Aliases & Classifications for Cone Dystrophy 4

MalaCards integrated aliases for Cone Dystrophy 4:

Name: Cone Dystrophy 4 57 75 29 13 6 73
Achromatopsia 5 75 29 6 73
Cod4 57 75
Dystrophy, Cone, Type 4 40
Achm5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cone dystrophy 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone Dystrophy 4

UniProtKB/Swiss-Prot : 75 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 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 visual impairment and cone/cone-rod dystrophy

Description from OMIM: 613093

Related Diseases for 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 12.4
2 cone dystrophy 9.0 CACNA2D4 PDE6C

Symptoms & Phenotypes for Cone Dystrophy 4

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

613093

Human phenotypes related to Cone Dystrophy 4:

32 (show all 6)
# 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 nystagmus 32 HP:0000639
5 dyschromatopsia 32 HP:0007641
6 reduced visual acuity 32 HP:0007663

UMLS symptoms related to Cone Dystrophy 4:


photophobia

MGI Mouse Phenotypes related to Cone Dystrophy 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 CACNA2D4 PDE6C

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

Variations for Cone Dystrophy 4

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

75
# 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

ClinVar genetic disease variations for Cone Dystrophy 4:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE6C NM_006204.3(PDE6C): c.1363A> G (p.Met455Val) single nucleotide variant Pathogenic rs121918539 GRCh37 Chromosome 10, 95395347: 95395347
2 PDE6C NM_006204.3(PDE6C): c.2367+1_2367+5delGTAAG deletion Pathogenic rs796051871 GRCh38 Chromosome 10, 93662644: 93662648
3 PDE6C NM_006204.3(PDE6C): c.85C> T (p.Arg29Trp) single nucleotide variant Pathogenic rs121918537 GRCh37 Chromosome 10, 95372567: 95372567
4 PDE6C NM_006204.3(PDE6C): c.85C> T (p.Arg29Trp) single nucleotide variant Pathogenic rs121918537 GRCh38 Chromosome 10, 93612810: 93612810
5 PDE6C NM_006204.3(PDE6C): c.967T> A (p.Tyr323Asn) single nucleotide variant Pathogenic rs121918538 GRCh37 Chromosome 10, 95386424: 95386424
6 PDE6C NM_006204.3(PDE6C): c.967T> A (p.Tyr323Asn) single nucleotide variant Pathogenic rs121918538 GRCh38 Chromosome 10, 93626667: 93626667
7 PDE6C NM_006204.3(PDE6C): c.256_257dupAG (p.Leu87Glyfs) duplication Pathogenic rs786200908 GRCh38 Chromosome 10, 93612981: 93612982
8 PDE6C NM_006204.3(PDE6C): c.256_257dupAG (p.Leu87Glyfs) duplication Pathogenic rs786200908 GRCh37 Chromosome 10, 95372738: 95372739
9 PDE6C NM_006204.3(PDE6C): c.2367+1_2367+5delGTAAG deletion Pathogenic rs796051871 GRCh37 Chromosome 10, 95422401: 95422405
10 PDE6C NM_006204.3(PDE6C): c.1363A> G (p.Met455Val) single nucleotide variant Pathogenic rs121918539 GRCh38 Chromosome 10, 93635590: 93635590
11 PDE6C NM_006204.3(PDE6C): c.633G> C (p.Glu211Asp) single nucleotide variant Pathogenic rs387906401 GRCh37 Chromosome 10, 95380541: 95380541
12 PDE6C NM_006204.3(PDE6C): c.633G> C (p.Glu211Asp) single nucleotide variant Pathogenic rs387906401 GRCh38 Chromosome 10, 93620784: 93620784
