COAR
MCID: CLB022
MIFTS: 28

Coloboma, Ocular, Autosomal Recessive (COAR)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Coloboma, Ocular, Autosomal Recessive

MalaCards integrated aliases for Coloboma, Ocular, Autosomal Recessive:

Name: Coloboma, Ocular, Autosomal Recessive 57 73 39
Ocular Coloboma, Autosomal Recessive 29 6
Coar 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of one consanguineous kuwaiti family (last curated december 2014)


HPO:

31
coloboma, ocular, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coloboma, Ocular, Autosomal Recessive

OMIM® : 57 Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). For a discussion of genetic heterogeneity of ocular coloboma, see 120200. (216820) (Updated 05-Mar-2021)

MalaCards based summary : Coloboma, Ocular, Autosomal Recessive, also known as ocular coloboma, autosomal recessive, is related to ovarian cancer and pheochromocytoma. An important gene associated with Coloboma, Ocular, Autosomal Recessive is SALL2 (Spalt Like Transcription Factor 2). Affiliated tissues include eye, retina and breast, and related phenotypes are nystagmus and cataract

UniProtKB/Swiss-Prot : 73 Coloboma, ocular, autosomal recessive: An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia.

Related Diseases for Coloboma, Ocular, Autosomal Recessive

Diseases in the Coloboma, Ocular, Autosomal Dominant family:

Coloboma, Ocular, Autosomal Recessive

Diseases related to Coloboma, Ocular, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ovarian cancer 9.9
2 pheochromocytoma 9.9
3 adrenocortical carcinoma, hereditary 9.9
4 adrenal cortical carcinoma 9.9
5 adrenal gland pheochromocytoma 9.9
6 cholera 9.9
7 adrenal cortical adenocarcinoma 9.9
8 ovarian epithelial cancer 9.9

Graphical network of the top 20 diseases related to Coloboma, Ocular, Autosomal Recessive:



Diseases related to Coloboma, Ocular, Autosomal Recessive

Symptoms & Phenotypes for Coloboma, Ocular, Autosomal Recessive

Human phenotypes related to Coloboma, Ocular, Autosomal Recessive:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 cataract 31 very rare (1%) HP:0000518
3 lens subluxation 31 very rare (1%) HP:0001132
4 iris coloboma 31 very rare (1%) HP:0000612
5 reduced visual acuity 31 very rare (1%) HP:0007663
6 optic nerve coloboma 31 very rare (1%) HP:0000588
7 esotropia 31 very rare (1%) HP:0000565
8 retinal coloboma 31 very rare (1%) HP:0000480
9 exotropia 31 very rare (1%) HP:0000577
10 hypertropia 31 very rare (1%) HP:0025586

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
decreased visual acuity
exotropia (in some patients)
coloboma, inferior iris
coloboma, retinochoroidal
coloboma of optic disc
more

Clinical features from OMIM®:

216820 (Updated 05-Mar-2021)

Drugs & Therapeutics for Coloboma, Ocular, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Coloboma, Ocular, Autosomal Recessive

Genetic Tests for Coloboma, Ocular, Autosomal Recessive

Genetic tests related to Coloboma, Ocular, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Ocular Coloboma, Autosomal Recessive 29 SALL2

Anatomical Context for Coloboma, Ocular, Autosomal Recessive

MalaCards organs/tissues related to Coloboma, Ocular, Autosomal Recessive:

40
Eye, Retina, Breast, Cortex, Colon, Liver, Prostate

Publications for Coloboma, Ocular, Autosomal Recessive

Articles related to Coloboma, Ocular, Autosomal Recessive:

