ACHM4
MCID: ACH023
MIFTS: 39

Achromatopsia 4 (ACHM4)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Achromatopsia 4

MalaCards integrated aliases for Achromatopsia 4:

Name: Achromatopsia 4 57 12 72 29 6 15 70
Achm4 57 12 72
Achromatopsia, Type 4 39
Achromatopsia-4 13

Characteristics:

HPO:

31
achromatopsia 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110010
OMIM® 57 613856
MeSH 44 D003117
MedGen 41 C1841721
UMLS 70 C1841721

Summaries for Achromatopsia 4

OMIM® : 57 Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus (Kohl et al., 2002). For a general description and a discussion of genetic heterogeneity of achromatopsia, see 216900. (613856) (Updated 05-Apr-2021)

MalaCards based summary : Achromatopsia 4, also known as achm4, is related to cone-rod dystrophy 6 and cone dystrophy. An important gene associated with Achromatopsia 4 is GNAT2 (G Protein Subunit Alpha Transducin 2), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Phototransduction. Affiliated tissues include retina, and related phenotypes are nystagmus and visual impairment

Disease Ontology : 12 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13.

UniProtKB/Swiss-Prot : 72 Achromatopsia 4: 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.

Related Diseases for Achromatopsia 4

Diseases in the Achromatopsia family:

Achromatopsia 2 Achromatopsia 3
Achromatopsia 4 Achromatopsia 7

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 6 29.2 RPE65 PDE6H PDE6C KCNV2 GNAT2 CNGB3
2 cone dystrophy 28.7 RPE65 RHO PDE6H PDE6C KCNV2 GNAT2
3 achromatopsia 28.5 RPE65 RHO PDE6H PDE6C KCNV2 GNAT2
4 fundus dystrophy 28.0 SMAD9 RPE65 RHO PDE6H PDE6C KCNV2
5 retinitis pigmentosa 44 10.2 CNGB3 CNGA3
6 cycloplegia 10.2 PDE6H PDE6C GNAT2
7 cone-rod dystrophy 8 10.2 GNAT2 CNGB3 CNGA3
8 night blindness, congenital stationary, type 2a 10.2 PDE6H GNAT2
9 oligocone trichromacy 10.1 PDE6C GNAT2 CNGB3 CNGA3
10 jalili syndrome 10.1 PDE6C GNAT2 CNGB3 CNGA3
11 leber congenital amaurosis 4 10.0 RPE65 PDE6C
12 choroidal dystrophy, central areolar, 1 10.0 RPE65 PDE6H PDE6C
13 cone dystrophy 3 10.0 RHO PDE6H KCNV2
14 achromatopsia 2 10.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
15 tritanopia 10.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
16 achromatopsia 3 10.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
17 blue cone monochromacy 10.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
18 occult macular dystrophy 9.9 RHO KCNV2 CNGB3
19 retinitis pigmentosa 26 9.9 CNGB3 CNGA3
20 inherited retinal disorder 9.9
21 stargardt disease 1 9.9 RHO KCNV2 CNGB3
22 macular dystrophy, dominant cystoid 9.9 RPE65 RHO
23 yemenite deaf-blind hypopigmentation syndrome 9.9 RPE65 RHO
24 achromatopsia 7 9.8 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
25 leber congenital amaurosis 2 9.8 RPE65 RHO CNGB3
26 colorblindness, partial, protan series 9.8 RHO PDE6C GNAT2 CNGB3 CNGA3
27 hereditary retinal dystrophy 9.8 RPE65 RHO
28 prolonged electroretinal response suppression 9.8 RHO KCNV2 GNAT2 CNGB3 CNGA3
29 vitreous disease 9.7 RPE65 RHO
30 choroid disease 9.7 RPE65 RHO CNGB3 CNGA3
31 choroideremia 9.7 RPE65 RHO CNGB3 CNGA3
32 night blindness 9.7 RPE65 RHO PDE6H KCNV2
33 leber congenital amaurosis 1 9.7 RPE65 RHO CNGB3 CNGA3
34 retinal disease 9.7 RPE65 RHO CNGB3 CNGA3
35 enhanced s-cone syndrome 9.6 RPE65 RHO GNAT2 CNGB3 CNGA3
36 retinoschisis 1, x-linked, juvenile 9.6 RPE65 RHO GNAT2 CNGB3 CNGA3
37 eye degenerative disease 9.6 RPE65 RHO GNAT2 CNGB3 CNGA3
38 scotoma 9.6 RPE65 RHO KCNV2 CNGB3 CNGA3
39 vitelliform macular dystrophy 9.6 RPE65 RHO KCNV2 CNGB3 CNGA3
40 usher syndrome 9.6 RPE65 RHO GNAT2 CNGB3 CNGA3
41 macular degeneration, age-related, 1 9.6 RPE65 RHO GNAT2 CNGB3 CNGA3
42 eye disease 9.5 RPE65 RHO GNAT2 CNGB3 CNGA3
43 congenital stationary night blindness 9.5 RPE65 RHO PDE6C GNAT2 CNGB3 CNGA3
44 stargardt disease 9.5 RPE65 RHO KCNV2 GNAT2 CNGB3 CNGA3
45 red-green color blindness 9.4 RPE65 RHO PDE6H PDE6C GNAT2 CNGB3
46 color blindness 9.4 RPE65 RHO PDE6H PDE6C GNAT2 CNGB3
47 pathologic nystagmus 9.4 RPE65 RHO PDE6C KCNV2 GNAT2 CNGB3
48 leber plus disease 9.2 RPE65 RHO PDE6H PDE6C KCNV2 GNAT2
49 cone-rod dystrophy 2 9.1 RPE65 RHO PDE6H PDE6C KCNV2 GNAT2
50 retinitis pigmentosa 8.3 SMAD9 RPL19 RPE65 RHO PDE6H PDE6C

Graphical network of the top 20 diseases related to Achromatopsia 4:



Diseases related to Achromatopsia 4

Symptoms & Phenotypes for Achromatopsia 4

Human phenotypes related to Achromatopsia 4:

31
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 visual impairment 31 HP:0000505
3 photophobia 31 HP:0000613
4 achromatopsia 31 HP:0011516

Clinical features from OMIM®:

613856 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Achromatopsia 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with imatinib mesylate GR00181-A 8.8 PDE6C PDE6H SEL1L

MGI Mouse Phenotypes related to Achromatopsia 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 CNGA3 CNGB3 DHFR GNAT2 HERPUD1 KCNV2
2 vision/eye MP:0005391 9.28 CNGA3 CNGB3 GNAT2 KCNV2 PDE6C PDE6H

Drugs & Therapeutics for Achromatopsia 4

Search Clinical Trials , NIH Clinical Center for Achromatopsia 4

Genetic Tests for Achromatopsia 4

Genetic tests related to Achromatopsia 4:

# Genetic test Affiliating Genes
1 Achromatopsia 4 29 GNAT2

Anatomical Context for Achromatopsia 4

MalaCards organs/tissues related to Achromatopsia 4:

40
Retina

Publications for Achromatopsia 4

Articles related to Achromatopsia 4:

# Title Authors PMID Year
1
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). 57 6 61
12205108 2002
2
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. 57 6
12077706 2002
3
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. 6
21107338 2011
4
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. 6
15557429 2004
5
A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. 6
15094710 2004

Variations for Achromatopsia 4

ClinVar genetic disease variations for Achromatopsia 4:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNAT2 NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu) SNV Pathogenic 812114 rs1570562309 GRCh37: 1:110148707-110148707
GRCh38: 1:109606085-109606085
2 GNAT2 NM_005272.4(GNAT2):c.235C>T (p.Gln79Ter) SNV Pathogenic 15922 rs121434585 GRCh37: 1:110152730-110152730
GRCh38: 1:109610108-109610108
3 GNAT2 NM_001377295.2(GNAT2):c.966del (p.His322fs) Deletion Pathogenic 1032307 GRCh37: 1:110146075-110146075
GRCh38: 1:109603453-109603453
4 GNAT2 GNAT2, NT285, 7-BP DEL/6-BP INS Indel Pathogenic 15924 GRCh37:
GRCh38:
5 GNAT2 GNAT2, 4-BP INS, 842TCAG Insertion Pathogenic 15923 GRCh37:
GRCh38:
6 GNAT2 NM_005272.4(GNAT2):c.955del (p.Ile319fs) Deletion Pathogenic 623287 rs1557917535 GRCh37: 1:110146086-110146086
GRCh38: 1:109603464-109603464
7 GNAT2 NM_005272.4(GNAT2):c.481C>T (p.Arg161Ter) SNV Pathogenic 522772 rs745308973 GRCh37: 1:110149039-110149039
GRCh38: 1:109606417-109606417
8 GNAT2 NM_005272.4(GNAT2):c.591-2A>C SNV Pathogenic 623276 rs1557918638 GRCh37: 1:110148723-110148723
GRCh38: 1:109606101-109606101
9 GNAT2 NM_005272.4(GNAT2):c.503dup (p.Pro169_Ser170insTer) Duplication Pathogenic 623275 rs1557918911 GRCh37: 1:110149016-110149017
GRCh38: 1:109606394-109606395
10 GNAT2 NM_005272.4(GNAT2):c.313C>T (p.Arg105Ter) SNV Pathogenic 623274 rs1403825722 GRCh37: 1:110151401-110151401
GRCh38: 1:109608779-109608779
11 GNAT2 NM_005272.4(GNAT2):c.303+365_461+974del Deletion Pathogenic 623273 GRCh37: 1:110150279-110152297
GRCh38: 1:109607657-109609675
12 GNAT2 NM_001377295.2(GNAT2):c.303+365_461+974dup Duplication Pathogenic 623272 GRCh37: 1:110150278-110150279
GRCh38: 1:109607656-109607657
13 GNAT2 NM_005272.4(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs) Indel Pathogenic 623271 rs1557920291 GRCh37: 1:110152674-110152680
GRCh38: 1:109610052-109610058
14 GNAT2 NM_005272.4(GNAT2):c.803_806dup (p.Lys270fs) Duplication Pathogenic 623282 rs1557917899 GRCh37: 1:110146640-110146641
GRCh38: 1:109604018-109604019
15 GNAT2 NM_005272.4(GNAT2):c.720+2T>C SNV Pathogenic 623280 rs1557918544 GRCh37: 1:110148590-110148590
GRCh38: 1:109605968-109605968
16 GNAT2 NM_005272.4(GNAT2):c.139A>G (p.Ser47Gly) SNV Likely pathogenic 623270 rs146606352 GRCh37: 1:110153109-110153109
GRCh38: 1:109610487-109610487
17 GNAT2 NM_005272.4(GNAT2):c.107T>G (p.Leu36Arg) SNV Likely pathogenic 623269 rs1240543072 GRCh37: 1:110155386-110155386
GRCh38: 1:109612764-109612764
18 GNAT2 NM_005272.4(GNAT2):c.937C>T (p.Arg313Ter) SNV Likely pathogenic 623285 rs748981899 GRCh37: 1:110146104-110146104
GRCh38: 1:109603482-109603482
19 GNAT2 NM_005272.4(GNAT2):c.808_810AAG[1] (p.Lys271del) Microsatellite Likely pathogenic 623283 rs1268228697 GRCh37: 1:110146634-110146636
GRCh38: 1:109604012-109604014
20 GNAT2 NM_005272.4(GNAT2):c.461+24G>A SNV Conflicting interpretations of pathogenicity 15925 rs397515384 GRCh37: 1:110151229-110151229
GRCh38: 1:109608607-109608607
21 GNAT2 NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met) SNV Uncertain significance 873744 GRCh37: 1:110152722-110152722
GRCh38: 1:109610100-109610100
22 GNAT2 NM_005272.4(GNAT2):c.724C>T (p.Arg242Cys) SNV Uncertain significance 623281 rs754414120 GRCh37: 1:110146723-110146723
GRCh38: 1:109604101-109604101
23 GNAT2 NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys) SNV Uncertain significance 876589 GRCh37: 1:110148597-110148597
GRCh38: 1:109605975-109605975
24 GNAT2 NM_005272.4(GNAT2):c.886T>C (p.Tyr296His) SNV Uncertain significance 623284 rs757147586 GRCh37: 1:110146155-110146155
GRCh38: 1:109603533-109603533
25 GNAT2 NM_005272.4(GNAT2):c.427G>A (p.Ala143Thr) SNV Uncertain significance 291721 rs149421007 GRCh37: 1:110151287-110151287
