ACHM4
MCID: ACH025
MIFTS: 33

Achromatopsia-4 (ACHM4) malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Achromatopsia-4

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Aliases & Descriptions for Achromatopsia-4:

Name: Achromatopsia-4 52 12
Achromatopsia 4 11 24 70 27 13 68
 
Achm4 11 70
an Achromatopsia That Has Material Basis in Homozygous or Compound Heterozygous Mutation in the Gnat2 Gene (139340) on Chromosome 1p13. 11

Characteristics:

HPO:

64
achromatopsia-4:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613856
Disease Ontology11 DOID:0110010
MedGen37 C1841721
MeSH39 D003117

Summaries for Achromatopsia-4

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OMIM:52 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 visual impairment, photophobia and nystagmus. An important gene associated with Achromatopsia-4 is GNAT2 (G Protein Subunit Alpha Transducin 2), and among its related pathways are cAMP signaling pathway and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include retina and eye, and related mouse phenotype vision/eye.

UniProtKB/Swiss-Prot:70 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

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Graphical network of diseases related to Achromatopsia-4:



Diseases related to achromatopsia-4

Symptoms & Phenotypes for Achromatopsia-4

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Clinical features from OMIM:

613856

Human phenotypes related to Achromatopsia-4:

 64
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 photophobia64 HP:0000613
3 nystagmus64 HP:0000639
4 achromatopsia64 HP:0011516

MGI Mouse Phenotypes related to Achromatopsia-4 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5CNGA3, CNGB3, GNAT2

Drugs & Therapeutics for Achromatopsia-4

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Achromatopsia-4

Genetic Tests for Achromatopsia-4

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Genetic tests related to Achromatopsia-4:

id Genetic test Affiliating Genes
1 Achromatopsia 427 24 GNAT2

Anatomical Context for Achromatopsia-4

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MalaCards organs/tissues related to Achromatopsia-4:

36
Retina, Eye

Publications for Achromatopsia-4

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Variations for Achromatopsia-4

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Clinvar genetic disease variations for Achromatopsia-4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GNAT2NM_ 005272.3(GNAT2): c.235C> T (p.Gln79Ter)SNVPathogenicrs121434585GRCh37Chr 1, 110152730: 110152730
2GNAT2GNAT2, 4-BP INS, 842TCAGinsertionPathogenic
3GNAT2GNAT2, NT285, 7-BP DEL/6-BP INSindelPathogenic
4GNAT2NM_ 005272.3(GNAT2): c.461+24G> ASNVPathogenicrs397515384GRCh37Chr 1, 110151229: 110151229

Expression for genes affiliated with Achromatopsia-4

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Search GEO for disease gene expression data for Achromatopsia-4.

Pathways for genes affiliated with Achromatopsia-4

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GO Terms for genes affiliated with Achromatopsia-4

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00017509.7CNGB3, GNAT2
2transmembrane transporter complexGO:19024959.1CNGA3, CNGB3
3photoreceptor outer segment membraneGO:00426229.0CNGA3, GNAT2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cation transmembrane transportGO:00986559.9CNGA3, CNGB3
2cation transportGO:00068129.9CNGA3, CNGB3
3potassium ion transmembrane transportGO:00718059.9CNGA3, CNGB3
4regulation of ion transmembrane transportGO:00347659.9CNGA3, CNGB3
5regulation of membrane potentialGO:00423919.9CNGA3, CNGB3
6response to stimulusGO:00508969.3CNGA3, CNGB3, GNAT2
7signal transductionGO:00071659.1CNGA3, CNGB3, GNAT2
8visual perceptionGO:00076018.5CNGA3, CNGB3, GNAT2

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

idNameGO IDScoreTop Affiliating Genes
1cGMP bindingGO:00305539.6CNGA3, CNGB3
2intracellular cGMP activated cation channel activityGO:00052239.6CNGA3, CNGB3
3voltage-gated potassium channel activityGO:00052499.1CNGA3, CNGB3

Sources for Achromatopsia-4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet