ODRMD
MCID: OPT058
MIFTS: 31

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

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

MalaCards integrated aliases for Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

Name: Optic Disc Anomalies with Retinal and/or Macular Dystrophy 56 12 36 15 39
Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome 58 29 6
Odrmd 56 73
Optic Disk Anomalies with Retinal and/or Macular Dystrophy 73

Characteristics:

Orphanet epidemiological data:

58
colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
optic disc anomalies with retinal and/or macular dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

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

Related Diseases for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Diseases related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 trichohepatoenteric syndrome 2 9.8 TTC37 SKIV2L
2 gastrointestinal defects and immunodeficiency syndrome 9.7 TTC37 SKIV2L
3 diarrhea 5, with tufting enteropathy, congenital 9.7 TTC37 SKIV2L
4 congenital diarrhea 9.7 TTC37 SKIV2L
5 diarrhea 2, with microvillus atrophy 9.6 TTC37 SKIV2L
6 familial woolly hair syndrome 9.4 TTC37 SKIV2L
7 trichohepatoenteric syndrome 1 9.4 TTC37 SKIV2L DNAI2

Graphical network of the top 20 diseases related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:



Diseases related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Symptoms & Phenotypes for 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)
# Description HPO Frequency HPO Source Accession
1 glaucoma 31 occasional (7.5%) HP:0000501
2 retinal detachment 31 occasional (7.5%) HP:0000541
3 iris coloboma 31 occasional (7.5%) HP:0000612
4 chorioretinal coloboma 31 occasional (7.5%) HP:0000567
5 cataract 31 HP:0000518
6 nystagmus 31 HP:0000639
7 microphthalmia 31 HP:0000568
8 miosis 31 HP:0000616
9 retinal dystrophy 31 HP:0000556
10 horizontal nystagmus 31 HP:0000666
11 macular atrophy 31 HP:0007401

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
retinal dystrophy
horizontal nystagmus
chorioretinal coloboma (rare)
retinal detachment (rare)
microphthalmia (in some patients)
more

Clinical features from OMIM:

212550

Drugs & Therapeutics for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

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

Genetic Tests for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Genetic tests related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

# Genetic test Affiliating Genes
1 Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome 29 SIX6

Anatomical Context for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

MalaCards organs/tissues related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

40
Eye

Publications for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Articles related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

# Title Authors PMID Year
1
A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation. 6 56
24702266 2015
2
Homozygous truncation of SIX6 causes complex microphthalmia in humans. 56 6
23167593 2013
3
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. 6
15266624 2004

Variations for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

ClinVar genetic disease variations for Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SIX6 NM_007374.3(SIX6):c.110T>C (p.Leu37Pro)SNV Pathogenic 189378 rs786204851 14:60976226-60976226 14:60509508-60509508
2 SIX6 NM_007374.3(SIX6):c.532_536del (p.Asn178fs)deletion Likely pathogenic 189377 rs786205142 14:60976648-60976652 14:60509930-60509934
3 SIX6 NM_007374.3(SIX6):c.549C>G (p.Asp183Glu)SNV Likely pathogenic 870595 14:60976665-60976665 14:60509947-60509947
4 SIX6 NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)SNV Conflicting interpretations of pathogenicity 445796 rs146737847 14:60976501-60976501 14:60509783-60509783
5 SIX6 NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)SNV Conflicting interpretations of pathogenicity 522355 rs45549246 14:60977843-60977843 14:60511125-60511125
6 SIX6 NM_007374.3(SIX6):c.493A>G (p.Thr165Ala)SNV Uncertain significance 4436 rs104894480 14:60976609-60976609 14:60509891-60509891
7 SIX6 NM_007374.3(SIX6):c.421C>A (p.His141Asn)SNV Benign 260163 rs33912345 14:60976537-60976537 14:60509819-60509819

Expression 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.

Pathways for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Pathways related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.91 TTC37 SKIV2L

GO Terms for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Cellular components related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ski complex GO:0055087 8.62 TTC37 SKIV2L

Biological processes related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 8.96 TTC37 SKIV2L
2 RNA catabolic process GO:0006401 8.62 TTC37 SKIV2L

Sources for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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