ACHM3
MCID: ACH021
MIFTS: 45

Achromatopsia 3 (ACHM3)

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

Aliases & Classifications for Achromatopsia 3

MalaCards integrated aliases for Achromatopsia 3:

Name: Achromatopsia 3 57 12 20 72 29 6 15 70
Pingelapese Blindness 57 12 20 72
Achm3 57 12 20 72
Total Colorblindness with Myopia 57 20 72
Achromatopsia with Myopia 57 20 72
Rod Monochromacy 1, Formerly; Rmch1, Formerly 57
Rod Monochromatism 1, Formerly 57
Rod Monochromacy 1, Formerly 57
Achromatopsia, Type 3 39
Rod Monochromatism 1 12
Rod Monochromacy 1 12
Achm1, Formerly 57
Rmch1, Formerly 57
Achromatopsia-3 13
Achm1 12
Rmch1 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
achromatopsia 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110008
OMIM® 57 262300
MeSH 44 D003117
MedGen 41 C1849792
UMLS 70 C1849792

Summaries for Achromatopsia 3

UniProtKB/Swiss-Prot : 72 Achromatopsia 3: An autosomal recessive, 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. Achromatopsia type 3 patients manifest severe myopia.

MalaCards based summary : Achromatopsia 3, also known as pingelapese blindness, is related to achromatopsia and pathologic nystagmus, and has symptoms including photophobia An important gene associated with Achromatopsia 3 is CNGB3 (Cyclic Nucleotide Gated Channel Subunit Beta 3), and among its related pathways/superpathways are CREB Pathway and cAMP signaling pathway. Affiliated tissues include eye and retina, and related phenotypes are cataract and photophobia

Disease Ontology : 12 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.

More information from OMIM: 262300

Related Diseases for Achromatopsia 3

Diseases in the Achromatopsia family:

