MCID: ACH025
MIFTS: 22

Achromatopsia-4 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 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 achromatopsia, and has symptoms including visual impairment, photophobia and nystagmus. An important gene associated with Achromatopsia-4 is GNAT2 (G Protein Subunit Alpha Transducin 2). Affiliated tissues include retina and 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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Diseases in the Achromatopsia family:

achromatopsia-4 Achromatopsia 7
Achromatopsia-2 Achromatopsia-3
Achromatopsia 5

Diseases related to Achromatopsia-4 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1achromatopsia-210.9
2achromatopsia9.9

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

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, 842TCAGinsertionPathogenicChr na, -1: -1
3GNAT2GNAT2, NT285, 7-BP DEL/6-BP INSindelPathogenicChr na, -1: -1
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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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