ODRMD
MCID: OPT058
MIFTS: 19

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

Categories: Eye diseases, Fetal diseases, Genetic 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 58 38 41
Odrmd 58 76
Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome 60
Optic Disk Anomalies with Retinal and/or Macular Dystrophy 76

Characteristics:

Orphanet epidemiological data:

60
colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
optic disc anomalies with retinal and/or macular dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Optic Disc Anomalies with Retinal and/or Macular Dystrophy, is also known as odrmd. An important gene associated with Optic Disc Anomalies with Retinal and/or Macular Dystrophy is SIX6 (SIX Homeobox 6). Affiliated tissues include eye, and related phenotypes are chorioretinal coloboma and glaucoma

Description from OMIM: 212550

Related Diseases for 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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 chorioretinal coloboma 33 occasional (7.5%) HP:0000567
2 glaucoma 33 occasional (7.5%) HP:0000501
3 retinal detachment 33 occasional (7.5%) HP:0000541
4 iris coloboma 33 occasional (7.5%) HP:0000612
5 nystagmus 33 HP:0000639
6 cataract 33 HP:0000518
7 microphthalmia 33 HP:0000568
8 horizontal nystagmus 33 HP:0000666
9 miosis 33 HP:0000616
10 retinal dystrophy 33 HP:0000556
11 macular atrophy 33 HP:0007401

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
horizontal nystagmus
retinal dystrophy
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

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:

42
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 Year
1
A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation. ( 24702266 )
2015
2
Homozygous truncation of SIX6 causes complex microphthalmia in humans. ( 23167593 )
2013
3
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. ( 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 Variation Type Significance SNP ID Assembly Location
1 SIX6 NM_007374.2(SIX6): c.493A> G (p.Thr165Ala) single nucleotide variant Uncertain significance rs104894480 GRCh37 Chromosome 14, 60976609: 60976609
2 SIX6 NM_007374.2(SIX6): c.493A> G (p.Thr165Ala) single nucleotide variant Uncertain significance rs104894480 GRCh38 Chromosome 14, 60509891: 60509891
3 SIX6 NM_007374.2(SIX6): c.532_536delAACCG (p.Asn178Profs) deletion Likely pathogenic rs786205142 GRCh37 Chromosome 14, 60976648: 60976652
4 SIX6 NM_007374.2(SIX6): c.532_536delAACCG (p.Asn178Profs) deletion Likely pathogenic rs786205142 GRCh38 Chromosome 14, 60509930: 60509934
5 SIX6 NM_007374.2(SIX6): c.110T> C (p.Leu37Pro) single nucleotide variant Pathogenic rs786204851 GRCh37 Chromosome 14, 60976226: 60976226
6 SIX6 NM_007374.2(SIX6): c.110T> C (p.Leu37Pro) single nucleotide variant Pathogenic rs786204851 GRCh38 Chromosome 14, 60509508: 60509508
7 SIX6 NM_007374.2(SIX6): c.385G> A (p.Glu129Lys) single nucleotide variant Uncertain significance rs146737847 GRCh37 Chromosome 14, 60976501: 60976501
8 SIX6 NM_007374.2(SIX6): c.385G> A (p.Glu129Lys) single nucleotide variant Uncertain significance rs146737847 GRCh38 Chromosome 14, 60509783: 60509783
9 SIX6 NM_007374.2(SIX6): c.614T> G (p.Leu205Arg) single nucleotide variant Likely benign rs45549246 GRCh38 Chromosome 14, 60511125: 60511125
10 SIX6 NM_007374.2(SIX6): c.614T> G (p.Leu205Arg) single nucleotide variant Likely benign rs45549246 GRCh37 Chromosome 14, 60977843: 60977843

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

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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