MCID: ACH038
MIFTS: 21

Achromatopsia 7

Categories: Genetic diseases, Eye diseases, Rare diseases

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:



External Ids:

OMIM 57 616517
Disease Ontology 12 DOID:0110009
MedGen 42 C4225297
MeSH 44 D003117

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.

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

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

Drugs & Therapeutics for Achromatopsia 7

Search Clinical Trials , 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:

41
Retina, Eye

Publications for Achromatopsia 7

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

Expression for Achromatopsia 7

Search GEO for disease gene expression data for Achromatopsia 7.

Pathways for Achromatopsia 7

GO Terms for Achromatopsia 7

Sources for Achromatopsia 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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72 Tocris
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74 UMLS via Orphanet
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