ACHM7
MCID: ACH038
MIFTS: 39
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Achromatopsia 7 (ACHM7)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Achromatopsia 7:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
symptoms present from infancy or early childhood nonprogressive in most patients HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases |
OMIM :
56
Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by Kohl et al., 2015).
For a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (216900). (616517)
MalaCards based summary : Achromatopsia 7, also known as achm7, is related to retinitis pigmentosa 44 and choroid disease. An important gene associated with Achromatopsia 7 is ATF6 (Activating Transcription Factor 6), and among its related pathways/superpathways are Phototransduction and Non-Canonical Wnt Pathway. The drugs Glycerol and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include retina, and related phenotypes are photophobia and nystagmus Disease Ontology : 12 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. UniProtKB/Swiss-Prot : 73 Achromatopsia 7: A form of achromatopsia, 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. |
Human phenotypes related to Achromatopsia 7:31 (show all 8)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616517GenomeRNAi Phenotypes related to Achromatopsia 7 according to GeneCards Suite gene sharing:26
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Drugs for Achromatopsia 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Achromatopsia 7:40
Retina
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Articles related to Achromatopsia 7:
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ClinVar genetic disease variations for Achromatopsia 7:6 (show all 17)
UniProtKB/Swiss-Prot genetic disease variations for Achromatopsia 7:73
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Search
GEO
for disease gene expression data for Achromatopsia 7.
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Cellular components related to Achromatopsia 7 according to GeneCards Suite gene sharing:
Biological processes related to Achromatopsia 7 according to GeneCards Suite gene sharing:
Molecular functions related to Achromatopsia 7 according to GeneCards Suite gene sharing:
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