Achromatopsia 2 Achromatopsia 3
Achromatopsia 4 Achromatopsia 7

Diseases related to Achromatopsia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 29.6 RPGRIP1 PDE6H PDE6C NYX GUCY2D GNAT2
2 pathologic nystagmus 28.0 RPGRIP1 PDE6C NYX GUCY2D GNAT2 FRMD7
3 nystagmus 1, congenital, x-linked 11.0
4 retinitis pigmentosa 44 10.2 CNGB3 CNGA3
5 color vision deficiency 10.2 RPGRIP1 CNGA3
6 x-linked congenital stationary night blindness 10.1 NYX CACNA1F
7 prolonged electroretinal response suppression 10.1 GNAT2 CNGB3 CNGA3
8 night blindness, congenital stationary, type 1c 10.1 NYX CACNA1F
9 cone-rod dystrophy 13 10.1 RPGRIP1 NYX
10 cone-rod dystrophy, x-linked, 3 10.1 NYX CACNA1F
11 enhanced s-cone syndrome 10.1 GNAT2 CNGB3 CNGA3
12 cycloplegia 10.1 PDE6H PDE6C GNAT2
13 cone-rod dystrophy 9 10.1 GUCY2D CNGB3
14 yemenite deaf-blind hypopigmentation syndrome 10.1
15 autosomal recessive disease 10.1
16 occult macular dystrophy 10.1 GUCY2D CNGB3
17 oguchi disease 10.0 NYX CACNA1F
18 leber congenital amaurosis 6 10.0 RPGRIP1 GUCY2D
19 spontaneous ocular nystagmus 10.0 RPGRIP1 FRMD7
20 choroid disease 10.0 GUCY2D CNGB3 CNGA3
21 scotoma 10.0 GUCY2D CNGB3 CNGA3
22 night blindness, congenital stationary, autosomal dominant 2 10.0 RPGRIP1 PDE6H LRRC70
23 leber congenital amaurosis 10 10.0 RPGRIP1 GUCY2D
24 oligocone trichromacy 10.0 PDE6C GNAT2 CNGB3 CNGA3
25 choroideremia 10.0 GUCY2D CNGB3 CNGA3
26 colorblindness, partial, protan series 10.0 PDE6C GNAT2 CNGB3 CNGA3
27 vitelliform macular dystrophy 10.0 GUCY2D CNGB3 CNGA3
28 jalili syndrome 10.0 PDE6C GNAT2 CNGB3 CNGA3
29 night blindness, congenital stationary, type 1e 10.0 NYX CACNA1F
30 leber congenital amaurosis 3 10.0 RPGRIP1 GUCY2D
31 leber congenital amaurosis 2 10.0 RPGRIP1 GUCY2D CNGB3
32 choroidal dystrophy, central areolar, 1 10.0 PDE6H PDE6C GUCY2D
33 leber congenital amaurosis 4 9.9 RPGRIP1 PDE6C GUCY2D
34 congenital nystagmus 9.9 FRMD7 CNGB3 CNGA3
35 night blindness, congenital stationary, type 1b 9.9 NYX CACNA1F
36 cone-rod dystrophy 3 9.9 GUCY2D CACNA1F
37 retinitis pigmentosa 26 9.9 CNGB3 CNGA3
38 ifap syndrome 2 9.9
39 night blindness, congenital stationary, type 1a 9.9 NYX LRRC70 CACNA1F
40 cone-rod dystrophy 8 9.9 GUCY2D GNAT2 CNGB3 CNGA3
41 night blindness, congenital stationary, type 2a 9.8 PDE6H NYX GNAT2 CACNA1F
42 eye degenerative disease 9.8 GUCY2D GNAT2 CNGB3 CNGA3
43 achromatopsia 7 9.8 PDE6H PDE6C GNAT2 CNGB3 CNGA3
44 red-green color blindness 9.8 PDE6H PDE6C GNAT2 CNGB3 CNGA3
45 leber congenital amaurosis 1 9.8 RPGRIP1 GUCY2D CNGB3 CNGA3
46 achromatopsia 2 9.8 PDE6H PDE6C GNAT2 CNGB3 CNGA3
47 tritanopia 9.8 PDE6H PDE6C GNAT2 CNGB3 CNGA3
48 stargardt disease 9.8 GUCY2D GNAT2 CNGB3 CNGA3
49 achromatopsia 4 9.8 PDE6H PDE6C GNAT2 CNGB3 CNGA3
50 macular degeneration, age-related, 1 9.8 GUCY2D GNAT2 CNGB3 CNGA3

Graphical network of the top 20 diseases related to Achromatopsia 3:



Diseases related to Achromatopsia 3

Symptoms & Phenotypes for Achromatopsia 3

Human phenotypes related to Achromatopsia 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 photophobia 31 HP:0000613
3 high myopia 31 HP:0011003
4 severely reduced visual acuity 31 HP:0001141
5 dyschromatopsia 31 HP:0007641
6 horizontal pendular nystagmus 31 HP:0007811
7 monochromacy 31 HP:0007803
8 achromatopsia 31 HP:0011516

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
cataract
photophobia
horizontal pendular nystagmus
severe myopia
colorblindness
more

Clinical features from OMIM®:

262300 (Updated 20-May-2021)

UMLS symptoms related to Achromatopsia 3:


photophobia

MGI Mouse Phenotypes related to Achromatopsia 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 CACNA1F CNGA3 CNGB3 GNAT2 GUCY2D OPALIN
2 vision/eye MP:0005391 9.36 CACNA1F CNGA3 CNGB3 FRMD7 GNAT2 GUCY2D

Drugs & Therapeutics for Achromatopsia 3

Search Clinical Trials , NIH Clinical Center for Achromatopsia 3

Genetic Tests for Achromatopsia 3

Genetic tests related to Achromatopsia 3:

# Genetic test Affiliating Genes
1 Achromatopsia 3 29 CNGB3

Anatomical Context for Achromatopsia 3

MalaCards organs/tissues related to Achromatopsia 3:

40
Eye, Retina

Publications for Achromatopsia 3

Articles related to Achromatopsia 3:

