ODRMD
MCID: OPT058
MIFTS: 21

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 57 37 40
Odrmd 57 74
Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome 59
Optic Disk Anomalies with Retinal and/or Macular Dystrophy 74

Characteristics:

Orphanet epidemiological data:

59
colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
optic disc anomalies with retinal and/or macular dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 212550
KEGG 37 H02231
MeSH 44 D008850
ICD10 via Orphanet 34 Q14.8
Orphanet 59 ORPHA435930

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

KEGG : 37
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, 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

UniProtKB/Swiss-Prot : 74 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

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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 chorioretinal coloboma 32 occasional (7.5%) HP:0000567
2 glaucoma 32 occasional (7.5%) HP:0000501
3 retinal detachment 32 occasional (7.5%) HP:0000541
4 iris coloboma 32 occasional (7.5%) HP:0000612
5 nystagmus 32 HP:0000639
6 cataract 32 HP:0000518
7 microphthalmia 32 HP:0000568
8 horizontal nystagmus 32 HP:0000666
9 miosis 32 HP:0000616
10 retinal dystrophy 32 HP:0000556
11 macular atrophy 32 HP:0007401

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
24702266 2015
2
Homozygous truncation of SIX6 causes complex microphthalmia in humans. 8 71
23167593 2013
3
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. 71
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 GRCh37 Pos GRCh38 Pos
1 SIX6 NM_007374.3(SIX6): c.110T> C (p.Leu37Pro) single nucleotide variant Pathogenic rs786204851 14:60976226-60976226 14:60509508-60509508
2 SIX6 NM_007374.3(SIX6): c.532_536del (p.Asn178fs) deletion Likely pathogenic rs786205142 14:60976648-60976652 14:60509930-60509934
3 SIX6 NM_007374.3(SIX6): c.493A> G (p.Thr165Ala) single nucleotide variant Uncertain significance rs104894480 14:60976609-60976609 14:60509891-60509891
4 SIX6 NM_007374.3(SIX6): c.385G> A (p.Glu129Lys) single nucleotide variant Uncertain significance rs146737847 14:60976501-60976501 14:60509783-60509783
5 SIX6 NM_007374.3(SIX6): c.614T> G (p.Leu205Arg) single nucleotide variant Likely benign rs45549246 14:60977843-60977843 14:60511125-60511125

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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