MCID: OPT058
MIFTS: 18

Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Categories: Genetic diseases, Eye diseases, Fetal 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 40
Odrmd 57 75
Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome 59
Optic Disk Anomalies with Retinal and/or Macular Dystrophy 75

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:



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

UniProtKB/Swiss-Prot : 75 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 nystagmus and cataract

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

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

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

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

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

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.532_536delAACCG (p.Asn178Profs) deletion Likely pathogenic rs786205142 GRCh37 Chromosome 14, 60976648: 60976652
2 SIX6 NM_007374.2(SIX6): c.532_536delAACCG (p.Asn178Profs) deletion Likely pathogenic rs786205142 GRCh38 Chromosome 14, 60509930: 60509934
3 SIX6 NM_007374.2(SIX6): c.110T> C (p.Leu37Pro) single nucleotide variant Pathogenic rs786204851 GRCh37 Chromosome 14, 60976226: 60976226
4 SIX6 NM_007374.2(SIX6): c.110T> C (p.Leu37Pro) single nucleotide variant Pathogenic rs786204851 GRCh38 Chromosome 14, 60509508: 60509508
5 SIX6 NM_007374.2(SIX6): c.614T> G (p.Leu205Arg) single nucleotide variant Likely benign rs45549246 GRCh38 Chromosome 14, 60511125: 60511125
6 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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