(show all 41)
# Title Authors PMID Year
1
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. 6 57
17265047 2007
2
Genetic basis of total colourblindness among the Pingelapese islanders. 6 57
10888875 2000
3
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. 6 57
1347967 1992
4
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 61 6
15657609 2005
5
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. 57 61
12140185 2002
6
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 6 61
10958649 2000
7
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
8
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 6
29186038 2017
9
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 6
28795510 2017
10
Identifying mutations in Tunisian families with retinal dystrophy. 6
27874104 2016
11
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 6
26992781 2016
12
Retinal Development in Infants and Young Children with Achromatopsia. 57
25972256 2015
13
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. 6
25616768 2015
14
Antifungal activity of compounds targeting the Hsp90-calcineurin pathway against various mould species. 6
25558076 2015
15
Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels. 6
26106334 2015
16
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
17
CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function. 6
25205868 2014
18
Retinal structure and function in achromatopsia: implications for gene therapy. 6
24148654 2014
19
Five novel CNGB3 gene mutations in Polish patients with achromatopsia. 6
25558176 2014
20
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 57
22975760 2013
21
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. 6
23776498 2013
22
Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells. 6
23805033 2013
23
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. 6
20574029 2010
24
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. 6
20079539 2010
25
Genetic etiology and clinical consequences of complete and incomplete achromatopsia. 6
19592100 2009
26
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. 6
17652762 2007
27
Optical coherence tomography of the macula in congenital achromatopsia. 57
17460287 2007
28
Clinical and genetic features of Hungarian achromatopsia patients. 6
16319819 2005
29
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 6
15712225 2005
30
[Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes]. 6
15459792 2004
31
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 6
14757870 2004
32
Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. 6
12815043 2003
33
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. 6
12357335 2002
34
Genetic bases of total colourblindness among the pingelapese islanders. Sudin OH,*(1) yang YM, Li Y, zhu D, hurd JN, mitchell TN, silva ED, maumenee IH. Nat gen 2000;25:289-293 6
11124331 2000
35
A locus for autosomal recessive achromatopsia on human chromosome 8q. 57
10466422 1999
36
Homozygosity mapping of the Achromatopsia locus in the Pingelapese. 57
10330355 1999
37
Pingelap eye disease. 57
4195805 1970
38
Hereditary blindness among Pingelapese people of Eastern Caroline Islands. 57
4192495 1970
39
Sleep in unnatural times: illuminated night negatively affects sleep and associated hypothalamic gene expressions in diurnal zebra finches. 61
32517617 2020
40
Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology. 61
24161406 2013
41
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). 61
12187427 2002

Variations for Achromatopsia 3

ClinVar genetic disease variations for Achromatopsia 3:

6 (show top 50) (show all 235)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNGB3 CNGB3, 1-BP INS, 492T Insertion Pathogenic 5224 GRCh37:
GRCh38:
2 CNGB3 CNGB3, 8-BP DEL, NT819 Deletion Pathogenic 5226 GRCh37:
GRCh38:
3 CNGB3 NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe) SNV Pathogenic 5222 rs121918344 GRCh37: 8:87644996-87644996
GRCh38: 8:86632768-86632768
4 CNGB3 NM_019098.4(CNGB3):c.1781+1G>C SNV Pathogenic 427709 rs1375507464 GRCh37: 8:87616320-87616320
GRCh38: 8:86604092-86604092
5 CNGB3 NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs) Indel Pathogenic 427664 rs1554609956 GRCh37: 8:87638255-87638255
GRCh38: 8:86626027-86626027
6 CNGB3 NM_019098.4(CNGB3):c.1426C>T (p.Gln476Ter) SNV Pathogenic 427691 rs1554610284 GRCh37: 8:87641201-87641201
GRCh38: 8:86628973-86628973
7 CNGB3 NM_019098.4(CNGB3):c.95dup (p.His32fs) Duplication Pathogenic 427645 rs1554619500 GRCh37: 8:87755760-87755761
GRCh38: 8:86743532-86743533
8 CNGB3 NM_019098.4(CNGB3):c.1285dup (p.Ser429fs) Duplication Pathogenic 427659 rs776896038 GRCh37: 8:87645014-87645015
GRCh38: 8:86632786-86632787
9 CNGB3 NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs) Indel Pathogenic 427661 rs1554610279 GRCh37: 8:87641196-87641197
GRCh38: 8:86628968-86628969
10 CNGB3 NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del Deletion Pathogenic 427712 GRCh37:
GRCh38:
11 CNGB3 NM_019098.4(CNGB3):c.281_284del (p.Pro94fs) Deletion Pathogenic 427648 rs1554618413 GRCh37: 8:87738813-87738816
GRCh38: 8:86726585-86726588
12 CNGB3 NM_019098.4(CNGB3):c.1635T>A (p.Tyr545Ter) SNV Pathogenic 427694 rs1554608319 GRCh37: 8:87623843-87623843
GRCh38: 8:86611615-86611615
13 CNGB3 NM_019098.4(CNGB3):c.682dup (p.Ala228fs) Duplication Pathogenic 427651 rs1554614038 GRCh37: 8:87679322-87679323
GRCh38: 8:86667094-86667095
14 CNGB3 NM_019098.4(CNGB3):c.494-2A>T SNV Pathogenic 427697 rs1554614157 GRCh37: 8:87680398-87680398
GRCh38: 8:86668170-86668170
15 CNGB3 NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770] Insertion Pathogenic 430673 GRCh37:
GRCh38: 8:86711345-86711346
16 CNGB3 NM_019098.4(CNGB3):c.904-2824_1782-8208delins[KY923049.1:g.1_466] Indel Pathogenic 427718 GRCh37:
GRCh38: 8:86587460-86650711
17 CNGB3 NM_019098.4(CNGB3):c.756C>G (p.Tyr252Ter) SNV Pathogenic 427685 rs371318766 GRCh37: 8:87679249-87679249
GRCh38: 8:86667021-86667021
18 CNGB3 NM_019098.4(CNGB3):c.852+1G>C SNV Pathogenic 427699 rs1201521544 GRCh37: 8:87679152-87679152
GRCh38: 8:86666924-86666924
19 CNGB3 NM_019098.4(CNGB3):c.2221del (p.Asp741fs) Deletion Pathogenic 427667 rs1554604552 GRCh37: 8:87588241-87588241
GRCh38: 8:86576013-86576013
20 CNGB3 NM_019098.4(CNGB3):c.791_794del (p.Tyr264fs) Deletion Pathogenic 427654 rs1554613998 GRCh37: 8:87679211-87679214
GRCh38: 8:86666983-86666986
21 CNGB3 NM_019098.4(CNGB3):c.3G>A (p.Met1Ile) SNV Pathogenic 427670 rs1554619513 GRCh37: 8:87755853-87755853
GRCh38: 8:86743625-86743625
22 CNGB3 NM_019098.4(CNGB3):c.265C>T (p.Gln89Ter) SNV Pathogenic 427682 rs1554618417 GRCh37: 8:87738832-87738832
GRCh38: 8:86726604-86726604
23 CNGB3 NM_019098.4(CNGB3):c.1243C>T (p.Gln415Ter) SNV Pathogenic 427689 rs1554610668 GRCh37: 8:87645057-87645057
GRCh38: 8:86632829-86632829
24 CNGB3 NM_019098.4(CNGB3):c.886_896delinsT (p.Thr296fs) Indel Pathogenic 363876 rs886063161 GRCh37: 8:87666247-87666257
GRCh38: 8:86654019-86654029
25 CNGB3 NM_019098.4(CNGB3):c.1297_1298GT[1] (p.Phe434fs) Microsatellite Pathogenic 427660 rs1554610655 GRCh37: 8:87645000-87645001
GRCh38: 8:86632772-86632773
