MCID: RTN123
MIFTS: 19

Retinochoroidal Coloboma

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Retinochoroidal Coloboma

MalaCards integrated aliases for Retinochoroidal Coloboma:

Name: Retinochoroidal Coloboma 20
Retinal Coloboma 20 6
Coloboma of Choroid and Retina 20
Choroidal Coloboma 20

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


Summaries for Retinochoroidal Coloboma

GARD : 20 Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). In many cases, retinochoroidal coloboma does not cause symptoms. However, complications such as retinal detachment may occur at any age. Other possible complications include loss of visual clarity or distorted vision; cataract ; and abnormal blood vessel growth in the choroid (choroidal neovascularization). Retinochoroidal coloboma can involve one or both eyes, and may occur alone or in association with other birth defects. It can be inherited or can occur sporadically.

MalaCards based summary : Retinochoroidal Coloboma, also known as retinal coloboma, is related to coloboma, ocular, autosomal dominant and papillorenal syndrome. An important gene associated with Retinochoroidal Coloboma is CHD7 (Chromodomain Helicase DNA Binding Protein 7). Affiliated tissues include eye, retina and pituitary.

Related Diseases for Retinochoroidal Coloboma

Diseases related to Retinochoroidal Coloboma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 coloboma, ocular, autosomal dominant 11.4
2 papillorenal syndrome 11.1
3 aortic arch interruption, facial palsy, and retinal coloboma 11.1
4 baraitser-winter syndrome 1 11.0
5 coloboma of macula 10.7
6 macular holes 10.2
7 retinal detachment 10.1
8 coloboma of iris 10.1
9 myopia 10.1
10 cataract 10.1
11 pathologic nystagmus 10.1
12 vitreous detachment 10.1
13 von hippel-lindau syndrome 10.0
14 retinoschisis 1, x-linked, juvenile 10.0
15 microvascular complications of diabetes 5 10.0
16 microphthalmia 10.0
17 scleral staphyloma 10.0
18 hemangioblastoma 10.0
19 fatty liver disease 10.0
20 encephalocele 10.0
21 juvenile retinoschisis 10.0
22 optic disc pit 10.0
23 aniridia 1 9.9
24 cleft palate, isolated 9.9
25 coloboma of optic nerve 9.9
26 hemifacial microsomia 9.9
27 strabismus 9.9
28 moyamoya disease 1 9.9
29 tay-sachs disease 9.9
30 familial adenomatous polyposis 9.9
31 exudative vitreoretinopathy 9.9
32 chromosomal deletion syndrome 9.9
33 spastic quadriplegia 9.9
34 leukocoria 9.9
35 quadriplegia 9.9
36 mature cataract 9.9
37 ventricular septal defect 9.9
38 heart septal defect 9.9
39 keratopathy 9.9
40 mechanical strabismus 9.9
41 limb-body wall complex 9.9
42 hypotonia 9.9
43 facial cleft 9.9
44 microtia 9.9
45 vitreoretinopathy 9.9
46 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.9
47 achondroplasia 9.9
48 varicose veins 9.9
49 cryptorchidism, unilateral or bilateral 9.9
50 megalocornea 9.9

Graphical network of the top 20 diseases related to Retinochoroidal Coloboma:



Diseases related to Retinochoroidal Coloboma

Symptoms & Phenotypes for Retinochoroidal Coloboma

Drugs & Therapeutics for Retinochoroidal Coloboma

Search Clinical Trials , NIH Clinical Center for Retinochoroidal Coloboma

Genetic Tests for Retinochoroidal Coloboma

Anatomical Context for Retinochoroidal Coloboma

MalaCards organs/tissues related to Retinochoroidal Coloboma:

40
Eye, Retina, Pituitary, Endothelial, Heart, Liver

Publications for Retinochoroidal Coloboma

Articles related to Retinochoroidal Coloboma:

