MCID: LKC002
MIFTS: 33

Leukocoria

Categories: Eye diseases, Neuronal diseases
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Aliases & Classifications for Leukocoria

MalaCards integrated aliases for Leukocoria:

Name: Leukocoria 11 28 14 71 75
Leucocoria 11

Classifications:



External Ids:

Disease Ontology 11 DOID:11772
ICD9CM 34 360.44
SNOMED-CT 68 193288000
UMLS 71 C0152458

Summaries for Leukocoria

MalaCards based summary: Leukocoria, also known as leucocoria, is related to coats disease and exudative vitreoretinopathy. An important gene associated with Leukocoria is CRYAA (Crystallin Alpha A), and among its related pathways/superpathways are Oncogene Induced Senescence and Regulation of FZD by ubiquitination. Affiliated tissues include retina, eye and brain, and related phenotypes are pigmentation and nervous system

Wikipedia: 75 Leukocoria (also white pupillary reflex) is an abnormal white reflection from the retina of the eye.... more...

Related Diseases for Leukocoria

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

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 coats disease 30.9 ZNF408 TSPAN12 RS1 NDP LRP5 FZD4
2 exudative vitreoretinopathy 30.7 ZNF408 TSPAN12 NDP LRP5 FZD4 CRYAA
3 norrie disease 30.0 ZNF408 TSPAN12 RS1 NDP-AS1 NDP LRP5
4 persistent hyperplastic primary vitreous, autosomal recessive 29.9 TSPAN12 ATOH7
5 persistent hyperplastic primary vitreous 29.9 ZNF408 VSX2 TSPAN12 PAX6 NDP-AS1 NDP
6 coloboma of optic nerve 29.8 RS1 PAX6 CRYAA
7 esotropia 29.8 RS1 PAX6 CRYAA
8 intraocular retinoblastoma 29.8 RB1 MDM4 KIF14 DEK
9 strabismus 29.6 ZNF408 TSPAN12 RS1 RB1 PAX6 FZD4
10 bilateral retinoblastoma 29.4 VSX2 RB1 MDM4 KIF14
11 vitreoretinopathy 29.4 ZNF408 TSPAN12 NDP LRP5 FZD4
12 amblyopia 29.4 PAX6 CRYGD CRYAA
13 coloboma of macula 29.4 VSX2 PAX6 CRYAA ATOH7
14 exudative vitreoretinopathy 1 29.3 ZNF408 TSPAN12 PAX6 NDP LRP5 FZD4
15 microphthalmia 29.2 VSX2 PAX6 CRYAA ATOH7
16 retinal detachment 28.8 ZNF408 TSPAN12 RS1 PAX6 NDP-AS1 NDP
17 cataract 28.8 VSX2 PAX6 CRYGD CRYAA ATOH7
18 retinoblastoma 11.2
19 intraocular medulloepithelioma 10.9
20 central retinal artery occlusion 10.2 RS1 CRYAA
21 exudative vitreoretinopathy 2, x-linked 10.2 NDP-AS1 NDP
22 peripheral retinal degeneration 10.2 ZNF408 TSPAN12
23 retinal perforation 10.2 RS1 CRYAA
24 neovascular glaucoma 10.2 RS1 CRYAA
25 extraocular retinoblastoma 10.2 MDM4 KIF14
26 anisometropia 10.1 PAX6 CRYAA
27 vitreoretinal degeneration 10.1 TSPAN12 LRP5
28 axenfeld-rieger syndrome, type 3 10.1 PAX6 CRYAA
29 pathologic nystagmus 10.1 PAX6 CRYAA
30 congenital nystagmus 10.1 PAX6 CRYAA
31 uveitis 10.1
32 toxocariasis 10.1
33 ectropion 10.1 PAX6 CRYAA
34 microphthalmia, syndromic 2 10.1 VSX2 CRYAA
35 papillorenal syndrome 10.1 PAX6 CRYAA
36 exotropia 10.0 PAX6 CRYAA
37 microphthalmia, syndromic 8 10.0 VSX2 PAX6
38 osteoporosis-pseudoglioma syndrome 10.0 NDP LRP5 FZD4
39 isolated microphthalmia 3 10.0 VSX2 PAX6
40 fryns microphthalmia syndrome 10.0 VSX2 PAX6
41 vitreoretinal dystrophy 10.0 ZNF408 TSPAN12 RS1 CRYAA
42 achromatopsia 10.0 RS1 PAX6 CRYAA
43 microphthalmia, isolated 2 10.0 VSX2 PAX6
44 early-onset lamellar cataract 10.0 CRYGD CRYAA
45 retinal cancer 10.0
46 endophthalmitis 10.0
47 cataract microcornea syndrome 10.0 CRYGD CRYAA
48 familial retinoblastoma 10.0 RB1 MDM4
49 mature cataract 10.0 CRYGD CRYAA
50 deprivation amblyopia 10.0 CRYGD CRYAA