13 PDE6C NM_006204.3(PDE6C): c.2368G> A (p.Glu790Lys) single nucleotide variant Pathogenic rs267606936 GRCh37 Chromosome 10, 95422785: 95422785
14 PDE6C NM_006204.3(PDE6C): c.2368G> A (p.Glu790Lys) single nucleotide variant Pathogenic rs267606936 GRCh38 Chromosome 10, 93663028: 93663028
15 PDE6C NM_006204.3(PDE6C): c.481-12T> A single nucleotide variant Pathogenic rs786200909 GRCh37 Chromosome 10, 95380377: 95380377
16 PDE6C NM_006204.3(PDE6C): c.481-12T> A single nucleotide variant Pathogenic rs786200909 GRCh38 Chromosome 10, 93620620: 93620620
17 PDE6C NM_006204.3(PDE6C): c.1483-2A> G single nucleotide variant Pathogenic rs786200910 GRCh37 Chromosome 10, 95399825: 95399825
18 PDE6C NM_006204.3(PDE6C): c.1483-2A> G single nucleotide variant Pathogenic rs786200910 GRCh38 Chromosome 10, 93640068: 93640068
19 PDE6C NM_006204.3(PDE6C): c.1805A> T (p.His602Leu) single nucleotide variant Pathogenic rs267606934 GRCh37 Chromosome 10, 95400744: 95400744
20 PDE6C NM_006204.3(PDE6C): c.1805A> T (p.His602Leu) single nucleotide variant Pathogenic rs267606934 GRCh38 Chromosome 10, 93640987: 93640987
21 PDE6C NM_006204.3(PDE6C): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs267606937 GRCh37 Chromosome 10, 95381791: 95381791
22 PDE6C NM_006204.3(PDE6C): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs267606937 GRCh38 Chromosome 10, 93622034: 93622034
23 PDE6C NM_006204.3(PDE6C): c.2457T> A (p.Tyr819Ter) single nucleotide variant Pathogenic rs267606935 GRCh37 Chromosome 10, 95422874: 95422874
24 PDE6C NM_006204.3(PDE6C): c.2457T> A (p.Tyr819Ter) single nucleotide variant Pathogenic rs267606935 GRCh38 Chromosome 10, 93663117: 93663117
25 PDE6C NM_006204.3(PDE6C): c.1682dupA (p.Tyr561Terfs) duplication Pathogenic rs786200911 GRCh37 Chromosome 10, 95400259: 95400259
26 PDE6C NM_006204.3(PDE6C): c.1682dupA (p.Tyr561Terfs) duplication Pathogenic rs786200911 GRCh38 Chromosome 10, 93640502: 93640502
27 PDE6C NM_006204.3(PDE6C): c.1958T> C (p.Leu653Pro) single nucleotide variant Likely pathogenic rs863224908 GRCh38 Chromosome 10, 93655782: 93655782
28 PDE6C NM_006204.3(PDE6C): c.1958T> C (p.Leu653Pro) single nucleotide variant Likely pathogenic rs863224908 GRCh37 Chromosome 10, 95415539: 95415539
29 PDE6C NM_006204.3(PDE6C): c.252G> T (p.Leu84=) single nucleotide variant Conflicting interpretations of pathogenicity rs1131978 GRCh37 Chromosome 10, 95372734: 95372734
30 PDE6C NM_006204.3(PDE6C): c.252G> T (p.Leu84=) single nucleotide variant Conflicting interpretations of pathogenicity rs1131978 GRCh38 Chromosome 10, 93612977: 93612977
31 PDE6C NM_006204.3(PDE6C): c.1755G> T (p.Lys585Asn) single nucleotide variant Likely benign rs45522236 GRCh38 Chromosome 10, 93640937: 93640937
32 PDE6C NM_006204.3(PDE6C): c.1755G> T (p.Lys585Asn) single nucleotide variant Likely benign rs45522236 GRCh37 Chromosome 10, 95400694: 95400694
33 PDE6C NM_006204.3(PDE6C): c.2466G> A (p.Lys822=) single nucleotide variant Benign rs79487435 GRCh38 Chromosome 10, 93663126: 93663126
34 PDE6C NM_006204.3(PDE6C): c.2466G> A (p.Lys822=) single nucleotide variant Benign rs79487435 GRCh37 Chromosome 10, 95422883: 95422883

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

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