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 57 75 29 13 6 73
Coda 57 75
Familial Cavitary Optic Disc Anomaly 59
Eye Diseases, Hereditary 44
Familial Coda 59

Characteristics:

OMIM:

57
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:

32
cavitary optic disc anomalies:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 611543
Orphanet 59 ORPHA464760
MedGen 42 C1969063
MeSH 44 D015785
UMLS 73 C1969063

Summaries for Cavitary Optic Disc Anomalies

UniProtKB/Swiss-Prot : 75 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 disk 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. An important gene associated with Cavitary Optic Disc Anomalies is MMP19 (Matrix Metallopeptidase 19). Affiliated tissues include eye, and related phenotypes are nyctalopia and visual field defect

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 10.0
4 chromosome 4p deletion 10.0
5 wolf-hirschhorn syndrome 10.0
6 spondylosis 9.9
7 cervicitis 9.9
8 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9
9 lecithin:cholesterol acyltransferase deficiency 9.6

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:

57
Head And Neck Eyes:
decreased visual acuity
night blindness (rare)
visual field defects
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:

32
# Description HPO Frequency HPO Source Accession
1 nyctalopia 32 occasional (7.5%) HP:0000662
2 visual field defect 32 HP:0001123
3 reduced visual acuity 32 HP:0007663

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 29 MMP19

Anatomical Context for Cavitary Optic Disc Anomalies

MalaCards organs/tissues related to Cavitary Optic Disc Anomalies:

41
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
Role of the Epipapillary Membrane in Maculopathy Associated with Cavitary Optic Disc Anomalies: Morphology, Surgical Outcomes, and Histopathology. ( 29854427 )
2018
3
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. ( 25581579 )
2015
4
Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies. ( 24932988 )
2014
5
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 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177)x4 copy number gain Pathogenic GRCh37 Chromosome 12, 56238827: 56244961
2 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177)x4 copy number gain Pathogenic GRCh38 Chromosome 12, 55845043: 55851177
3 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177) copy number gain Pathogenic GRCh37 Chromosome 12, 56238827: 56244961
4 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

Sources for Cavitary Optic Disc Anomalies

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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