Graphical network of the top 20 diseases related to Leukocoria:



Diseases related to Leukocoria

Symptoms & Phenotypes for Leukocoria

MGI Mouse Phenotypes related to Leukocoria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.76 FZD4 LRP5 MDM4 NDP PAX6 RB1
2 nervous system MP:0003631 9.65 ATOH7 FZD4 KIF14 LRP5 MDM4 NDP
3 vision/eye MP:0005391 9.4 ATOH7 CRYAA CRYGD FZD4 KIF14 LRP5

Drugs & Therapeutics for Leukocoria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Evaluation of a Smartphone Application, GoCheckKids TM, as a Screening Tool for Leukocoria in the Infant and Pediatric Population Unknown status NCT04344652
2 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Active, not recruiting NCT03016156

Search NIH Clinical Center for Leukocoria

Genetic Tests for Leukocoria

Genetic tests related to Leukocoria:

# Genetic test Affiliating Genes
1 Leukocoria 28

Anatomical Context for Leukocoria

Organs/tissues related to Leukocoria:

MalaCards : Retina, Eye, Brain, Ovary, Bone

Publications for Leukocoria

Articles related to Leukocoria:

(show top 50) (show all 420)
# Title Authors PMID Year
1
Clinicopathological Correlations in Enucleated Globes of Late-Stage Coats Disease with a Review of the Literature. 62
36175755 2022
2
Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma. 62
35985532 2022
3
Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement. 62
36440799 2022
4
The Prevalence of Cataract in Children. 62
36381901 2022
5
Retinoblastoma: A review of clinical profile at a regional cancer center in Northwest India. 62
36412421 2022
6
Detection and Diagnosis of Retinoblastoma: Can Mobile Devices Be the Next Step Toward Early Intervention? 62
36381807 2022
7
Expression of Ki67 as detected by MIB-1 and its association with histopathological high-risk factors among patients with retinoblastoma tumour: a cross-sectional study. 62
36161862 2022
8
EyeScreen: Development and Potential of a Novel Machine Learning Application to Detect Leukocoria. 62
36245758 2022
9
Evaluation of childhood cataract characteristics at a tertiary referral center. 62
36169434 2022
10
Primary Subretinal Hydatid Cyst Presenting as Leukocoria in a Child. 62
36026707 2022
11
Assessment of scheduling for patients referred for an abnormal red reflex. 62
35654345 2022
12
Retinoblastoma in an older child with secondary glaucoma as the first clinical presenting symptom: A case report. 62
36157816 2022
13
Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic. 62
35791167 2022
14
Case report: tuberous sclerosis and persistent hyperplastic primary vitreous. 62
35842607 2022
15
Cross-sectional observational analysis of the genetic referral practices across pediatric ophthalmology outpatient departments in an urban setting. 62
35791157 2022
16
Surgical outcomes of posterior persistent fetal vasculature syndrome: cases with tent-shaped and closed funnel-shaped retinal detachment. 62
35739244 2022
17
An atypical clinical/radiological presentation of Retinoblastoma in a 4-year-old child: A case report & educational lessons from Syria. 62
35734689 2022
18
Correlation of clinical and radiological predictors of retinoblastoma with high-risk histopathological features. 62
35253344 2022
19
Unilateral Xanthocoria and Retinal Vascular Anomalies in a 3-Year-Old Boy: Retinoblastoma or Coats Disease? 62
35603949 2022
20
Leukocoria in a child due to endophthalmitis caused by an intraocular eyelash. 62
35033542 2022
21
Retinoblastoma Outcomes in a Tertiary Hospital in Northern Luzon, The Philippines: A 15-Year Experience. 62
36466982 2022
22
RETINAL NEURONAL ECTOPIA: A NEW ENTITY IN THE DIFFERENTIAL DIAGNOSIS OF RETINOBLASTOMA. 62
31800504 2022
23
Pediatric Oculo-orbital Tumor Characteristics, Imaging and Histopathology Agreement in a Tertiary Level Teaching Hospital, Ethiopia. 62
35693568 2022
24
Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. 62
35219116 2022
25
Characterization of the Portuguese population diagnosed with retinoblastoma. 62
35288594 2022
26
