Aliases & Classifications for Leukocoria

MalaCards integrated aliases for Leukocoria:

Name: Leukocoria 12 29 15 73
Leucocoria 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11772
ICD10 33 H44.53
ICD9CM 35 360.44
SNOMED-CT 68 1361009 193288000
UMLS 73 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 EFHC2 (EF-Hand Domain Containing 2), and among its related pathways/superpathways are Colorectal Cancer Metastasis and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, and related phenotype is pigmentation.

Wikipedia : 76 Leukocoria (also leukokoria or white pupillary reflex) is an abnormal white reflection from the retina... more...

Related Diseases for Leukocoria

Graphical network of the top 20 diseases related to Leukocoria:



Diseases related to Leukocoria

Symptoms & Phenotypes for Leukocoria

MGI Mouse Phenotypes related to Leukocoria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 FZD4 LRP5 NDP

Drugs & Therapeutics for Leukocoria

Drugs for Leukocoria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Recruiting NCT03016156 Not Applicable

Search NIH Clinical Center for Leukocoria

Genetic Tests for Leukocoria

Genetic tests related to Leukocoria:

# Genetic test Affiliating Genes
1 Leukocoria 29

Anatomical Context for Leukocoria

MalaCards organs/tissues related to Leukocoria:

41
Eye, Retina, Brain

Publications for Leukocoria

Articles related to Leukocoria:

(show all 46)
# Title Authors Year
1
Choroidal Coloboma Presenting as Leukocoria. ( 28526217 )
2017
2
Leukocoria and Decreased Vision Detected During a Routine Pediatric Screening Eye Examination. ( 27415836 )
2016
3
Two-Year-Old Boy With Leukocoria and Strabismus. ( 26531178 )
2015
4
Case 2: A three-year-old boy with photographic leukocoria. ( 26525670 )
2015
5
Toxic granulomatous anterior uveitis in live intracameral cysticercosis masquerading as leukocoria. ( 25433748 )
2014
6
Unsutured phakic implantation of a black intraocular lens in the sulcus to treat leukocoria. ( 25135551 )
2014
7
Leukocoria in a 2-year-old boy. ( 25156709 )
2014
8
Detection of leukocoria using a soft fusion of expert classifiers under non-clinical settings. ( 25204762 )
2014
9
Colorimetric and longitudinal analysis of leukocoria in recreational photographs of children with retinoblastoma. ( 24204654 )
2013
10
Radiology case of the month. An infant with leukocoria: persistent fetal vasculature syndrome. Persistent fetal vasculature syndrome (PFVS) of the right eye associated with microphthalmia, bilateral optic nerve and optic chiasm hypoplasia, and absence of the neurohypophysis. ( 24015435 )
2013
11
Differentials and approach to leukocoria. ( 23589950 )
2013
12
Leukocoria and retinoblastoma--pitfalls of the digital age? ( 22445238 )
2012
13
Leukocoria in a child with sturge-weber syndrome. ( 24028881 )
2012
14
A child with leukocoria. ( 22158277 )
2011
15
Leukocoria and vitreous hemorrhage as the initial manifestation of sickle retinopathy in a 3-year, 6-month-old child with sickle trait (AS). ( 21985230 )
2011
16
Uveitis presenting with decreased vision and leukocoria. ( 20971415 )
2010
17
Leukocoria and irregular pupil. ( 20006238 )
2010
18
Retinoblastoma presenting as strabismus and leukocoria. ( 20869724 )
2010
19
Off-Axis Digital Flash Photography: a Common Cause of Artefact Leukocoria in Children. ( 20055333 )
2010
20
One-and-a-half year old child with leukocoria. ( 21120057 )
2010
21
Question: can you identify this condition? Answer: leukocoria. ( 20154249 )
2010
22
Femtosecond-assisted anterior lamellar corneal staining-tattooing in a blind eye with leukocoria. ( 19158567 )
2009
23
Radiological reasoning: leukocoria in a child. ( 18716075 )
2008
24
Bilateral leukocoria in infant with afibrinogenemia. ( 19668740 )
2008
25
Leukocoria in children. ( 18524199 )
2008
26
Differential diagnosis of leukocoria and strabismus, first presenting signs of retinoblastoma. ( 19668520 )
2007
27
Bilateral leukocoria in a patient with homozygous protein C deficiency. ( 17603727 )
2007
28
Leukocoria caused by intraocular heterotopic brain tissue. ( 15006859 )
2004
29
Leukocoria. ( 15064521 )
2004
30
An unusual case of leukocoria: heterotopic brain arising from the retina. ( 12523898 )
2003
31
Phakic implantation of a black intraocular lens in a blind eye with leukocoria. ( 12686259 )
2003
32
Unilateral leukocoria in off axis flash photographs of normal eyes. ( 12719083 )
2003
33
Black intraocular lens for leukocoria. ( 11292082 )
2001
34
Black intraocular lens for leukocoria. ( 11008059 )
2000
35
Utility of pupillary dilation for detecting leukocoria in patients with retinoblastoma. ( 10506269 )
1999
36
Leukocoria caused by occult penetrating trauma in a child. ( 9222249 )
1997
37
Efficacy of unanesthetized spiral computed tomography scanning in initial evaluation of childhood leukocoria. ( 9097772 )
1995
38
Reversible leukocoria associated with clinically significant diabetic macular edema. ( 7721125 )
1995
39
A 5-month-old black boy presented with leukocoria and a "glassy look" in his right eye: Coats' disease. ( 8487315 )
1993
40
Acute infantile leukocoria. ( 2185638 )
1990
41
Ocular trauma following amniocentesis as the cause of leukocoria. ( 3411423 )
1988
42
Leukocoria: CT diagnosis. ( 3506880 )
1986
43
Infantile leukocoria caused by posterior lenticonus. ( 6476701 )
1984
44
Ocular toxocariasis presenting as leukocoria in a patient with low ELISA titer to Toxocara canis. ( 7322480 )
1981
45
Leukocoria-pseudoglioma. ( 5763569 )
1969
46
Ultrasonic aid in the evaluation of leukocoria. ( 5694202 )
1968

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 11.54 FZD4 LRP5
2
Show member pathways
11.44 FZD4 LRP5
3 10.84 FZD4 LRP5
4
Show member pathways
10.45 FZD4 LRP5
5 10.07 FZD4 LRP5

GO Terms for Leukocoria

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.61 FZD4 LRP5 NDP
2 Wnt signaling pathway GO:0016055 9.54 FZD4 LRP5 NDP
3 positive regulation of DNA binding transcription factor activity GO:0051091 9.5 FZD4 LRP5 NDP
4 sensory perception of sound GO:0007605 9.46 FZD4 NDP
5 canonical Wnt signaling pathway GO:0060070 9.43 FZD4 LRP5 NDP
6 cellular response to leukemia inhibitory factor GO:1990830 9.4 EFHC2 FZD4
7 retinal blood vessel morphogenesis GO:0061304 9.16 FZD4 LRP5
8 retina vasculature morphogenesis in camera-type eye GO:0061299 9.13 FZD4 LRP5 NDP
9 extracellular matrix-cell signaling GO:0035426 8.8 FZD4 LRP5 NDP

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

# Name GO ID Score Top Affiliating Genes
1 Wnt-protein binding GO:0017147 8.96 FZD4 LRP5
2 Wnt-activated receptor activity GO:0042813 8.62 FZD4 LRP5

Sources for Leukocoria

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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