ACHM4
MCID: ACH025
MIFTS: 33

Achromatopsia-4 (ACHM4) malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Achromatopsia-4

Aliases & Descriptions for Achromatopsia-4:

Name: Achromatopsia-4 54 13
Achromatopsia 4 12 24 66 29 14 69
Achm4 12 66
an Achromatopsia That Has Material Basis in Homozygous or Compound Heterozygous Mutation in the Gnat2 Gene (139340) on Chromosome 1p13. 12

Characteristics:

HPO:

32
achromatopsia-4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613856
Disease Ontology 12 DOID:0110010
MedGen 40 C1841721
MeSH 42 D003117

Summaries for Achromatopsia-4

OMIM : 54 Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total... (613856) more...

MalaCards based summary : Achromatopsia-4, also known as achromatopsia 4, is related to achromatopsia-2 and retinitis pigmentosa 19, and has symptoms including photophobia, nystagmus and visual impairment. 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 phenotype is vision/eye.

UniProtKB/Swiss-Prot : 66 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
id Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 nystagmus 32 HP:0000639
3 visual impairment 32 HP:0000505
4 achromatopsia 32 HP:0011516

MGI Mouse Phenotypes related to Achromatopsia-4:

44
id 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:

id Genetic test Affiliating Genes
1 Achromatopsia 4 29 24 GNAT2

Anatomical Context for Achromatopsia-4

MalaCards organs/tissues related to Achromatopsia-4:

39
Retina, Eye

Publications for Achromatopsia-4

Variations for Achromatopsia-4

ClinVar genetic disease variations for Achromatopsia-4:

6
id 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 GNAT2, 4-BP INS, 842TCAG insertion Pathogenic
3 GNAT2 GNAT2, NT285, 7-BP DEL/6-BP INS indel Pathogenic
4 GNAT2 NM_005272.3(GNAT2): c.461+24G> A single nucleotide variant Pathogenic rs397515384 GRCh37 Chromosome 1, 110151229: 110151229

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:

id Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.16 CNGB3 GNAT2
2 photoreceptor outer segment membrane GO:0042622 8.96 CNGA3 GNAT2
3 transmembrane transporter complex GO:1902495 8.62 CNGA3 CNGB3

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

id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.61 CNGA3 CNGB3 GNAT2
2 regulation of ion transmembrane transport GO:0034765 9.4 CNGA3 CNGB3
3 potassium ion transmembrane transport GO:0071805 9.37 CNGA3 CNGB3
4 regulation of membrane potential GO:0042391 9.32 CNGA3 CNGB3
5 cation transmembrane transport GO:0098655 9.26 CNGA3 CNGB3
6 cation transport GO:0006812 9.16 CNGA3 CNGB3
7 response to stimulus GO:0050896 9.13 CNGA3 CNGB3 GNAT2
8 visual perception GO:0007601 8.8 CNGA3 CNGB3 GNAT2

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel activity GO:0005249 9.16 CNGA3 CNGB3
2 cGMP binding GO:0030553 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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