ACHM7
MCID: ACH038
MIFTS: 37

Achromatopsia 7 (ACHM7)

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

Aliases & Classifications for Achromatopsia 7

MalaCards integrated aliases for Achromatopsia 7:

Name: Achromatopsia 7 57 12 72 29 6 15
Achm7 57 12 72
Achromatopsia, Type 7 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
symptoms present from infancy or early childhood
nonprogressive in most patients


HPO:

31
achromatopsia 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110009
OMIM® 57 616517
MeSH 44 D003117
MedGen 41 C4225297

Summaries for Achromatopsia 7

OMIM® : 57 Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by Kohl et al., 2015). For a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (216900). (616517) (Updated 05-Apr-2021)

MalaCards based summary : Achromatopsia 7, also known as achm7, is related to choroidal dystrophy, central areolar, 1 and night blindness, congenital stationary, type 2a. An important gene associated with Achromatopsia 7 is ATF6 (Activating Transcription Factor 6), and among its related pathways/superpathways are Phototransduction and Visual Cycle in Retinal Rods. The drugs Glycerol and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include retina, and related phenotypes are nystagmus and photophobia

Disease Ontology : 12 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.

UniProtKB/Swiss-Prot : 72 Achromatopsia 7: 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.

Related Diseases for Achromatopsia 7

Diseases in the Achromatopsia family:

Achromatopsia 2 Achromatopsia 3
Achromatopsia 4 Achromatopsia 7

Diseases related to Achromatopsia 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 choroidal dystrophy, central areolar, 1 9.9 PDE6H PDE6C
2 night blindness, congenital stationary, type 2a 9.9 PDE6H GNAT2
3 retinitis pigmentosa 44 9.8 CNGB3 CNGA3
4 choroid disease 9.8 CNGB3 CNGA3
5 scotoma 9.8 CNGB3 CNGA3
6 retinitis pigmentosa 26 9.8 CNGB3 CNGA3
7 congenital nystagmus 9.7 CNGB3 CNGA3
8 cycloplegia 9.7 PDE6H PDE6C GNAT2
9 choroideremia 9.7 CNGB3 CNGA3
10 leber congenital amaurosis 1 9.6 CNGB3 CNGA3
11 cone-rod dystrophy 8 9.5 GNAT2 CNGB3 CNGA3
12 prolonged electroretinal response suppression 9.5 GNAT2 CNGB3 CNGA3
13 enhanced s-cone syndrome 9.5 GNAT2 CNGB3 CNGA3
14 vitelliform macular dystrophy 9.5 CNGB3 CNGA3
15 retinoschisis 1, x-linked, juvenile 9.5 GNAT2 CNGB3 CNGA3
16 eye degenerative disease 9.5 GNAT2 CNGB3 CNGA3
17 stargardt disease 9.5 GNAT2 CNGB3 CNGA3
18 usher syndrome 9.4 GNAT2 CNGB3 CNGA3
19 macular degeneration, age-related, 1 9.4 GNAT2 CNGB3 CNGA3
20 eye disease 9.2 GNAT2 CNGB3 CNGA3
21 oligocone trichromacy 9.2 PDE6C GNAT2 CNGB3 CNGA3
22 colorblindness, partial, protan series 9.2 PDE6C GNAT2 CNGB3 CNGA3
23 jalili syndrome 9.2 PDE6C GNAT2 CNGB3 CNGA3
24 pathologic nystagmus 9.2 PDE6C GNAT2 CNGB3 CNGA3
25 congenital stationary night blindness 9.2 PDE6C GNAT2 CNGB3 CNGA3
26 red-green color blindness 9.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
27 color blindness 9.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
28 achromatopsia 2 9.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
29 tritanopia 9.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
30 achromatopsia 3 9.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
31 blue cone monochromacy 9.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
32 cone-rod dystrophy 6 9.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
33 cone dystrophy 9.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
34 leber plus disease 9.0 PDE6H PDE6C GNAT2 CNGB3 CNGA3
35 achromatopsia 8.8 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
36 achromatopsia 4 8.8 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
37 fundus dystrophy 8.7 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
38 cone-rod dystrophy 2 8.7 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
39 retinitis pigmentosa 8.7 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6

