ACHM4
MCID: ACH023
MIFTS: 32

Achromatopsia 4 (ACHM4)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Achromatopsia 4

MalaCards integrated aliases for Achromatopsia 4:

Name: Achromatopsia 4 58 12 76 30 6 15 74
Achm4 58 12 76
Achromatopsia, Type 4 41
Achromatopsia-4 13

Characteristics:

HPO:

33
achromatopsia 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110010
OMIM 58 613856
MeSH 45 D003117
MedGen 43 C1841721
UMLS 74 C1841721

Summaries for Achromatopsia 4

OMIM : 58 Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus (Kohl et al., 2002). For a general description and a discussion of genetic heterogeneity of achromatopsia, see 216900. (613856)

MalaCards based summary : Achromatopsia 4, also known as achm4, is related to achromatopsia and achromatopsia 2. An important gene associated with Achromatopsia 4 is GNAT2 (G Protein Subunit Alpha Transducin 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and CREB Pathway. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment

Disease Ontology : 12 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13.

UniProtKB/Swiss-Prot : 76 Achromatopsia 4: 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 4

Graphical network of the top 20 diseases related to Achromatopsia 4:



Diseases related to Achromatopsia 4

Symptoms & Phenotypes for Achromatopsia 4

Human phenotypes related to Achromatopsia 4:

33
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 visual impairment 33 HP:0000505
3 photophobia 33 HP:0000613
4 achromatopsia 33 HP:0011516

Clinical features from OMIM:

613856

MGI Mouse Phenotypes related to Achromatopsia 4:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 CNGA3 CNGB3 GNAT2

Drugs & Therapeutics for Achromatopsia 4

Search Clinical Trials , NIH Clinical Center for Achromatopsia 4

Genetic Tests for Achromatopsia 4

Genetic tests related to Achromatopsia 4:

# Genetic test Affiliating Genes
1 Achromatopsia 4 30 GNAT2

Anatomical Context for Achromatopsia 4

MalaCards organs/tissues related to Achromatopsia 4:

42
Retina, Eye

Publications for Achromatopsia 4

Variations for Achromatopsia 4

ClinVar genetic disease variations for Achromatopsia 4:

6 (show all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAT2 NM_005272.3(GNAT2): c.147C> T (p.Ile49=) single nucleotide variant Conflicting interpretations of pathogenicity rs146945932 GRCh37 Chromosome 1, 110153101: 110153101
2 GNAT2 NM_005272.3(GNAT2): c.147C> T (p.Ile49=) single nucleotide variant Conflicting interpretations of pathogenicity rs146945932 GRCh38 Chromosome 1, 109610479: 109610479
3 GNAT2 NM_005272.3(GNAT2): c.235C> T (p.Gln79Ter) single nucleotide variant Pathogenic rs121434585 GRCh37 Chromosome 1, 110152730: 110152730
4 GNAT2 NM_005272.3(GNAT2): c.235C> T (p.Gln79Ter) single nucleotide variant Pathogenic rs121434585 GRCh38 Chromosome 1, 109610108: 109610108
5 GNAT2 GNAT2, 4-BP INS, 842TCAG insertion Pathogenic
6 GNAT2 GNAT2, NT285, 7-BP DEL/6-BP INS indel Pathogenic
7 GNAT2 NM_005272.3(GNAT2): c.461+24G> A single nucleotide variant Conflicting interpretations of pathogenicity rs397515384 GRCh37 Chromosome 1, 110151229: 110151229
8 GNAT2 NM_005272.3(GNAT2): c.461+24G> A single nucleotide variant Conflicting interpretations of pathogenicity rs397515384 GRCh38 Chromosome 1, 109608607: 109608607
9 GNAT2 NM_005272.3(GNAT2): c.481C> T (p.Arg161Ter) single nucleotide variant Likely pathogenic rs745308973 GRCh38 Chromosome 1, 109606417: 109606417
10 GNAT2 NM_005272.3(GNAT2): c.481C> T (p.Arg161Ter) single nucleotide variant Likely pathogenic rs745308973 GRCh37 Chromosome 1, 110149039: 110149039
11 GNAT2 NM_005272.3: c.955delA deletion Pathogenic GRCh38 Chromosome 1, 109603466: 109603466
12 GNAT2 NM_005272.3: c.955delA deletion Pathogenic GRCh37 Chromosome 1, 110146086: 110146086
13 GNAT2 NM_005272.3(GNAT2): c.943G> A (p.Asp315Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 109603476: 109603476
14 GNAT2 NM_005272.3(GNAT2): c.943G> A (p.Asp315Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 110146098: 110146098
15 GNAT2 NM_005272.3(GNAT2): c.937C> T (p.Arg313Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 109603482: 109603482
16 GNAT2 NM_005272.3(GNAT2): c.937C> T (p.Arg313Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 110146104: 110146104
17 GNAT2 NM_005272.3(GNAT2): c.886T> C (p.Tyr296His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 109603533: 109603533
18 GNAT2 NM_005272.3(GNAT2): c.886T> C (p.Tyr296His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 110146155: 110146155
19 GNAT2 NM_005272.3: c.811_813delAAG undetermined variant Likely pathogenic GRCh38 Chromosome 1, 109604012: 109604014
20 GNAT2 NM_005272.3(GNAT2): c.803_806dup (p.Lys270Glnfs) duplication Pathogenic GRCh38 Chromosome 1, 109604019: 109604022
21 GNAT2 NM_005272.3(GNAT2): c.803_806dup (p.Lys270Glnfs) duplication Pathogenic GRCh37 Chromosome 1, 110146641: 110146644
22 GNAT2 NM_005272.3(GNAT2): c.724C> T (p.Arg242Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 109604101: 109604101
23 GNAT2 NM_005272.3(GNAT2): c.724C> T (p.Arg242Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 110146723: 110146723
24 GNAT2 NM_005272.3(GNAT2): c.623G> C (p.Arg208Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 109606067: 109606067
25 GNAT2 NM_005272.3(GNAT2): c.623G> C (p.Arg208Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 110148689: 110148689
26 GNAT2 NM_005272.3(GNAT2): c.620A> T (p.Glu207Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 109606070: 109606070
27 GNAT2 NM_005272.3(GNAT2): c.620A> T (p.Glu207Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 110148692: 110148692
28 GNAT2 NM_005272.3(GNAT2): c.593T> A (p.Met198Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 109606097: 109606097
29 GNAT2 NM_005272.3(GNAT2): c.593T> A (p.Met198Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 110148719: 110148719
30 GNAT2 NM_005272.3(GNAT2): c.503dup (p.Ser170Terfs) duplication Pathogenic GRCh38 Chromosome 1, 109606395: 109606395
31 GNAT2 NM_005272.3(GNAT2): c.503dup (p.Ser170Terfs) duplication Pathogenic GRCh37 Chromosome 1, 110149017: 110149017
32 GNAT2 NC_000001.10: g.110150279_110152297del deletion Pathogenic GRCh37 Chromosome 1, 110150279: 110152297
33 GNAT2 NC_000001.10: g.110150279_110152297del deletion Pathogenic GRCh38 Chromosome 1, 109607813: 109609831
34 GNAT2 NC_000001.10: g.110150279_110152297dup duplication Pathogenic GRCh38 Chromosome 1, 109607813: 109609831
35 GNAT2 NC_000001.10: g.110150279_110152297dup duplication Pathogenic GRCh37 Chromosome 1, 110150279: 110152297
36 GNAT2 NM_005272.3(GNAT2): c.313C> T (p.Arg105Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 109608779: 109608779
37 GNAT2 NM_005272.3(GNAT2): c.313C> T (p.Arg105Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 110151401: 110151401
38 GNAT2 NM_005272.3(GNAT2): c.285_291delTGCTGAAinsCTGTAT (p.Ala96Cysfs) indel Pathogenic GRCh38 Chromosome 1, 109610052: 109610058
39 GNAT2 NM_005272.3(GNAT2): c.285_291delTGCTGAAinsCTGTAT (p.Ala96Cysfs) indel Pathogenic GRCh37 Chromosome 1, 110152674: 110152680
40 GNAT2 NM_005272.3(GNAT2): c.139A> G (p.Ser47Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 109610487: 109610487
41 GNAT2 NM_005272.3(GNAT2): c.139A> G (p.Ser47Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 110153109: 110153109
42 GNAT2 NM_005272.3(GNAT2): c.107T> G (p.Leu36Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 109612764: 109612764
43 GNAT2 NM_005272.3(GNAT2): c.107T> G (p.Leu36Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 110155386: 110155386
44 GNAT2 NM_005272.3(GNAT2): c.720+2T> C single nucleotide variant Pathogenic GRCh37 Chromosome 1, 110148590: 110148590
45 GNAT2 NM_005272.3(GNAT2): c.720+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 1, 109605968: 109605968
46 GNAT2 NM_005272.3(GNAT2): c.591-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 1, 109606101: 109606101
47 GNAT2 NM_005272.3(GNAT2): c.591-2A> C single nucleotide variant Pathogenic GRCh37 Chromosome 1, 110148723: 110148723

Expression for Achromatopsia 4

Search GEO for disease gene expression data for Achromatopsia 4.

Pathways for Achromatopsia 4

GO Terms for Achromatopsia 4

Cellular components related to Achromatopsia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 CNGB3 GNAT2
2 transmembrane transporter complex GO:1902495 8.62 CNGA3 CNGB3

Biological processes related to Achromatopsia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.43 CNGA3 CNGB3 GNAT2
2 cation transport GO:0006812 9.16 CNGA3 CNGB3
3 response to stimulus GO:0050896 9.13 CNGA3 CNGB3 GNAT2
4 visual perception GO:0007601 8.8 CNGA3 CNGB3 GNAT2

Molecular functions related to Achromatopsia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.16 CNGA3 CNGB3
2 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGA3 CNGB3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGA3 CNGB3

Sources for Achromatopsia 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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