroretinography (erg)
more

Clinical features from OMIM:

613093

UMLS symptoms related to Cone Dystrophy 4:


photophobia

Drugs & Therapeutics for Cone Dystrophy 4

Search Clinical Trials , NIH Clinical Center for Cone Dystrophy 4

Genetic Tests for Cone Dystrophy 4

Genetic tests related to Cone Dystrophy 4:

# Genetic test Affiliating Genes
1 Cone Dystrophy 4 29 PDE6C
2 Achromatopsia 5 29

Anatomical Context for Cone Dystrophy 4

MalaCards organs/tissues related to Cone Dystrophy 4:

41
Retina

Publications for Cone Dystrophy 4

Articles related to Cone Dystrophy 4:

(show all 11)
# Title Authors PMID Year
1
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. 8 71
30080950 2018
2
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. 8 71
19887631 2009
3
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 8
19615668 2009
4
Cone rod dystrophies. 71
17270046 2007
5
Achromatopsia 71
20301591 2004
6
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 71
11006213 2000
7
Isolated Medicago truncatula mutants with increased calcium oxalate crystal accumulation have decreased ascorbic acid levels. 38
17400466 2007
8
The binary interacting network of the conserved oligomeric Golgi tethering complex. 38
15047703 2004
9
Screening for new yeast mutants affected in mannosylphosphorylation of cell wall mannoproteins. 38
14587103 2003
10
Identification of Sec36p, Sec37p, and Sec38p: components of yeast complex that contains Sec34p and Sec35p. 38
12006647 2002
11
Rare beta-thalassemia mutations in Asian Indians. 38
11074564 2000

Variations for Cone Dystrophy 4

ClinVar genetic disease variations for Cone Dystrophy 4:

6 (show all 19)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PDE6C NM_006204.4(PDE6C): c.1363A> G (p.Met455Val) single nucleotide variant Pathogenic rs121918539 10:95395347-95395347 10:93635590-93635590
2 PDE6C NM_006204.4(PDE6C): c.633G> C (p.Glu211Asp) single nucleotide variant Pathogenic rs387906401 10:95380541-95380541 10:93620784-93620784
3 PDE6C NM_006204.4(PDE6C): c.2368G> A (p.Glu790Lys) single nucleotide variant Pathogenic rs267606936 10:95422785-95422785 10:93663028-93663028
4 PDE6C NM_006204.4(PDE6C): c.481-12T> A single nucleotide variant Pathogenic rs786200909 10:95380377-95380377 10:93620620-93620620
5 PDE6C NM_006204.4(PDE6C): c.1483-2A> G single nucleotide variant Pathogenic rs786200910 10:95399825-95399825 10:93640068-93640068
6 PDE6C NM_006204.4(PDE6C): c.1805A> T (p.His602Leu) single nucleotide variant Pathogenic rs267606934 10:95400744-95400744 10:93640987-93640987
7 PDE6C NM_006204.4(PDE6C): c.2457T> A (p.Tyr819Ter) single nucleotide variant Pathogenic rs267606935 10:95422874-95422874 10:93663117-93663117
8 PDE6C NM_006204.4(PDE6C): c.1682dup (p.Tyr561Ter) duplication Pathogenic rs786200911 10:95400259-95400259 10:93640502-93640502
9 PDE6C NM_006204.4(PDE6C): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs267606937 10:95381791-95381791 10:93622034-93622034
10 PDE6C NM_006204.4(PDE6C): c.85C> T (p.Arg29Trp) single nucleotide variant Pathogenic rs121918537 10:95372567-95372567 10:93612810-93612810
11 PDE6C NM_006204.4(PDE6C): c.967T> A (p.Tyr323Asn) single nucleotide variant Pathogenic rs121918538 10:95386424-95386424 10:93626667-93626667
12 PDE6C NM_006204.4(PDE6C): c.254_255AG[3] (p.Leu87fs) short repeat Pathogenic rs786200908 10:95372738-95372739 10:93612981-93612982
13 PDE6C NM_006204.4(PDE6C): c.2367+1_2367+5del deletion Likely pathogenic rs796051871 10:95422401-95422405 10:93662644-93662648
14 PDE6C NM_006204.4(PDE6C): c.836T> C (p.Ile279Thr) single nucleotide variant Likely pathogenic rs762152984 10:95381801-95381801 10:93622044-93622044
15 PDE6C NM_006204.4(PDE6C): c.1589T> C (p.Phe530Ser) single nucleotide variant Likely pathogenic 10:95399933-95399933 10:93640176-93640176
16 PDE6C NM_006204.4(PDE6C): c.1958T> C (p.Leu653Pro) single nucleotide variant Likely pathogenic rs863224908 10:95415539-95415539 10:93655782-93655782
17 PDE6C NM_006204.4(PDE6C): c.252G> T (p.Leu84=) single nucleotide variant Conflicting interpretations of pathogenicity rs1131978 10:95372734-95372734 10:93612977-93612977
18 PDE6C NM_006204.4(PDE6C): c.1755G> T (p.Lys585Asn) single nucleotide variant Likely benign rs45522236 10:95400694-95400694 10:93640937-93640937
19 PDE6C NM_006204.4(PDE6C): c.2466G> A (p.Lys822=) single nucleotide variant Benign rs79487435 10:95422883-95422883 10:93663126-93663126

UniProtKB/Swiss-Prot genetic disease variations for Cone Dystrophy 4:

74
# Symbol AA change Variation ID SNP ID
1 PDE6C p.Arg29Trp VAR_062408 rs121918537
2 PDE6C p.Tyr323Asn VAR_062409 rs121918538
3 PDE6C p.Met455Val VAR_062410 rs121918539
4 PDE6C p.Arg104Trp VAR_079307 rs769506319
5 PDE6C p.Pro391Leu VAR_079309
6 PDE6C p.His602Leu VAR_079310 rs267606934
7 PDE6C p.Glu790Lys VAR_079311 rs267606936

Expression for Cone Dystrophy 4

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

Pathways for Cone Dystrophy 4

GO Terms for Cone Dystrophy 4

Sources for Cone Dystrophy 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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36 IUPHAR
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38 LifeMap
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51 NDF-RT
54 NINDS
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57 OMIM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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