Optic Disc Anomalies with Retinal and/or Macular Dystrophy (ODRMD)

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Disease Ontology 12 DOID:0080635 OMIM 56 212550 KEGG 36 H02231 MeSH 43 D008850

ICD10 via Orphanet 33 Q14.8 Orphanet 58 ORPHA435930 MedGen 41 C1859311 C4225424 SNOMED-CT via HPO 68 128306009 193570009 204108000 238828009 23986001 247053007 258211005 314407005 39302008 42059000 563001 61142002 63251006 81756001 more

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

Clinical features from OMIM:

212550

Search Clinical Trials , NIH Clinical Center for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Search GEO for disease gene expression data for Optic Disc Anomalies with Retinal and/or Macular Dystrophy.