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 ⁵⁸ ¹² ⁷⁶ ³⁰ ⁶

Achm7 ⁵⁸ ¹² ⁷⁶

Achromatopsia, Type 7 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

achromatopsia 7:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110009

OMIM ⁵⁸ 616517

MeSH ⁴⁵ D003117

MedGen ⁴³ C4225297

SNOMED-CT via HPO ⁷⁰ 102450007 13164000 238828009 more

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Summaries for Achromatopsia 7

OMIM : ⁵⁸ 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 achromatopsia. An important gene associated with Achromatopsia 7 is ATF6 (Activating Transcription Factor 6). Affiliated tissues include retina and eye, 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 : ⁷⁶ 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:

#	Related Disease	Score	Top Affiliating Genes
1	achromatopsia	9.5	ATF6 LOC102724329

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Symptoms & Phenotypes for Achromatopsia 7

Human phenotypes related to Achromatopsia 7:

³³ (show all 8)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³³	very rare (1%)	HP:0000639
2	photophobia ³³	very rare (1%)	HP:0000613
3	reduced visual acuity ³³	very rare (1%)	HP:0007663
4	central scotoma ³³	very rare (1%)	HP:0000603
5	hypoplasia of the fovea ³³	very rare (1%)	HP:0007750
6	macular atrophy ³³	very rare (1%)	HP:0007401
7	achromatopsia ³³	very rare (1%)	HP:0011516
8	absent foveal reflex ³³		HP:0030825

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Clinical features from OMIM:

616517

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Drugs & Therapeutics for Achromatopsia 7

Search Clinical Trials , 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 ³⁰	ATF6

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Anatomical Context for Achromatopsia 7

MalaCards organs/tissues related to Achromatopsia 7:

⁴²

Retina, Eye

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Publications for Achromatopsia 7

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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	1327.75	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	20301591 26063662 26029869
2	LOC102724329	Uncharacterized LOC102724329	RNA Gene	7.23	GeneCards inferred via : Variants (show sections)

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Variations for Achromatopsia 7

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

⁷⁶

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

ClinVar genetic disease variations for Achromatopsia 7:

⁶ (show all 21)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ATF6	NM_007348.3(ATF6): c.355dupG (p.Glu119Glyfs)	duplication	Pathogenic	rs869320751	GRCh38	Chromosome 1, 161791408: 161791408
2	ATF6	NM_007348.3(ATF6): c.355dupG (p.Glu119Glyfs)	duplication	Pathogenic	rs869320751	GRCh37	Chromosome 1, 161761198: 161761198
3	ATF6	NM_007348.3(ATF6): c.970C> T (p.Arg324Cys)	single nucleotide variant	Pathogenic	rs761357250	GRCh37	Chromosome 1, 161789483: 161789483
4	ATF6	NM_007348.3(ATF6): c.970C> T (p.Arg324Cys)	single nucleotide variant	Pathogenic	rs761357250	GRCh38	Chromosome 1, 161819693: 161819693
5	ATF6	NM_007348.3(ATF6): c.1699T> A (p.Tyr567Asn)	single nucleotide variant	Pathogenic	rs796065053	GRCh38	Chromosome 1, 161863292: 161863292
6	ATF6	NM_007348.3(ATF6): c.1699T> A (p.Tyr567Asn)	single nucleotide variant	Pathogenic	rs796065053	GRCh37	Chromosome 1, 161833082: 161833082
7	ATF6	NM_007348.3(ATF6): c.82+5G> T	single nucleotide variant	Pathogenic	rs797045170	GRCh37	Chromosome 1, 161736237: 161736237
8	ATF6	NM_007348.3(ATF6): c.82+5G> T	single nucleotide variant	Pathogenic	rs797045170	GRCh38	Chromosome 1, 161766447: 161766447
9	ATF6	NM_007348.3(ATF6): c.353delC (p.Pro118Leufs)	deletion	Pathogenic	rs797045171	GRCh37	Chromosome 1, 161753885: 161753885
10	ATF6	NM_007348.3(ATF6): c.353delC (p.Pro118Leufs)	deletion	Pathogenic	rs797045171	GRCh38	Chromosome 1, 161784095: 161784095
11	ATF6	NM_007348.3(ATF6): c.797dupC (p.Asn267Terfs)	duplication	Pathogenic	rs797045173	GRCh37	Chromosome 1, 161771950: 161771950
12	ATF6	NM_007348.3(ATF6): c.797dupC (p.Asn267Terfs)	duplication	Pathogenic	rs797045173	GRCh38	Chromosome 1, 161802160: 161802160
13	ATF6	NM_007348.3(ATF6): c.1110dupA (p.Val371Serfs)	duplication	Pathogenic	rs797045174	GRCh37	Chromosome 1, 161790874: 161790874
14	ATF6	NM_007348.3(ATF6): c.1110dupA (p.Val371Serfs)	duplication	Pathogenic	rs797045174	GRCh38	Chromosome 1, 161821084: 161821084
15	ATF6	NM_007348.3(ATF6): c.1187+5G> C	single nucleotide variant	Pathogenic	rs761129859	GRCh37	Chromosome 1, 161790956: 161790956
16	ATF6	NM_007348.3(ATF6): c.1187+5G> C	single nucleotide variant	Pathogenic	rs761129859	GRCh38	Chromosome 1, 161821166: 161821166
17	ATF6	NM_007348.3(ATF6): c.1533+1G> C	single nucleotide variant	Pathogenic	rs797045172	GRCh37	Chromosome 1, 161823114: 161823114
18	ATF6	NM_007348.3(ATF6): c.1533+1G> C	single nucleotide variant	Pathogenic	rs797045172	GRCh38	Chromosome 1, 161853324: 161853324
19	ATF6	NM_007348.3: c.355_356dupG	duplication	Pathogenic
20	ATF6	NM_007348.4(ATF6): c.1784del (p.Leu595Tyrfs)	deletion	Likely pathogenic		GRCh38	Chromosome 1, 161912360: 161912360
21	ATF6	NM_007348.4(ATF6): c.1784del (p.Leu595Tyrfs)	deletion	Likely pathogenic		GRCh37	Chromosome 1, 161882150: 161882150

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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

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GO Terms for Achromatopsia 7

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

Symptoms & Phenotypes for Achromatopsia 7

Human phenotypes related to Achromatopsia 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Achromatopsia 7

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

Genes for Achromatopsia 7

Genes related to Achromatopsia 7 (1 elite genes):

Variations for Achromatopsia 7

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

ClinVar genetic disease variations for Achromatopsia 7:

Expression for Achromatopsia 7

Pathways for Achromatopsia 7

GO Terms for Achromatopsia 7

Sources for Achromatopsia 7