ODRMD
MCID: OPT058
MIFTS: 30
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Optic Disc Anomalies with Retinal and/or Macular Dystrophy (ODRMD)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Optic Disc Anomalies with Retinal and/or Macular Dystrophy:
Characteristics:Orphanet epidemiological data:58
colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; HPO:31
optic disc anomalies with retinal and/or macular dystrophy:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Neuronal diseases
ICD10:
33
Orphanet: 58
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KEGG :
36
Optic disc anomalies with retinal and/or macular dystrophy (ODRMD) is an autosomal recessive ocular disorder. It has been reported that a homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
MalaCards based summary : Optic Disc Anomalies with Retinal and/or Macular Dystrophy, also known as colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, is related to trichohepatoenteric syndrome 2 and gastrointestinal defects and immunodeficiency syndrome. An important gene associated with Optic Disc Anomalies with Retinal and/or Macular Dystrophy is SIX6 (SIX Homeobox 6), and among its related pathways/superpathways is Deadenylation-dependent mRNA decay. Affiliated tissues include eye, and related phenotypes are glaucoma and retinal detachment Disease Ontology : 12 A microphthalmia that has material basis in homozygous mutation in the SIX6 gene on chromosome 14q23. UniProtKB/Swiss-Prot : 73 Optic disk anomalies with retinal and/or macular dystrophy: An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia.
More information from OMIM:
212550
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Diseases related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:![]() |
Human phenotypes related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:31 (show all 11)
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MalaCards organs/tissues related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:40
Eye
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Articles related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:
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ClinVar genetic disease variations for Optic Disc Anomalies with Retinal and/or Macular Dystrophy:6
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Search
GEO
for disease gene expression data for Optic Disc Anomalies with Retinal and/or Macular Dystrophy.
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Cellular components related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy according to GeneCards Suite gene sharing:
Biological processes related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy according to GeneCards Suite gene sharing:
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