MCID: CVT001
MIFTS: 25

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 54 71 29 13 69
Familial Cavitary Optic Disc Anomaly 56
Eye Diseases, Hereditary 42
Familial Coda 56
Coda 71

Characteristics:

OMIM:

54
Miscellaneous:
some patients are asymptomatic and diagnosed incidentally
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
onset of symptoms in adolescence or early adulthood

Inheritance:
autosomal dominant


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 611543
Orphanet 56 ORPHA464760
MedGen 40 C1969063
MeSH 42 D015785
SNOMED-CT via HPO 65 65194006 12184005 13164000

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 familial cavitary optic disc anomaly, is related to codas syndrome and even-plus syndrome, and has symptoms including nyctalopia, reduced visual acuity 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:

id Related Disease Score Top Affiliating Genes
1 codas syndrome 12.4
2 even-plus syndrome 10.8
3 cerebritis 10.0
4 eye disease 9.6
5 spermatogenic failure 9 8.9 CODA LONP1 MMP19

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:

54

Head And Neck- Eyes:
macular holes (rare)
peripapillary atrophy (in some patients)
scleral ring around optic nerve (in some patients)
peripapillary pigmentary changes (in some patients)
serous macular detachments (in some patients)
more

Clinical features from OMIM:

611543

Human phenotypes related to Cavitary Optic Disc Anomalies:

32
id Description HPO Frequency HPO Source Accession
1 nyctalopia 32 occasional (7.5%) HP:0000662
2 reduced visual acuity 32 HP:0007663
3 visual field defect 32 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:

id Genetic test Affiliating Genes
1 Cavitary Optic Disc Anomalies 29

Anatomical Context for Cavitary Optic Disc Anomalies

MalaCards organs/tissues related to Cavitary Optic Disc Anomalies:

39
Eye

Publications for Cavitary Optic Disc Anomalies

Articles related to Cavitary Optic Disc Anomalies:

id Title Authors Year
1
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. ( 25581579 )
2015
2
Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies. ( 24932988 )
2014
3
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
id 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 GRCh38 Chromosome 12, 55845043: 55851177
6 MMP19 NC_000012.12: g.55845043_55851177[3] undetermined variant 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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