GRCh38: 1:109608665-109608665
26 GNAT2 NM_005272.4(GNAT2):c.257G>A (p.Arg86Gln) SNV Uncertain significance 291723 rs140250745 GRCh37: 1:110152708-110152708
GRCh38: 1:109610086-109610086
27 GNAT2 NM_005272.4(GNAT2):c.943G>A (p.Asp315Asn) SNV Uncertain significance 623286 rs950519744 GRCh37: 1:110146098-110146098
GRCh38: 1:109603476-109603476
28 GNAT2 NM_001377295.2(GNAT2):c.461+10A>T SNV Uncertain significance 873742 GRCh37: 1:110151243-110151243
GRCh38: 1:109608621-109608621
29 GNAT2 NM_001377295.2(GNAT2):c.246G>A (p.Leu82=) SNV Uncertain significance 873743 GRCh37: 1:110152719-110152719
GRCh38: 1:109610097-109610097
30 GNAT2 NM_001377295.2(GNAT2):c.213T>G (p.Ala71=) SNV Uncertain significance 874700 GRCh37: 1:110152752-110152752
GRCh38: 1:109610130-109610130
31 GNAT2 NM_001377295.2(GNAT2):c.*102C>A SNV Uncertain significance 875594 GRCh37: 1:110145874-110145874
GRCh38: 1:109603252-109603252
32 GNAT2 NM_001377295.2(GNAT2):c.*50G>C SNV Uncertain significance 875595 GRCh37: 1:110145926-110145926
GRCh38: 1:109603304-109603304
33 GNAT2 NM_001377295.2(GNAT2):c.845A>C (p.His282Pro) SNV Uncertain significance 876588 GRCh37: 1:110146602-110146602
GRCh38: 1:109603980-109603980
34 GNAT2 NM_001377295.2(GNAT2):c.591-9T>C SNV Uncertain significance 876590 GRCh37: 1:110148730-110148730
GRCh38: 1:109606108-109606108
35 GNAT2 NM_005272.4(GNAT2):c.928C>T (p.Leu310Phe) SNV Uncertain significance 291718 rs200883344 GRCh37: 1:110146113-110146113
GRCh38: 1:109603491-109603491
36 GNAT2 NM_005272.4(GNAT2):c.-88C>G SNV Uncertain significance 291725 rs886045029 GRCh37: 1:110155580-110155580
GRCh38: 1:109612958-109612958
37 GNAT2 NM_005272.4(GNAT2):c.672T>C (p.Cys224=) SNV Uncertain significance 291719 rs201230566 GRCh37: 1:110148640-110148640
GRCh38: 1:109606018-109606018
38 GNAT2 NM_005272.4(GNAT2):c.14C>T (p.Ala5Val) SNV Uncertain significance 291724 rs199503029 GRCh37: 1:110155479-110155479
GRCh38: 1:109612857-109612857
39 GNAT2 NM_005272.4(GNAT2):c.-131G>A SNV Uncertain significance 291726 rs532113128 GRCh37: 1:110155623-110155623
GRCh38: 1:109613001-109613001
40 GNAT2 NM_005272.4(GNAT2):c.609G>T (p.Gly203=) SNV Uncertain significance 291720 rs551776784 GRCh37: 1:110148703-110148703
GRCh38: 1:109606081-109606081
41 GNAT2 NM_005272.4(GNAT2):c.933T>C (p.Asn311=) SNV Uncertain significance 198818 rs34723289 GRCh37: 1:110146108-110146108
GRCh38: 1:109603486-109603486
42 GNAT2 NM_005272.4(GNAT2):c.623G>C (p.Arg208Thr) SNV Uncertain significance 623279 rs995152260 GRCh37: 1:110148689-110148689
GRCh38: 1:109606067-109606067
43 GNAT2 NM_005272.4(GNAT2):c.620A>T (p.Glu207Val) SNV Uncertain significance 623278 rs1557918619 GRCh37: 1:110148692-110148692
GRCh38: 1:109606070-109606070
44 GNAT2 NM_005272.4(GNAT2):c.593T>A (p.Met198Lys) SNV Uncertain significance 623277 rs1557918635 GRCh37: 1:110148719-110148719
GRCh38: 1:109606097-109606097
45 GNAT2 NM_005272.4(GNAT2):c.147C>T (p.Ile49=) SNV Likely benign 195241 rs146945932 GRCh37: 1:110153101-110153101
GRCh38: 1:109610479-109610479
46 GNAT2 NM_005272.4(GNAT2):c.370G>A (p.Val124Met) SNV Likely benign 197251 rs41280330 GRCh37: 1:110151344-110151344
GRCh38: 1:109608722-109608722
47 GNAT2 NM_001377295.2(GNAT2):c.-53-76A>G SNV Likely benign 874701 GRCh37: 1:110155621-110155621
GRCh38: 1:109612999-109612999
48 GNAT2 NM_005272.4(GNAT2):c.369C>T (p.Leu123=) SNV Likely benign 291722 rs12046787 GRCh37: 1:110151345-110151345
GRCh38: 1:109608723-109608723
49 GNAT2 NM_005272.4(GNAT2):c.546G>A (p.Thr182=) SNV Benign 259744 rs1799875 GRCh37: 1:110148974-110148974
GRCh38: 1:109606352-109606352
50 GNAT2 NM_005272.4(GNAT2):c.-32A>G SNV Benign 259742 rs2304355 GRCh37: 1:110155524-110155524
GRCh38: 1:109612902-109612902

