MCID: CVT001
MIFTS: 28

Cavitary Optic Disc Anomalies

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Cavitary Optic Disc Anomalies

MalaCards integrated aliases for Cavitary Optic Disc Anomalies:

Name: Cavitary Optic Disc Anomalies 53 71 28 13 69
Coda 53 71
Familial Cavitary Optic Disc Anomaly 55
Eye Diseases, Hereditary 41
Familial Coda 55

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset of symptoms in adolescence or early adulthood
broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients
more than half of patients develop retinal detachments and/or retinoschisis later in life
some patients are asymptomatic and diagnosed incidentally


HPO:

31
cavitary optic disc anomalies:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 611543
Orphanet 55 ORPHA464760
MedGen 39 C1969063
MeSH 41 D015785
UMLS 69 C1969063

Summaries for Cavitary Optic Disc Anomalies

UniProtKB/Swiss-Prot : 71 Cavitary optic disc anomalies: An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disc anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss.

MalaCards based summary : Cavitary Optic Disc Anomalies, also known as coda, is related to codas syndrome and even-plus syndrome, and has symptoms including reduced visual acuity, nyctalopia and visual field defect. An important gene associated with Cavitary Optic Disc Anomalies is MMP19 (Matrix Metallopeptidase 19). Affiliated tissues include eye.

Description from OMIM: 611543

Related Diseases for Cavitary Optic Disc Anomalies

Diseases related to Cavitary Optic Disc Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 codas syndrome 12.5
2 even-plus syndrome 10.9
3 cerebritis 10.1
4 wolf-hirschhorn syndrome 10.0
5 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9
6 spondylosis 9.9
7 cervicitis 9.9

Graphical network of the top 20 diseases related to Cavitary Optic Disc Anomalies:



Diseases related to Cavitary Optic Disc Anomalies

Symptoms & Phenotypes for Cavitary Optic Disc Anomalies

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
decreased visual acuity
visual field defects
night blindness (rare)
colobomatous optic nerve head (in some patients)
optic nerve head pit (in some patients)
more

Clinical features from OMIM:

611543

Human phenotypes related to Cavitary Optic Disc Anomalies:

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 nyctalopia 31 occasional (7.5%) HP:0000662
3 visual field defect 31 HP:0001123

Drugs & Therapeutics for Cavitary Optic Disc Anomalies

Search Clinical Trials , NIH Clinical Center for Cavitary Optic Disc Anomalies

Cochrane evidence based reviews: eye diseases, hereditary

Genetic Tests for Cavitary Optic Disc Anomalies

Genetic tests related to Cavitary Optic Disc Anomalies:

# Genetic test Affiliating Genes
1 Cavitary Optic Disc Anomalies 28 MMP19

Anatomical Context for Cavitary Optic Disc Anomalies

MalaCards organs/tissues related to Cavitary Optic Disc Anomalies:

38
Eye

Publications for Cavitary Optic Disc Anomalies

Articles related to Cavitary Optic Disc Anomalies:

# Title Authors Year
1
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. ( 29199884 )
2018
2
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. ( 25581579 )
2015
3
Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies. ( 24932988 )
2014
4
The spectrum of cavitary optic disc anomalies in a family. ( 2710526 )
1989

Variations for Cavitary Optic Disc Anomalies

ClinVar genetic disease variations for Cavitary Optic Disc Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LONP1 NM_004793.3(LONP1): c.2353A> G (p.Arg785Gly) single nucleotide variant Pathogenic rs730880293 GRCh38 Chromosome 19, 5693737: 5693737
2 LONP1 NM_004793.3(LONP1): c.2026C> T (p.Pro676Ser) single nucleotide variant Pathogenic rs879255247 GRCh37 Chromosome 19, 5694900: 5694900
3 LONP1 NM_004793.3(LONP1): c.1892C> A (p.Ser631Tyr) single nucleotide variant Pathogenic rs879255248 GRCh37 Chromosome 19, 5696264: 5696264
4 LONP1 NM_004793.3(LONP1): c.2171C> T (p.Ala724Val) single nucleotide variant Pathogenic rs879255249 GRCh38 Chromosome 19, 5694536: 5694536
5 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177)x4 copy number gain Pathogenic GRCh37 Chromosome 12, 56238827: 56244961
6 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177) copy number gain Pathogenic GRCh38 Chromosome 12, 55845043: 55851177

Expression for Cavitary Optic Disc Anomalies

Search GEO for disease gene expression data for Cavitary Optic Disc Anomalies.

Pathways for Cavitary Optic Disc Anomalies

GO Terms for Cavitary Optic Disc Anomalies

Biological processes related to Cavitary Optic Disc Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 8.96 LONP1 MMP19
2 response to hormone GO:0009725 8.62 LONP1 MMP19

Molecular functions related to Cavitary Optic Disc Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 8.96 LONP1 MMP19
2 serine-type endopeptidase activity GO:0004252 8.62 LONP1 MMP19

Sources for Cavitary Optic Disc Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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