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 57 12 75 29 6 15 73
Achm4 57 12 75
Achromatopsia, Type 4 40
Achromatopsia-4 13

Characteristics:

HPO:

32
achromatopsia 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613856
Disease Ontology 12 DOID:0110010
MedGen 42 C1841721
MeSH 44 D003117
UMLS 73 C1841721

Summaries for Achromatopsia 4

OMIM : 57 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 stargardt disease. 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 : 75 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

Clinical features from OMIM:

613856

Human phenotypes related to Achromatopsia 4:

32
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 visual impairment 32 HP:0000505
3 photophobia 32 HP:0000613
4 achromatopsia 32 HP:0011516

MGI Mouse Phenotypes related to Achromatopsia 4:

46
# 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 29 GNAT2

Anatomical Context for Achromatopsia 4

MalaCards organs/tissues related to Achromatopsia 4:

41
Retina, Eye

Publications for Achromatopsia 4

Variations for Achromatopsia 4

ClinVar genetic disease variations for Achromatopsia 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAT2 NM_005272.3(GNAT2): c.235C> T (p.Gln79Ter) single nucleotide variant Pathogenic rs121434585 GRCh37 Chromosome 1, 110152730: 110152730
2 GNAT2 NM_005272.3(GNAT2): c.235C> T (p.Gln79Ter) single nucleotide variant Pathogenic rs121434585 GRCh38 Chromosome 1, 109610108: 109610108
3 GNAT2 GNAT2, 4-BP INS, 842TCAG insertion Pathogenic
4 GNAT2 GNAT2, NT285, 7-BP DEL/6-BP INS indel Pathogenic
5 GNAT2 NM_005272.3(GNAT2): c.461+24G> A single nucleotide variant Pathogenic rs397515384 GRCh37 Chromosome 1, 110151229: 110151229
6 GNAT2 NM_005272.3(GNAT2): c.461+24G> A single nucleotide variant Pathogenic rs397515384 GRCh38 Chromosome 1, 109608607: 109608607
7 GNAT2 NM_005272.3(GNAT2): c.147C> T (p.Ile49=) single nucleotide variant Conflicting interpretations of pathogenicity rs146945932 GRCh37 Chromosome 1, 110153101: 110153101
8 GNAT2 NM_005272.3(GNAT2): c.147C> T (p.Ile49=) single nucleotide variant Conflicting interpretations of pathogenicity rs146945932 GRCh38 Chromosome 1, 109610479: 109610479
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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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