26 CNGB3 NM_019098.5(CNGB3):c.1782-3723_2103+739del Deletion Pathogenic 427721 GRCh37: 8:87590178-87595203
GRCh38: 8:86577950-86582975
27 CNGB3 NM_019098.4(CNGB3):c.1579-2A>G SNV Pathogenic 427705 rs772725807 GRCh37: 8:87623901-87623901
GRCh38: 8:86611673-86611673
28 CNGB3 NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA (p.Gln131fs) Indel Pathogenic 427649 rs1554614423 GRCh37: 8:87683271-87683272
GRCh38: 8:86671043-86671044
29 CNGB3 NM_019098.4(CNGB3):c.1493del (p.Leu498fs) Deletion Pathogenic 427662 rs773381712 GRCh37: 8:87638296-87638296
GRCh38: 8:86626068-86626068
30 CNGB3 NM_019098.5(CNGB3):c.212-2527_338+2854del Deletion Pathogenic 427713 GRCh37: 8:87735905-87741412
GRCh38: 8:86723677-86729184
31 CNGB3 NM_019098.4(CNGB3):c.129+2T>C SNV Pathogenic 427695 rs1554619498 GRCh37: 8:87755725-87755725
GRCh38: 8:86743497-86743497
32 CNGB3 NM_019098.4(CNGB3):c.301C>T (p.Gln101Ter) SNV Pathogenic 427683 rs1554618404 GRCh37: 8:87738796-87738796
GRCh38: 8:86726568-86726568
33 CNGB3 NM_019098.4(CNGB3):c.643+2T>C SNV Pathogenic 427698 rs1391492794 GRCh37: 8:87680245-87680245
GRCh38: 8:86668017-86668017
34 CNGB3 NM_019098.4(CNGB3):c.1782-2A>C SNV Pathogenic 427710 rs1554604851 GRCh37: 8:87591482-87591482
GRCh38: 8:86579254-86579254
35 CNGB3 NM_019098.4(CNGB3):c.1566_1569dup (p.Leu524fs) Duplication Pathogenic 427665 rs1554609946 GRCh37: 8:87638219-87638220
GRCh38: 8:86625991-86625992
36 CNGB3 NM_019098.4(CNGB3):c.31dup (p.Val11fs) Duplication Pathogenic 427644 rs1554619509 GRCh37: 8:87755824-87755825
GRCh38: 8:86743596-86743597
37 CNGB3 NM_019098.4(CNGB3):c.1255G>T (p.Glu419Ter) SNV Pathogenic 427690 rs372302139 GRCh37: 8:87645045-87645045
GRCh38: 8:86632817-86632817
38 CNGB3 NM_019098.4(CNGB3):c.1285del (p.Ser429fs) Deletion Pathogenic 427658 rs776896038 GRCh37: 8:87645015-87645015
GRCh38: 8:86632787-86632787
39 CNGB3 NM_019098.4(CNGB3):c.2103+1G>A SNV Pathogenic 427711 rs1554604767 GRCh37: 8:87590916-87590916
GRCh38: 8:86578688-86578688
40 CNGB3 NM_019098.4(CNGB3):c.706delinsTT (p.Ile236fs) Indel Pathogenic 427653 rs1554614022 GRCh37: 8:87679299-87679299
GRCh38: 8:86667071-86667071
41 CNGB3 NM_019098.4(CNGB3):c.1815del (p.Ala606fs) Deletion Pathogenic 427666 rs1362472371 GRCh37: 8:87591447-87591447
GRCh38: 8:86579219-86579219
42 CNGB3 NM_019098.4(CNGB3):c.2T>C (p.Met1Thr) SNV Pathogenic 427669 rs1554619514 GRCh37: 8:87755854-87755854
GRCh38: 8:86743626-86743626
43 CNGB3 NM_019098.4(CNGB3):c.208C>T (p.Gln70Ter) SNV Pathogenic 427681 rs1052078370 GRCh37: 8:87751886-87751886
GRCh38: 8:86739658-86739658
44 CNGB3 NM_019098.4(CNGB3):c.257del (p.Pro86fs) Deletion Pathogenic 427647 rs1554618420 GRCh37: 8:87738840-87738840
GRCh38: 8:86726612-86726612
45 CNGB3 NM_019098.4(CNGB3):c.1516del (p.Val506fs) Deletion Pathogenic 427663 rs768735888 GRCh37: 8:87638273-87638273
GRCh38: 8:86626045-86626045
46 CNGB3 NM_019098.4(CNGB3):c.589_590del (p.Leu197fs) Deletion Pathogenic 427650 rs1554614131 GRCh37: 8:87680300-87680301
GRCh38: 8:86668072-86668073
47 CNGB3 NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978] Insertion Pathogenic 430672 GRCh37:
GRCh38: 8:86688947-86688948
48 CNGB3 NM_019098.4(CNGB3):c.852+4013_903+1698dup Duplication Pathogenic 427717 GRCh37:
GRCh38: 8:86652314-86662912
49 CNGB3 NM_019098.4(CNGB3):c.130-1G>T SNV Pathogenic 427696 rs1554619303 GRCh37: 8:87751965-87751965
GRCh38: 8:86739737-86739737
50 CNGB3 NM_019098.4(CNGB3):c.873delinsCAAAC (p.Arg291fs) Indel Pathogenic 427655 rs1554612806 GRCh37: 8:87666270-87666270
GRCh38: 8:86654042-86654042