Ocular toxocariasis presenting as leukocoria. 62
35218757 2022
27
Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family. 62
35222542 2022
28
Atypical unilateral exudative retinal detachment in a child affected by tuberous sclerosis. 62
33325261 2022
29
Etiology of white pupillary reflex in pediatric age group. 62
35531443 2022
30
Rescue intra-arterial chemotherapy in unilateral multirelapsed peripapillary retinoblastoma: Decision making and the role of MRI. 62
32907373 2022
31
Survival outcomes of unilateral retinoblastoma based on pathological risk stratification-experience at a tertiary care centre in Pakistan. 62
35685957 2022
32
Clinical presentation and outcomes in children with retinoblastoma managed at the Uganda Cancer Institute. 62
35308301 2022
33
Improving Medical Students' Awareness About Retinoblastoma: A Practical Strategy. 62
35698597 2022
34
Correlation between clinical presentations, radiological findings and high risk histopathological features of primary enucleated eyes with advanced retinoblastoma at Queen Sirikit National Institute of Child Health: 5 years result. 62
35857757 2022
35
Retinoblastoma: Review and new insights. 62
36408154 2022
36
[Pediatric cataract: Epidemiological, etiological, clinical and therapeutic features at the Yaounde gyneco-obstetrics and pediatric hospital]. 62
34561092 2021
37
Pediatric Ocular Toxocariasis in Costa Rica: 1998-2018 Experience. 62
32809906 2021
38
[Ocular manifestations of toxocariasis in schoolchildren from the state from the AnzoƔtegui state in Venezuela]. 62
35385016 2021
39
Evaluation of the red reflex: An overview for the pediatrician. 62
34631483 2021
40
Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene. 62
34189345 2021
41
Strabismus as a Presenting Sign in Retinoblastoma. 62
34592118 2021
42
Methylene blue-mediated Photodynamic Therapy in human retinoblastoma cell lines. 62
34304071 2021
43
Retinoblastoma presenting as pseudohypopyon and preserved visual acuity. 62
34222713 2021
44
Clinical Presentation of Retinoblastoma in Ethiopia: A Case of Jimma University Medical Center Pediatric Oncology Unit, Southwest Ethiopia. 62
35221612 2021
45
A novel indigenous technique for corneal tattooing using self-prepared do-it-yourself carbon soot pigment. 62
34427256 2021
46
Late Diagnosis of Congenital Toxoplasmosis with Macrocephaly in Dizygotic Twins after Incidental Detection of Leukocoria: A Case Report. 62
34023345 2021
47
Hyperoleon masquerading as leukocoria. 62
34544725 2021
48
Human papillomavirus in retinoblastoma: A tertiary eye care center study from South India. 62
34304188 2021
49
Retinoblastoma: A Major Review. 62
34226484 2021
50
Knowledge of and attitude to eye disorders among pediatricians in North Jordan. 62
34168867 2021

Variations for Leukocoria

Expression for Leukocoria

Search GEO for disease gene expression data for Leukocoria.

Pathways for Leukocoria

Pathways related to Leukocoria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.47 RB1 MDM4
2
Show member pathways
10.09 LRP5 FZD4

GO Terms for Leukocoria

Biological processes related to Leukocoria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 10.03 CRYAA CRYGD NDP PAX6 RS1 VSX2
2 neuron differentiation GO:0030182 9.91 RB1 PAX6 FZD4 ATOH7
3 response to stimulus GO:0050896 9.88 VSX2 RS1 NDP CRYGD CRYAA
4 lens development in camera-type eye GO:0002088 9.8 PAX6 CRYGD CRYAA
5 negative regulation of protein serine/threonine kinase activity GO:0071901 9.76 RB1 LRP5
6 retinal blood vessel morphogenesis GO:0061304 9.67 LRP5 FZD4
7 retina vasculature morphogenesis in camera-type eye GO:0061299 9.55 NDP LRP5 FZD4
8 extracellular matrix-cell signaling GO:0035426 9.43 NDP LRP5 FZD4
9 Norrin signaling pathway GO:0110135 9.1 NDP LRP5 FZD4

Molecular functions related to Leukocoria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Wnt receptor activity GO:0042813 9.02 TSPAN12 LRP5 FZD4

Sources for Leukocoria

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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