(show top 50) (show all 110)
# Title Authors PMID Year
1
Multicolour imaging in retinochoroidal coloboma. 61
31805602 2020
2
Prenatal description of retinal coloboma. 61
32438134 2020
3
[Unilateral chorio retinal coloboma]. 61
32475706 2020
4
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants. 61
32530092 2020
5
Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication. 61
32506980 2020
6
A rare case of temporal atypical retinochoroidal coloboma associated with posterior embryotoxon. 61
32587187 2020
7
Unusual superior iris and retinochoroidal coloboma. 61
32317490 2020
8
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review. 61
32164589 2020
9
Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation. 61
32187602 2020
10
Pars-plana vitrectomy with phacofragmentation for hyperdense cataracts in eyes with severe microcornea and chorio-retinal coloboma: A novel approach. 61
31856479 2020
11
Ocular Findings in Infants with Microcephaly Caused by Presumed Congenital Infection by Zika Virus in Sergipe. 61
32318282 2020
12
Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis. 61
31502381 2019
13
Phenotypic spectrum of neonatal CHARGE syndrome. 61
31859737 2019
14
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. 61
31001663 2019
15
Rare association of juvenile retinoschisis with retinochoroidal coloboma. 61
31401576 2019
16
Retinal capillary hemangioblastoma associated with retinochoroidal coloboma in Von Hippel-Lindau disease. 61
31007244 2019
17
Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development. 61
29922981 2019
18
Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance deficits. 61
30695021 2019
19
Atypical superior iris and retinochoroidal coloboma. 61
30249843 2018
20
Amniotic Band Syndrome: A Review of 2 Cases. 61
29634607 2018
21
Polypoidal Choroidal Vasculopathy Associated with Optic Disc Coloboma. 61
29643788 2018
22
Zebrafish zic2 controls formation of periocular neural crest and choroid fissure morphogenesis. 61
28689736 2017
23
[Optic disc pit-associated maculopathy and iris-retinochoroidal-coloboma - a rare combination]. 61
27514522 2017
24
Association of Pediatric Choroidal Neovascular Membranes at the Temporal Edge of Optic Nerve and Retinochoroidal Coloboma. 61
27793604 2017
25
Hypotonic maculopathy secondary to scleral defect in atypical retinochoroidal coloboma. 61
27445074 2016
26
Antivascular Endothelial Growth Factor Monotherapy for Choroidal Neovascularization Associated With Retinochoroidal Coloboma: Case Series. 61
26918902 2016
27
Multiple Ocular and Systemic Disorders in Association with Bilateral Duane's Retraction Syndrome. 61
27555711 2016
28
Prenatal diagnosis of retinal coloboma: interest of the three dimensional ultrasonography. 61
27016092 2016
29
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. 61
26660953 2016
30
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. 61
27804958 2016
31
PNEUMATIC RETINOPEXY FOR THE TREATMENT OF SHALLOW RETINAL DETACHMENT CAUSED BY A RETINAL BREAK IN THE INTERCALARY MEMBRANE OF MACULA SPARING RETINOCHOROIDAL COLOBOMA. 61
26465342 2016
32
Baraitser-Winter Cerebrofrontofacial Syndrome 61
26583190 2015
33
Spontaneous resealing of perforated scleral ectasia associated with atypical retinochoroidal coloboma. 61
25800772 2015
34
[Bilateral chorio-retinal coloboma]. 61
26194555 2015
35
Yap and Taz regulate retinal pigment epithelial cell fate. 61
26209646 2015
36
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 61
25052316 2015
37
UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. 61
25287747 2015
38
New insights into the development of infantile intraocular medulloepithelioma. 61
25174896 2014
39
Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 61
24412933 2014
40
[Choroid-retinal coloboma and unusual facial features in a 16-year-old girl]. 61
23996063 2013
41
Potential teratogenicity of methimazole: exposure of zebrafish embryos to methimazole causes similar developmental anomalies to human methimazole embryopathy. 61
23630110 2013
42
Iridal coloboma induces dyscoria during miosis in FLS mice. 61
22813095 2013
43
Joubert syndrome: the molar tooth sign of the mid-brain. 61
23919210 2013
44
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. 61
23342975 2013
45
Spectral domain optical coherence tomography demonstrates interconnected orbital cyst and chorioretinal coloboma in an adult. 61
25383833 2013
46
RE: On a retinochoroidal coloboma. 61
22883851 2012
47
Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. 61
22228100 2012
48
Renal coloboma syndrome. 61
21654726 2011
49
Initial presentation of a retinochoroidal coloboma in a preterm neonate. 61
21995995 2011
50
Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephaly. 61
21220025 2011

Variations for Retinochoroidal Coloboma

ClinVar genetic disease variations for Retinochoroidal Coloboma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHD7 NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter) SNV Pathogenic 523521 rs1554581757 GRCh37: 8:61655504-61655504
GRCh38: 8:60742945-60742945

Expression for Retinochoroidal Coloboma

Search GEO for disease gene expression data for Retinochoroidal Coloboma.

Pathways for Retinochoroidal Coloboma

GO Terms for Retinochoroidal Coloboma

Sources for Retinochoroidal Coloboma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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