MCID: CRN007
MIFTS: 21

Corneal Staphyloma

Categories: Eye diseases

Aliases & Classifications for Corneal Staphyloma

MalaCards integrated aliases for Corneal Staphyloma:

Name: Corneal Staphyloma 12 15 72

Classifications:



External Ids:

Disease Ontology 12 DOID:12753
ICD9CM 35 371.73
SNOMED-CT 68 52476003
ICD10 33 H18.72
UMLS 72 C0152440

Summaries for Corneal Staphyloma

MalaCards based summary : Corneal Staphyloma is related to kabuki syndrome 1 and peters-plus syndrome. An important gene associated with Corneal Staphyloma is WFDC1 (WAP Four-Disulfide Core Domain 1), and among its related pathways/superpathways are PKMTs methylate histone lysines and Lysine degradation. Affiliated tissues include eye, and related phenotype is cellular.

Related Diseases for Corneal Staphyloma

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 kabuki syndrome 1 29.1 KMT2D KMT2B
2 peters-plus syndrome 10.3
3 retinoblastoma 10.0
4 digeorge syndrome 10.0
5 renal hypodysplasia/aplasia 1 10.0
6 velocardiofacial syndrome 10.0
7 yemenite deaf-blind hypopigmentation syndrome 10.0
8 primary congenital glaucoma 10.0
9 sclerocornea 10.0
10 anterior segment dysgenesis 10.0
11 keratoconus 10.0
12 microphthalmia 10.0
13 congenital aphakia 10.0
14 blind hypotensive eye 10.0
15 ventricular septal defect 10.0
16 heart septal defect 10.0
17 atrial heart septal defect 10.0
18 familial retinoblastoma 10.0
19 microcephaly 10.0
20 facial cleft 10.0
21 isolated growth hormone deficiency type iii 9.6 KMT2D KMT2B

Graphical network of the top 20 diseases related to Corneal Staphyloma:



Diseases related to Corneal Staphyloma

Symptoms & Phenotypes for Corneal Staphyloma

MGI Mouse Phenotypes related to Corneal Staphyloma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.02 KMT2B KMT2D SNCA TRPV6 WFDC1

Drugs & Therapeutics for Corneal Staphyloma

Search Clinical Trials , NIH Clinical Center for Corneal Staphyloma

Genetic Tests for Corneal Staphyloma

Anatomical Context for Corneal Staphyloma

MalaCards organs/tissues related to Corneal Staphyloma:

41
Eye

Publications for Corneal Staphyloma

Articles related to Corneal Staphyloma:

(show all 38)
# Title Authors PMID Year
1
Post-Ocular Trauma Corneal Staphyloma in a Child Living in an Underdeveloped Region of Eastern Indonesia. 38
29681830 2018
2
Congenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf. 38
28529272 2017
3
George Critchett (1817-1882) and His Son George Anderson Critchett (1845-1925). 38
27815340 2017
4
Ultrasonographic characteristics of congenital corneal staphyloma. 38
27033873 2016
5
Peters anomaly in cri-du-chat syndrome. 38
26059676 2015
6
A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma. 38
23834556 2014
7
[Penetrating keratoplasty in high-risk children: prevention of graft rejection]. 38
25098116 2014
8
Anterior segment optical coherence tomography in congenital corneal opacities. 38
22959105 2012
9
Congenital corneal staphyloma as a complication of Kabuki syndrome. 38
22786791 2012
10
Prevalence of eye diseases and causes of visual impairment in school-aged children in Western China. 38
22123227 2012
11
Clinical features and surgical treatment of peripheral staphyloma. 38
21045651 2011
12
Clinical spectrum of congenital corneal staphyloma: a case report. 38
22003758 2011
13
Histopathological features in a case of peters' anomaly with acquired corneal staphyloma. 38
22606460 2011
14
A girl with Peters plus syndrome associated with myelomeningocele and chronic renal failure. 38
20424881 2010
15
[Intensive intracorneal keloid formation in a case of Peters plus syndrome and in Peters anomaly with maximum manifestation]. 38
19756642 2010
16
Congenital corneal staphyloma. 38
23198071 2009
17
Complete bilateral facial cleft (Tessier 4) with corneal staphyloma: a rare association. 38
18926197 2008
18
Congenital corneal staphyloma treated by evisceration and primary implant placement: 3 cases. 38
18204493 2008
19
[Corneal staphyloma-anterior chamber agenesia-microphakia syndrome]. 38
16485232 2006
20
Congenital corneal staphyloma associated with aphakia. 38
15206605 2004
21
Causes of blindness at the "Wiyata Guna" School for the Blind, Indonesia. 38
12928266 2003
22
Corneoscleral transplantation in congenital corneal staphyloma and Peters' anomaly. 38
12660867 2003
23
Peters' anomaly associated with protruding corneal pseudo staphyloma. 38
9520192 1998
24
Causes of removal of the eye in Ethiopia. 38
8904067 1995
25
Congenital corneal staphyloma. 38
7661758 1995
26
Childhood blindness in India: causes in 1318 blind school students in nine states. 38
8543070 1995
27
Unilateral congenital corneal staphyloma with retinal neovascularization. A case report. 38
1505761 1992
28
Balanced double complex translocations [46,XX,t(1p;6p;7p;3q;11p)(11q;22p;21q)] in an infant with multiple congenital anomalies. 38
3777028 1986
29
Congenital corneal staphyloma: clinical, radiological, and pathological correlation. 38
3718906 1986
30
Histopathologic and ultrastructural analysis of congenital corneal staphyloma. 38
6837694 1983
31
[Artificial scleral sinus with covering of recipient's cornea with cadaveric cornea for treating acute corneal staphyloma and keratoconus (author's transl)]. 38
7047884 1981
32
[Corneal staphyloma (author's transl)]. 38
6788999 1981
33
[Congenital corneal staphyloma]. 38
7418042 1980
34
[Congenital corneal staphyloma with aphakia]. 38
5072939 1972
35
[Combined congenital corneal staphyloma and Peters' malformation (recurrence of staphyloma following keratoplasty)]. 38
4582035 1972
36
[On histology and genesis of congenital corneal staphyloma]. 38
5667016 1968
37
[Corneal staphyloma with dominant heredity]. 38
13546832 1958
38
[Congenital corneal staphyloma; anatomical study]. 38
13413637 1956

Variations for Corneal Staphyloma

Expression for Corneal Staphyloma

Search GEO for disease gene expression data for Corneal Staphyloma.

Pathways for Corneal Staphyloma

Pathways related to Corneal Staphyloma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 KMT2D KMT2B
2 10.39 KMT2D KMT2B

GO Terms for Corneal Staphyloma

Cellular components related to Corneal Staphyloma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone methyltransferase complex GO:0035097 8.62 KMT2D KMT2B

Biological processes related to Corneal Staphyloma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.26 KMT2D KMT2B
2 regulation of megakaryocyte differentiation GO:0045652 9.16 KMT2D KMT2B
3 calcium ion homeostasis GO:0055074 8.96 TRPV6 SNCA
4 histone H3-K4 methylation GO:0051568 8.62 KMT2D KMT2B

Molecular functions related to Corneal Staphyloma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methyltransferase activity GO:0008168 9.26 KMT2D KMT2B
2 histone binding GO:0042393 9.16 SNCA KMT2D
3 histone-lysine N-methyltransferase activity GO:0018024 8.96 KMT2D KMT2B
4 histone methyltransferase activity (H3-K4 specific) GO:0042800 8.62 KMT2D KMT2B

Sources for Corneal Staphyloma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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