Expression for Achromatopsia 4

Search GEO for disease gene expression data for Achromatopsia 4.

Pathways for Achromatopsia 4

GO Terms for Achromatopsia 4

Cellular components related to Achromatopsia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.8 SEL1L RPE65 HERPUD1 EDEM1 ATF6B ATF6
2 integral component of endoplasmic reticulum membrane GO:0030176 9.54 EDEM1 ATF6B ATF6
3 photoreceptor outer segment GO:0001750 9.43 RHO GNAT2 CNGB3
4 transmembrane transporter complex GO:1902495 9.16 CNGB3 CNGA3
5 endoplasmic reticulum quality control compartment GO:0044322 9.13 SEL1L HERPUD1 EDEM1
6 photoreceptor outer segment membrane GO:0042622 8.8 RHO PDE6H GNAT2

Biological processes related to Achromatopsia 4 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.1 RHO PDE6C GNAT2 CNGB3 CNGA3 ATF6B
2 phototransduction GO:0007602 9.55 RHO GNAT2
3 response to light stimulus GO:0009416 9.54 RPE65 RHO
4 detection of light stimulus involved in visual perception GO:0050908 9.52 RPE65 GNAT2
5 protein targeting to ER GO:0045047 9.51 HERPUD1 EDEM1
6 ubiquitin-dependent ERAD pathway GO:0030433 9.5 SEL1L HERPUD1 EDEM1
7 response to stimulus GO:0050896 9.5 RPE65 RHO PDE6H PDE6C GNAT2 CNGB3
8 retrograde protein transport, ER to cytosol GO:0030970 9.49 SEL1L HERPUD1
9 sensory perception of light stimulus GO:0050953 9.48 RHO PDE6C
10 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.46 ATF6B ATF6
11 response to unfolded protein GO:0006986 9.46 HERPUD1 EDEM1 ATF6B ATF6
12 retinal cone cell development GO:0046549 9.43 PDE6C GNAT2
13 endoplasmic reticulum unfolded protein response GO:0030968 9.43 HERPUD1 ATF6B ATF6
14 ATF6-mediated unfolded protein response GO:0036500 9.4 ATF6B ATF6
15 phototransduction, visible light GO:0007603 9.37 RHO PDE6C
16 visual perception GO:0007601 9.23 RPE65 RHO PDE6H PDE6C GNAT2 CNGB3

Molecular functions related to Achromatopsia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.4 PDE6H PDE6C
2 cAMP response element binding GO:0035497 9.37 ATF6B ATF6
3 G protein-coupled photoreceptor activity GO:0008020 9.32 RHO GNAT2
4 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.26 PDE6H PDE6C
5 intracellular cAMP-activated cation channel activity GO:0005222 9.16 CNGB3 CNGA3
6 intracellular cGMP-activated cation channel activity GO:0005223 8.96 CNGB3 CNGA3
7 cGMP binding GO:0030553 8.92 PDE6H PDE6C CNGB3 CNGA3

Sources for Achromatopsia 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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