Graphical network of the top 20 diseases related to Achromatopsia 7:



Diseases related to Achromatopsia 7

Symptoms & Phenotypes for Achromatopsia 7

Human phenotypes related to Achromatopsia 7:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 photophobia 31 very rare (1%) HP:0000613
3 reduced visual acuity 31 very rare (1%) HP:0007663
4 hypoplasia of the fovea 31 very rare (1%) HP:0007750
5 macular atrophy 31 very rare (1%) HP:0007401
6 central scotoma 31 very rare (1%) HP:0000603
7 achromatopsia 31 very rare (1%) HP:0011516
8 absent foveal reflex 31 HP:0030825

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
central scotoma
decreased visual acuity
severe photophobia
absence of color discrimination
more

Clinical features from OMIM®:

616517 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Achromatopsia 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CNGA3 CNGB3 GNAT2 PDE6C PDE6H

Drugs & Therapeutics for Achromatopsia 7

Drugs for Achromatopsia 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Early Phase 1 56-81-5 753
2
carbamide peroxide Approved Early Phase 1 124-43-6
3 Protective Agents Early Phase 1
4 4-phenylbutyric acid Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Glycerol Phenylbutyrate (PBA) Use in Endoplasmic Reticulum Stress Reduction in ATF6-/- Patients Not yet recruiting NCT04041232 Early Phase 1 PBA

Search NIH Clinical Center for Achromatopsia 7

Genetic Tests for Achromatopsia 7

Genetic tests related to Achromatopsia 7:

# Genetic test Affiliating Genes
1 Achromatopsia 7 29 ATF6

Anatomical Context for Achromatopsia 7

MalaCards organs/tissues related to Achromatopsia 7:

40
Retina

Publications for Achromatopsia 7

Articles related to Achromatopsia 7:

# Title Authors PMID Year
1
Mutation of ATF6 causes autosomal recessive achromatopsia. 6 57
26063662 2015
2
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 6 57
26029869 2015

