Achromatopsia 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110009

OMIM ⁵⁶ 616517

MeSH ⁴³ D003117

MedGen ⁴¹ C4225297

SNOMED-CT via HPO ⁶⁸ 102450007 13164000 238828009 more

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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.

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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:

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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

Sources

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

Synonyms:

1,2,3-propanetriol

1,2,3-Propanetriol

1,2,3-trihydroxypropane

1,2,3-Trihydroxypropane

Bulbold

Cristal

e 422

Emery 916

Glyceol opthalgan

Glycerin

Glycerin, anhydrous

Glycerin,anhydrous

Glycerine

glycérine

Glycerinum

Glyceritol

Glycerol

glycérol

Glycerolum

Glycyl alcohol

Glyrol

Glysanin

Glyzerin

Gro

IFP

Incorporation factor

Mackstat H 66

Monoctanoin component D

Oelsuess

Ölsüß

Osmoglyn

Pricerine 9091

Propanetriol

RG-S

Trihydroxypropane

Tryhydroxypropane

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

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Genetic Tests for Achromatopsia 7

Genetic tests related to Achromatopsia 7:

#	Genetic test	Affiliating Genes
1	Achromatopsia 7 ²⁹	ATF6

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Anatomical Context for Achromatopsia 7

MalaCards organs/tissues related to Achromatopsia 7:

⁴⁰

Retina

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Publications for Achromatopsia 7

Articles related to Achromatopsia 7:

#	Title	Authors	PMID	Year
1	Mutation of ATF6 causes autosomal recessive achromatopsia. ⁶ ⁵⁶	Ansar M...Leal SM	26063662	2015
2	Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. ⁵⁶ ⁶	Kohl S...Lin JH	26029869	2015
3	Achromatopsia ⁶	Kohl S...Zobor D	20301591	2004

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Genes for Achromatopsia 7

Genes related to Achromatopsia 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATF6	Activating Transcription Factor 6	Protein Coding	1323.29	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301591 26063662 26029869
2	PDE6H	Phosphodiesterase 6H	Protein Coding	7.44	DISEASES inferred ¹⁵
3	PDE6C	Phosphodiesterase 6C	Protein Coding	7.25	DISEASES inferred ¹⁵
4	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	7.1	DISEASES inferred ¹⁵
5	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	6.89	DISEASES inferred ¹⁵
6	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	6.86	DISEASES inferred ¹⁵

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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>T	SNV	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>C	SNV	Pathogenic	209098	rs761129859	1:161790956-161790956	1:161821166-161821166
9	ATF6	NM_007348.4(ATF6):c.1533+1G>C	SNV	Pathogenic	209099	rs797045172	1:161823114-161823114	1:161853324-161853324
10	ATF6	NM_007348.3:c.355_356dupG	duplication	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>A	SNV	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

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Expression for Achromatopsia 7

Search GEO for disease gene expression data for Achromatopsia 7.

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Pathways for Achromatopsia 7

Pathways related to Achromatopsia 7 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Phototransduction ³⁶ Show member pathways Activation of the phototransduction cascade ⁶⁵ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁵ The phototransduction cascade ⁶⁵ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.21	PDE6H PDE6C GNAT2 CNGB3 CNGA3
2	Non-Canonical Wnt Pathway ⁶⁶	11.11	PDE6H PDE6C
3	Visual Cycle in Retinal Rods ⁶³	11.1	GNAT2 CNGB3 CNGA3

Sources

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

Sources for Achromatopsia 7

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Achromatopsia 7 (ACHM7)

Aliases & Classifications for Achromatopsia 7

MalaCards integrated aliases for Achromatopsia 7:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Achromatopsia 7

Related Diseases for Achromatopsia 7

Diseases in the Achromatopsia family:

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

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

Symptoms & Phenotypes for Achromatopsia 7

Human phenotypes related to Achromatopsia 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

MGI Mouse Phenotypes related to Achromatopsia 7:

Drugs & Therapeutics for Achromatopsia 7

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

Interventional clinical trials:

Genetic Tests for Achromatopsia 7

Genetic tests related to Achromatopsia 7:

Anatomical Context for Achromatopsia 7

MalaCards organs/tissues related to Achromatopsia 7:

Publications for Achromatopsia 7

Articles related to Achromatopsia 7:

Genes for Achromatopsia 7

Genes related to Achromatopsia 7 (1 elite genes):

Variations for Achromatopsia 7

ClinVar genetic disease variations for Achromatopsia 7:

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

Expression for Achromatopsia 7

Pathways for Achromatopsia 7

Pathways related to Achromatopsia 7 according to GeneCards Suite gene sharing:

GO Terms for Achromatopsia 7

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

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

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

Sources for Achromatopsia 7