UniProtKB/Swiss-Prot genetic disease variations for Achromatopsia 3:

72
# Symbol AA change Variation ID SNP ID
1 CNGB3 p.Ser435Phe VAR_018111 rs121918344
2 CNGB3 p.Lys148Glu VAR_047609 rs369138501
3 CNGB3 p.Ser156Phe VAR_047610 rs139207764
4 CNGB3 p.Pro309Leu VAR_047612 rs155461214
5 CNGB3 p.Phe525Asn VAR_047618
6 CNGB3 p.Gly558Cys VAR_047619 rs749413012
7 CNGB3 p.Leu595Phe VAR_047620 rs155460484

Expression for Achromatopsia 3

Search GEO for disease gene expression data for Achromatopsia 3.

Pathways for Achromatopsia 3

Pathways related to Achromatopsia 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 GUCY2D GNAT2 CNGB3 CNGA3 CACNA1F
2 11.67 CNGB3 CNGA3 CACNA1F
3
Show member pathways
11.3 PDE6H PDE6C GUCY2D GNAT2 CNGB3 CNGA3
4 11.23 GUCY2D GNAT2 CNGB3 CNGA3

GO Terms for Achromatopsia 3

Cellular components related to Achromatopsia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter complex GO:1902495 9.16 CNGB3 CNGA3
2 photoreceptor outer segment membrane GO:0042622 9.13 PDE6H GUCY2D GNAT2
3 photoreceptor outer segment GO:0001750 8.92 GUCY2D GNAT2 CNGB3 CACNA1F

Biological processes related to Achromatopsia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.61 RPGRIP1 PDE6H PDE6C NYX GUCY2D GNAT2
2 visual perception GO:0007601 9.28 RPGRIP1 PDE6H PDE6C NYX GUCY2D GNAT2
3 detection of light stimulus involved in visual perception GO:0050908 9.26 GNAT2 CACNA1F
4 retinal cone cell development GO:0046549 9.16 PDE6C GNAT2

Molecular functions related to Achromatopsia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.85 SIK3 PDE6C GUCY2D GNAT2 CNGB3 CNGA3
2 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.32 PDE6H PDE6C
3 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.26 PDE6H PDE6C
4 intracellular cAMP-activated cation channel activity GO:0005222 9.16 CNGB3 CNGA3
5 intracellular cGMP-activated cation channel activity GO:0005223 8.96 CNGB3 CNGA3
6 cGMP binding GO:0030553 8.92 PDE6H PDE6C CNGB3 CNGA3

Sources for Achromatopsia 3

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
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57 OMIM® (Updated 20-May-2021)
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69 Tocris
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71 UMLS via Orphanet
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