Variations for Achromatopsia 7

ClinVar genetic disease variations for Achromatopsia 7:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATF6 NM_007348.4(ATF6):c.355dup (p.Glu119Glyfs) Duplication Pathogenic 208171 rs869320751 GRCh37: 1:161761196-161761197
GRCh38: 1:161791406-161791407
2 ATF6 NM_007348.3:c.355_356dupG Duplication Pathogenic 217302 GRCh37:
GRCh38:
3 ATF6 NM_007348.4(ATF6):c.709C>T (p.Gln237Ter) SNV Pathogenic 801569 rs1571143590 GRCh37: 1:161771862-161771862
GRCh38: 1:161802072-161802072
4 ATF6 NM_007348.4(ATF6):c.353del (p.Pro118fs) Deletion Pathogenic 209097 rs797045171 GRCh37: 1:161753884-161753884
GRCh38: 1:161784094-161784094
5 ATF6 NM_007348.4(ATF6):c.1187+5G>C SNV Pathogenic 209098 rs761129859 GRCh37: 1:161790956-161790956
GRCh38: 1:161821166-161821166
6 ATF6 NM_007348.4(ATF6):c.82+5G>T SNV Pathogenic 209096 rs797045170 GRCh37: 1:161736237-161736237
GRCh38: 1:161766447-161766447
7 ATF6 NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) SNV Pathogenic 208172 rs761357250 GRCh37: 1:161789483-161789483
GRCh38: 1:161819693-161819693
8 ATF6 NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn) SNV Pathogenic 208176 rs796065053 GRCh37: 1:161833082-161833082
GRCh38: 1:161863292-161863292
9 ATF6 NM_007348.4(ATF6):c.1533+1G>C SNV Pathogenic 209099 rs797045172 GRCh37: 1:161823114-161823114
GRCh38: 1:161853324-161853324
10 ATF6 NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer) Duplication Pathogenic 209100 rs797045173 GRCh37: 1:161771947-161771948
GRCh38: 1:161802157-161802158
11 ATF6 NM_007348.4(ATF6):c.1110dup (p.Val371fs) Duplication Pathogenic 209101 rs797045174 GRCh37: 1:161790871-161790872
GRCh38: 1:161821081-161821082
12 ATF6 NM_007348.4(ATF6):c.3G>T (p.Met1Ile) SNV Pathogenic 977965 GRCh37: 1:161736153-161736153
GRCh38: 1:161766363-161766363
13 ATF6 NM_007348.4(ATF6):c.854A>G (p.Lys285Arg) SNV Likely pathogenic 977966 GRCh37: 1:161772007-161772007
GRCh38: 1:161802217-161802217
14 ATF6 NM_007348.4(ATF6):c.950G>A (p.Arg317Gln) SNV Likely pathogenic 977964 GRCh37: 1:161789463-161789463
GRCh38: 1:161819673-161819673
15 ATF6 NM_007348.4(ATF6):c.1784del (p.Leu595fs) Deletion Likely pathogenic 592152 rs1558022158 GRCh37: 1:161882149-161882149
GRCh38: 1:161912359-161912359
16 ATF6 NM_007348.4(ATF6):c.511del (p.Ile171fs) Deletion Likely pathogenic 800907 rs1571134523 GRCh37: 1:161761934-161761934
GRCh38: 1:161792144-161792144
17 ATF6 NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs) Insertion Uncertain significance 801570 rs1571184566 GRCh37: 1:161816240-161816241
GRCh38: 1:161846450-161846451
18 ATF6 NM_007348.4(ATF6):c.677C>A (p.Ala226Glu) SNV Uncertain significance 1031735 GRCh37: 1:161762106-161762106
GRCh38: 1:161792316-161792316
19 ATF6 NM_007348.4(ATF6):c.1191G>T (p.Met397Ile) SNV Likely benign 801571 rs1285628089 GRCh37: 1:161816242-161816242
GRCh38: 1:161846452-161846452
20 ATF6 NM_007348.4(ATF6):c.1434-3T>A SNV Benign 801572 rs2257107 GRCh37: 1:161823011-161823011
GRCh38: 1:161853221-161853221
21 ATF6 NM_007348.4(ATF6):c.199A>G (p.Met67Val) SNV Benign 801568 rs1058405 GRCh37: 1:161751741-161751741
GRCh38: 1:161781951-161781951

UniProtKB/Swiss-Prot genetic disease variations for Achromatopsia 7:

72
# Symbol AA change Variation ID SNP ID
1 ATF6 p.Arg324Cys VAR_075681 rs761357250
2 ATF6 p.Tyr567Asn VAR_075682 rs796065053

Expression for Achromatopsia 7

Search GEO for disease gene expression data for Achromatopsia 7.

Pathways for Achromatopsia 7

GO Terms for Achromatopsia 7

Cellular components related to Achromatopsia 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.16 GNAT2 CNGB3
2 photoreceptor outer segment membrane GO:0042622 8.96 PDE6H GNAT2
3 transmembrane transporter complex GO:1902495 8.62 CNGB3 CNGA3

Biological processes related to Achromatopsia 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.65 PDE6C GNAT2 CNGB3 CNGA3 ATF6
2 response to stimulus GO:0050896 9.35 PDE6H PDE6C GNAT2 CNGB3 CNGA3
3 cation transport GO:0006812 9.32 CNGB3 CNGA3
4 retinal cone cell development GO:0046549 9.16 PDE6C GNAT2
5 visual perception GO:0007601 9.1 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6

Molecular functions related to Achromatopsia 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.67 PDE6C 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 7

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
Content
Loading form....