(show top 50) (show all 117)
# Title Authors PMID Year
1
Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 57 6
24412933 2014
2
Possible autosomal-recessive ocular coloboma. 57
7282780 1981
3
Impaired cholesterol metabolism in the mouse model of cystic fibrosis. A preliminary study. 61
33412572 2021
4
Draft genome and transcriptome analyses of halophyte rice Oryza coarctata provide resources for salinity and submergence stress response factors. 61
33215706 2020
5
Small RNA coaR contributes to intestinal colonization in Vibrio cholerae via the two-component system EnvZ/OmpR. 61
31868254 2020
6
An Atomic-Level Perspective of HMG-CoA-Reductase: The Target Enzyme to Treat Hypercholesterolemia. 61
32859023 2020
7
Repeated ethanol exposure influences key enzymes in cholesterol and lipid homeostasis via the AMPK pathway in the rat prefrontal cortex. 61
31734306 2020
8
Unexpected activation of N-alkyl hydroxamic acids to produce reactive N-centered free radicals and DNA damage by carcinogenic chlorinated quinones under normal physiological conditions. 61
31626947 2020
9
Fabrication and characterization of solid lipid nano-formulation of astraxanthin against DMBA-induced breast cancer via Nrf-2-Keap1 and NF-kB and mTOR/Maf-1/PTEN pathway. 61
31556759 2019
10
Dietary apple polyphenols supplementation enhances antioxidant capacity and improves lipid metabolism in weaned piglets. 61
31268198 2019
11
HMG CoA reductase expression as a prognostic factor in Korean patients with breast cancer: A retrospective study. 61
30921201 2019
12
The antiatherogenic effect of new biocompatible cationically modified polysaccharides: chitosan and pullulan - the comparison study. 61
30898987 2018
13
CoAR: Congestion-Aware Routing Protocol for Low Power and Lossy Networks for IoT Applications. 61
30423917 2018
14
Taxifolin binds with LXR (α & β) to attenuate DMBA-induced mammary carcinogenesis through mTOR/Maf-1/PTEN pathway. 61
29843042 2018
15
Plasma PCSK9 correlates with apoB-48-containing triglyceride-rich lipoprotein production in men with insulin resistance. 61
29946054 2018
16
Characteristics of Adrenal Incidentalomas in a Large, Prospective Computed Tomography-Based Multicenter Study: The COAR Study in Korea. 61
29749133 2018
17
Function of Thelenota ananas saponin desulfated holothurin A in modulating cholesterol metabolism. 61
29934523 2018
18
Metabolic features of cancer stem cells: the emerging role of lipid metabolism. 61
29445137 2018
19
Potential Molecular Targets of Statins in the Prevention of Hepatocarcinogenesis. 61
29735800 2018
20
Chinese Olive (Canarium album L.) Fruit Extract Attenuates Metabolic Dysfunction in Diabetic Rats. 61
29036927 2017
21
Transcriptional control of enterohepatic lipid regulatory targets in response to early cholesterol and phytosterol exposure in apoE-/- mice. 61
29084592 2017
22
Hypolipidaemic effect and mechanism of paprika seed oil on Sprague-Dawley rats. 61
28251657 2017
23
Quantitative Proteomics Reveals Potential Crosstalk between a Small RNA CoaR and a Two-Component Regulator Slr1037 in Synechocystis sp. PCC6803. 61
28677390 2017
24
Effects of an Enriched Extract of Paeoniflorin, a Monoterpene Glycoside used in Chinese Herbal Medicine, on Cholesterol Metabolism in a Hyperlipidemic Rat Model. 61
28706181 2017
25
Advanced glycation end products (AGEs) increase renal lipid accumulation: a pathogenic factor of diabetic nephropathy (DN). 61
28659153 2017
26
Effects of Karela (Bitter Melon; Momordica charantia) on genes of lipids and carbohydrates metabolism in experimental hypercholesterolemia: biochemical, molecular and histopathological study. 61
28623919 2017
27
Hawthorn (Crataegus pinnatifida Bunge) leave flavonoids attenuate atherosclerosis development in apoE knock-out mice. 61
28119096 2017
28
A novel small RNA CoaR regulates coenzyme A biosynthesis and tolerance of Synechocystis sp. PCC6803 to 1-butanol possibly via promoter-directed transcriptional silencing. 61
28239414 2017
29
Mevalonate Pathway and Human Cancers. 61
26758953 2017
30
Ezetimibe increases intestinal expression of the LDL receptor gene in dyslipidaemic men with insulin resistance. 61
27460541 2016
31
Cholesterol-Lowering Effects and Mechanisms in View of Bile Acid Pathway of Resveratrol and Resveratrol Glucuronides. 61
27735997 2016
32
HMG-CoAR expression in male breast cancer: relationship with hormone receptors, Hippo transducers and survival outcomes. 61
27713571 2016
33
Computational Study of the Palladium-Catalyzed Carbonylative Synthesis of Aromatic Acid Chlorides: The Synergistic Effect of PtBu3 and CO on Reductive Elimination. 61
27608423 2016
34
Influence of maternal hypercholesterolemia and phytosterol intervention during gestation and lactation on dyslipidemia and hepatic lipid metabolism in offspring of Syrian golden hamsters. 61
27213832 2016
35
Phase I biomarker modulation study of atorvastatin in women at increased risk for breast cancer. 61
27287781 2016
36
Rice bran proteins and their hydrolysates modulate cholesterol metabolism in mice on hypercholesterolemic diets. 61
27216972 2016
37
Dolichol: A Component of the Cellular Antioxidant Machinery. 61
26968401 2016
38
Statins can exert dual, concentration dependent effects on HCV entry in vitro. 61
26868875 2016
39
Lipid Regulation Effects of Raw and Processed Notoginseng Radix Et Rhizome on Steatotic Hepatocyte L02 Cell. 61
27642594 2016
40
Update on Mechanisms of Renal Tubule Injury Caused by Advanced Glycation End Products. 61
27034941 2016
41
Chronic Administration of Visfatin Ameliorated Diabetic Nephropathy in Type 2 Diabetic Mice. 61
27221663 2016
42
Paeoniflorin Protects against Nonalcoholic Fatty Liver Disease Induced by a High-Fat Diet in Mice. 61
25972092 2015
43
Synergistic simvastatin and metformin combination chemotherapy for osseous metastatic castration-resistant prostate cancer. 61
25122066 2014
44
The current view on biological potency of cationically modified chitosan. 61
24930505 2014
45
Distinct functions of COAR and B3 domains of maize VP1 in induction of ectopic gene expression and plant developmental phenotypes in Arabidopsis. 61
24473899 2014
46
Effect of Moringa oleifera on advanced glycation end-product formation and lipid metabolism gene expression in HepG2 cells. 61
24615037 2014
47
Hawthorn fruit attenuates atherosclerosis by improving the hypolipidemic and antioxidant activities in apolipoprotein e-deficient mice. 61
24126122 2014
48
A palladium-catalyzed carbonylation approach to acid chloride synthesis. 61
24144068 2013
49
Statins and Breast Cancer: Future Directions in Chemoprevention. 61
23997864 2013
50
Preclinical evaluation of statins as a treatment for ovarian cancer. 61
23402903 2013

Variations for Coloboma, Ocular, Autosomal Recessive

ClinVar genetic disease variations for Coloboma, Ocular, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SALL2 NM_001364564.1(SALL2):c.79G>T (p.Glu27Ter) SNV Pathogenic 143946 rs587776429 14:21993777-21993777 14:21525643-21525643

Expression for Coloboma, Ocular, Autosomal Recessive

Search GEO for disease gene expression data for Coloboma, Ocular, Autosomal Recessive.

Pathways for Coloboma, Ocular, Autosomal Recessive

GO Terms for Coloboma, Ocular, Autosomal Recessive

Sources for Coloboma, Ocular, Autosomal Recessive

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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