ACHM7
MCID: ACH038
MIFTS: 39

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 56 12 73 29 6 15
Achm7 56 12 73
Achromatopsia, Type 7 39

Characteristics:

OMIM:

56
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 56 616517
MeSH 43 D003117
MedGen 41 C4225297

Summaries for Achromatopsia 7

OMIM : 56 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)

MalaCards based summary : Achromatopsia 7, also known as achm7, is related to retinitis pigmentosa 44 and choroid disease. An important gene associated with Achromatopsia 7 is ATF6 (Activating Transcription Factor 6), and among its related pathways/superpathways are Phototransduction and Non-Canonical Wnt Pathway. The drugs Glycerol and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include retina, and related phenotypes are photophobia and nystagmus

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 : 73 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 31)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 44 9.6 CNGB3 CNGA3
2 choroid disease 9.5 CNGB3 CNGA3
3 scotoma 9.5 CNGB3 CNGA3
4 congenital nystagmus 9.5 CNGB3 CNGA3
5 choroideremia 9.4 CNGB3 CNGA3
6 cone-rod dystrophy 8 9.2 GNAT2 CNGB3 CNGA3
7 prolonged electroretinal response suppression 9.2 GNAT2 CNGB3 CNGA3
8 enhanced s-cone syndrome 9.2 GNAT2 CNGB3 CNGA3
9 retinoschisis 1, x-linked, juvenile 9.2 GNAT2 CNGB3 CNGA3
10 leber congenital amaurosis 1 9.2 GNAT2 CNGB3 CNGA3
11 stargardt disease 9.1 GNAT2 CNGB3 CNGA3
12 eye degenerative disease 9.1 GNAT2 CNGB3 CNGA3
13 cone dystrophy 9.0 PDE6H PDE6C CNGB3 CNGA3
14 oligocone trichromacy 8.9 PDE6C GNAT2 CNGB3 CNGA3
15 red-green color blindness 8.9 PDE6C GNAT2 CNGB3 CNGA3
16 colorblindness, partial, protan series 8.9 PDE6C GNAT2 CNGB3 CNGA3
17 jalili syndrome 8.9 PDE6C GNAT2 CNGB3 CNGA3
18 congenital stationary night blindness 8.8 PDE6C GNAT2 CNGB3 CNGA3
19 macular degeneration, age-related, 1 8.8 GNAT2 CNGB3 CNGA3
20 cone-rod dystrophy 2 8.6 PDE6H GNAT2 CNGB3 CNGA3 ATF6
21 achromatopsia 2 8.6 PDE6H PDE6C GNAT2 CNGB3 CNGA3
22 achromatopsia 3 8.6 PDE6H PDE6C GNAT2 CNGB3 CNGA3
23 blue cone monochromacy 8.5 PDE6H PDE6C GNAT2 CNGB3 CNGA3
24 color blindness 8.5 PDE6H PDE6C GNAT2 CNGB3 CNGA3
25 cone-rod dystrophy 6 8.5 PDE6H PDE6C GNAT2 CNGB3 CNGA3
26 pathologic nystagmus 8.5 PDE6H PDE6C GNAT2 CNGB3 CNGA3
27 leber plus disease 8.5 PDE6H PDE6C GNAT2 CNGB3 CNGA3
28 achromatopsia 8.3 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
29 achromatopsia 4 8.2 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
30 fundus dystrophy 8.2 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
31 retinitis pigmentosa 8.1 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 photophobia 31 very rare (1%) HP:0000613
2 nystagmus 31 very rare (1%) HP:0000639
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:

56
Head And Neck Eyes:
nystagmus
central scotoma
decreased visual acuity
severe photophobia
absence of color discrimination
more

Clinical features from OMIM:

616517

GenomeRNAi Phenotypes related to Achromatopsia 7 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.5 CNGA3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.5 CNGA3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-12 9.5 ATF6
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 9.5 ATF6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-129 9.5 ATF6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.5 ATF6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.5 ATF6
8 Synthetic lethal with imatinib mesylate GR00181-A 8.62 PDE6C PDE6H

MGI Mouse Phenotypes related to Achromatopsia 7:

45
# 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 4-phenylbutyric acid Early Phase 1
4 Protective Agents 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 56
26063662 2015
2
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 56 6
26029869 2015
3
Achromatopsia 6
20301591 2004

Variations for Achromatopsia 7

ClinVar genetic disease variations for Achromatopsia 7:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATF6 NM_007348.4(ATF6):c.355dup (p.Glu119Glyfs)duplication Pathogenic 208171 rs869320751 1:161761196-161761197 1:161791406-161791407
2 ATF6 NM_007348.4(ATF6):c.970C>T (p.Arg324Cys)SNV Pathogenic 208172 rs761357250 1:161789483-161789483 1:161819693-161819693
3 ATF6 NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn)SNV Pathogenic 208176 rs796065053 1:161833082-161833082 1:161863292-161863292
4 ATF6 NM_007348.4(ATF6):c.82+5G>TSNV Pathogenic 209096 rs797045170 1:161736237-161736237 1:161766447-161766447
5 ATF6 NM_007348.4(ATF6):c.353del (p.Pro118fs)deletion Pathogenic 209097 rs797045171 1:161753884-161753884 1:161784094-161784094
6 ATF6 NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer)duplication Pathogenic 209100 rs797045173 1:161771947-161771948 1:161802157-161802158
7 ATF6 NM_007348.4(ATF6):c.1110dup (p.Val371fs)duplication Pathogenic 209101 rs797045174 1:161790871-161790872 1:161821081-161821082
8 ATF6 NM_007348.4(ATF6):c.1187+5G>CSNV Pathogenic 209098 rs761129859 1:161790956-161790956 1:161821166-161821166
9 ATF6 NM_007348.4(ATF6):c.1533+1G>CSNV Pathogenic 209099 rs797045172 1:161823114-161823114 1:161853324-161853324
10 ATF6 NM_007348.3:c.355_356dupGduplication Pathogenic 217302
11 ATF6 NM_007348.4(ATF6):c.709C>T (p.Gln237Ter)SNV Pathogenic 801569 1:161771862-161771862 1:161802072-161802072
12 ATF6 NM_007348.4(ATF6):c.1784del (p.Leu595fs)deletion Likely pathogenic 592152 rs1558022158 1:161882149-161882149 1:161912359-161912359
13 ATF6 NM_007348.4(ATF6):c.511del (p.Ile171fs)deletion Likely pathogenic 800907 1:161761934-161761934 1:161792144-161792144
14 ATF6 NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs)insertion Uncertain significance 801570 1:161816240-161816241 1:161846450-161846451
15 ATF6 NM_007348.4(ATF6):c.1191G>T (p.Met397Ile)SNV Likely benign 801571 1:161816242-161816242 1:161846452-161846452
16 ATF6 NM_007348.4(ATF6):c.1434-3T>ASNV Benign 801572 1:161823011-161823011 1:161853221-161853221
17 ATF6 NM_007348.4(ATF6):c.199A>G (p.Met67Val)SNV Benign 801568 1:161751741-161751741 1:161781951-161781951

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

73
# 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
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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