MCID: ACH025
MIFTS: 16

Achromatopsia-4 malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Achromatopsia-4

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Aliases & Descriptions for Achromatopsia-4:

Name: Achromatopsia-4 46 9
 
Achromatopsia 4 46 20 22 61


Classifications:



External Ids:

OMIM46 613856

Summaries for Achromatopsia-4

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OMIM:46 Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total... (613856) more...

MalaCards based summary: Achromatopsia-4, is also known as achromatopsia 4, and has symptoms including autosomal recessive inheritance, visual impairment and photophobia. An important gene associated with Achromatopsia-4 is GNAT2 (guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2).

Related Diseases for Achromatopsia-4

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Diseases in the Achromatopsia family:

achromatopsia-4 Achromatopsia-2
Achromatopsia-3 Achromatopsia 5

Symptoms for Achromatopsia-4

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Clinical features from OMIM:

613856

HPO human phenotypes related to Achromatopsia-4:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 visual impairment HP:0000505
3 photophobia HP:0000613
4 nystagmus HP:0000639
5 rod monochromacy HP:0011516

Drugs & Therapeutics for Achromatopsia-4

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Drug clinical trials:

Search ClinicalTrials for Achromatopsia-4

Search 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 420 22 GNAT2

Anatomical Context for Achromatopsia-4

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Animal Models for Achromatopsia-4 or affiliated genes

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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)single nucleotide variantPathogenicrs121434585GRCh37Chr 1, 110152730: 110152730
2GNAT2GNAT2, 4-BP INS, 842TCAGinsertionPathogenic
3GNAT2GNAT2, NT285, 7-BP DEL/6-BP INSindelPathogenic
4GNAT2NM_005272.3(GNAT2): c.461+24G> Asingle nucleotide variantPathogenicrs397515384GRCh37Chr 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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Compounds for genes affiliated with Achromatopsia-4

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GO Terms for genes affiliated with Achromatopsia-4

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Sources for Achromatopsia-4

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet