MCID: ACH025
MIFTS: 21

Achromatopsia-4 malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Achromatopsia-4

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Aliases & Descriptions for Achromatopsia-4:

Name: Achromatopsia-4 49 11
Achromatopsia 4 22 67 24 65
 
Achm4 67

Characteristics:

HPO:

61
achromatopsia-4:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 613856
MedGen34 C1841721
MeSH36 D003117
UMLS65 C1841721

Summaries for Achromatopsia-4

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OMIM:49 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 ovarian hyperstimulation syndrome and achromatopsia-2, 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:67 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
1ovarian hyperstimulation syndrome10.4
2achromatopsia-210.4

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 visual impairment HP:0000505
2 photophobia HP:0000613
3 nystagmus HP:0000639
4 achromatopsia 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 422 GNAT2

Anatomical Context for Achromatopsia-4

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MalaCards organs/tissues related to Achromatopsia-4:

33
Retina, Eye

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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GO Terms for genes affiliated with Achromatopsia-4

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Sources for Achromatopsia-4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet