COD4
MCID: CND012
MIFTS: 30

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 56 73 29 13 6 71
Achromatopsia 5 73 29 6 71
Cod4 56 73
Dystrophy, Cone, Type 4 39
Achm5 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cone dystrophy 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 613093
OMIM Phenotypic Series 56 PS120970
UMLS 71 C2751308 C2751309

Summaries for Cone Dystrophy 4

UniProtKB/Swiss-Prot : 73 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.

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

OMIM : 56 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)

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 12.7
2 aspergillosis 10.2
3 invasive aspergillosis 10.2
4 cone dystrophy 9.6 PDE6C CACNA2D4
5 cone-rod dystrophy 6 9.5 PDE6C CACNA2D4
6 achromatopsia 9.5 PDE6C CACNA2D4
7 congenital stationary night blindness 9.4 PDE6C CACNA2D4
8 fundus dystrophy 9.2 PDE6C CACNA2D4

Graphical network of the top 20 diseases related to Cone Dystrophy 4:



Diseases related to Cone Dystrophy 4

Symptoms & Phenotypes for Cone Dystrophy 4

Human phenotypes related to Cone Dystrophy 4:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 visual impairment 31 HP:0000505
3 photophobia 31 HP:0000613
4 reduced visual acuity 31 HP:0007663
5 cone/cone-rod dystrophy 31 HP:0000548
6 dyschromatopsia 31 HP:0007641

Symptoms via clinical synopsis from OMIM:

56
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:

40
Retina, Eye

Publications for Cone Dystrophy 4

Articles related to Cone Dystrophy 4:

(show all 12)
# Title Authors PMID Year
1
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. 56 6
30080950 2018
2
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. 56 6
19887631 2009
3
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 56
19615668 2009
4
Cone rod dystrophies. 6
17270046 2007
5
Achromatopsia 6
20301591 2004
6
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
7
Chitin deacetylases Cod4 and Cod7 are involved in polar growth of Aspergillus fumigatus. 61
31602821 2020
8
Isolated Medicago truncatula mutants with increased calcium oxalate crystal accumulation have decreased ascorbic acid levels. 61
17400466 2007
9
The binary interacting network of the conserved oligomeric Golgi tethering complex. 61
15047703 2004
10
Screening for new yeast mutants affected in mannosylphosphorylation of cell wall mannoproteins. 61
14587103 2003
11
Identification of Sec36p, Sec37p, and Sec38p: components of yeast complex that contains Sec34p and Sec35p. 61
12006647 2002
12
Rare beta-thalassemia mutations in Asian Indians. 61
11074564 2000

Variations for Cone Dystrophy 4

ClinVar genetic disease variations for Cone Dystrophy 4:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDE6C NM_006204.4(PDE6C):c.1363A>G (p.Met455Val)SNV Pathogenic 8767 rs121918539 10:95395347-95395347 10:93635590-93635590
2 PDE6C NM_006204.4(PDE6C):c.633G>C (p.Glu211Asp)SNV Pathogenic 8768 rs387906401 10:95380541-95380541 10:93620784-93620784
3 PDE6C NM_006204.4(PDE6C):c.2368G>A (p.Glu790Lys)SNV Pathogenic 8769 rs267606936 10:95422785-95422785 10:93663028-93663028
4 PDE6C NM_006204.4(PDE6C):c.481-12T>ASNV Pathogenic 8770 rs786200909 10:95380377-95380377 10:93620620-93620620
5 PDE6C NM_006204.4(PDE6C):c.1483-2A>GSNV Pathogenic 8771 rs786200910 10:95399825-95399825 10:93640068-93640068
6 PDE6C NM_006204.4(PDE6C):c.1805A>T (p.His602Leu)SNV Pathogenic 8772 rs267606934 10:95400744-95400744 10:93640987-93640987
7 PDE6C NM_006204.4(PDE6C):c.826C>T (p.Arg276Ter)SNV Pathogenic 8773 rs267606937 10:95381791-95381791 10:93622034-93622034
8 PDE6C NM_006204.4(PDE6C):c.2457T>A (p.Tyr819Ter)SNV Pathogenic 8774 rs267606935 10:95422874-95422874 10:93663117-93663117
9 PDE6C NM_006204.4(PDE6C):c.1682dup (p.Tyr561Ter)duplication Pathogenic 8775 rs786200911 10:95400258-95400259 10:93640501-93640502
10 PDE6C NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp)SNV Pathogenic 8763 rs121918537 10:95372567-95372567 10:93612810-93612810
11 PDE6C NM_006204.4(PDE6C):c.967T>A (p.Tyr323Asn)SNV Pathogenic 8764 rs121918538 10:95386424-95386424 10:93626667-93626667
12 PDE6C NM_006204.4(PDE6C):c.254_255AG[3] (p.Leu87fs)short repeat Pathogenic 8765 rs786200908 10:95372735-95372736 10:93612978-93612979
13 PDE6C NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter)SNV Pathogenic 802622 10:95418908-95418908 10:93659151-93659151
14 PDE6C NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser)SNV Likely pathogenic 599170 rs1564801134 10:95399933-95399933 10:93640176-93640176
15 PDE6C NM_006204.4(PDE6C):c.2367+1_2367+5deldeletion Likely pathogenic 8766 rs796051871 10:95422397-95422401 10:93662640-93662644
16 PDE6C NM_006204.4(PDE6C):c.1958T>C (p.Leu653Pro)SNV Likely pathogenic 216982 rs863224908 10:95415539-95415539 10:93655782-93655782
17 PDE6C NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr)SNV Likely pathogenic 487697 rs762152984 10:95381801-95381801 10:93622044-93622044
18 PDE6C NM_006204.4(PDE6C):c.252G>T (p.Leu84=)SNV Conflicting interpretations of pathogenicity 301617 rs1131978 10:95372734-95372734 10:93612977-93612977
19 PDE6C NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn)SNV Benign/Likely benign 522317 rs45522236 10:95400694-95400694 10:93640937-93640937
20 PDE6C NM_006204.4(PDE6C):c.2466G>A (p.Lys822=)SNV Benign 522318 rs79487435 10:95422883-95422883 10:93663126-93663126
21 PDE6C NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr)SNV Benign 259947 rs701865 10:95381773-95381773 10:93622016-93622016

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

73
# 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 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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