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 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶

Achm7 ⁵⁷ ¹² ⁷⁵

Achromatopsia, Type 7 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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:

OMIM ⁵⁷ 616517

Disease Ontology ¹² DOID:0110009

MedGen ⁴² C4225297

MeSH ⁴⁴ D003117

SNOMED-CT via HPO ⁶⁹ 258211005 38950008 246622003 more

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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)

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 central scotoma 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 : ⁷⁵ 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	9.0	ATF6 LOC102724329

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Symptoms & Phenotypes for Achromatopsia 7

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

616517

Human phenotypes related to Achromatopsia 7:

³² (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	central scotoma ³²	very rare (1%)	HP:0000603
2	photophobia ³²	very rare (1%)	HP:0000613
3	nystagmus ³²	very rare (1%)	HP:0000639
4	macular atrophy ³²	very rare (1%)	HP:0007401
5	reduced visual acuity ³²	very rare (1%)	HP:0007663
6	hypoplasia of the fovea ³²	very rare (1%)	HP:0007750
7	achromatopsia ³²	very rare (1%)	HP:0011516

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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 ²⁹	ATF6

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Anatomical Context for Achromatopsia 7

MalaCards organs/tissues related to Achromatopsia 7:

⁴¹

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	1327.92	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26063662 20301591 26029869
2	LOC102724329	Uncharacterized LOC102724329	RNA Gene	7.32	GeneCards inferred via : Variants (show sections)

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Variations for Achromatopsia 7

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

⁷⁵

#	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 19)

#	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

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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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