MCID: SCL047
MIFTS: 28

Sclerocornea

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Sclerocornea

MalaCards integrated aliases for Sclerocornea:

Name: Sclerocornea 12 30 6 45 15 74
Isolated Congenital Sclerocornea 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060252
MeSH 45 C565209
UMLS 74 C1853235

Summaries for Sclerocornea

Disease Ontology : 12 A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.

MalaCards based summary : Sclerocornea, also known as isolated congenital sclerocornea, is related to linear skin defects with multiple congenital anomalies 1 and sclerocornea, autosomal dominant. An important gene associated with Sclerocornea is HCCS (Holocytochrome C Synthase). Affiliated tissues include eye, skin and endothelial, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 Sclerocornea is a congenital anomaly of the eye in which the cornea blends with sclera, having no... more...

Related Diseases for Sclerocornea

Graphical network of the top 20 diseases related to Sclerocornea:



Diseases related to Sclerocornea

Symptoms & Phenotypes for Sclerocornea

GenomeRNAi Phenotypes related to Sclerocornea according to GeneCards Suite gene sharing:

27 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.74 RAX
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.74 RAX
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.74 HCCS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.74 HCCS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.74 FOXE3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.74 RAX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.74 FOXE3 HCCS RAX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.74 RAX
9 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.74 HCCS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.74 RAX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.74 FOXE3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.74 RAX
13 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.74 RAX
14 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.74 FOXE3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.74 HCCS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.74 FOXE3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.74 RAX
18 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.74 HCCS RAX
19 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.74 RAX
20 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.74 HCCS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.74 HCCS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.74 RAX
23 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.74 RAX
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.65 FOXE3
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.65 FOXE3
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.65 FOXE3
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.65 FOXE3
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.65 FOXE3 HCCS
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.65 FOXE3
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.65 HCCS
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.65 HCCS
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.65 HCCS

Drugs & Therapeutics for Sclerocornea

Search Clinical Trials , NIH Clinical Center for Sclerocornea

Cochrane evidence based reviews: sclerocornea

Genetic Tests for Sclerocornea

Genetic tests related to Sclerocornea:

# Genetic test Affiliating Genes
1 Sclerocornea 30

Anatomical Context for Sclerocornea

MalaCards organs/tissues related to Sclerocornea:

42
Eye, Skin, Endothelial, Retina

Publications for Sclerocornea

Articles related to Sclerocornea:

(show top 50) (show all 51)
# Title Authors Year
1
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature. ( 29878917 )
2018
2
Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. ( 29088057 )
2018
3
New mutations in GJA8 expand the phenotype to include total sclerocornea. ( 28455998 )
2017
4
A method to preserve limbus during penetrating keratoplasty for a case of presumed PHACES syndrome with sclerocornea: A case report. ( 27741106 )
2016
5
Corneal Leukoma with Features of Both Sclerocornea and Peter's Anomaly. ( 27549880 )
2016
6
Sclerocornea. ( 26025687 )
2015
7
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. ( 24478002 )
2014
8
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. ( 25149931 )
2014
9
Epithelial phenotype in total sclerocornea. ( 24744607 )
2014
10
Immunohistochemical expression and distribution of proteoglycans and collagens in sclerocornea. ( 23325424 )
2013
11
An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village. ( 24019743 )
2013
12
Clinical outcome of penetrating keratoplasty in patients 5 years or younger: peters anomaly versus sclerocornea. ( 24104853 )
2013
13
Unilateral sclerocornea and tracheal stenosis: unusual findings in a patient with Goldenhar anomaly. ( 22059460 )
2011
14
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. ( 20664696 )
2010
15
MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities. ( 19726975 )
2009
16
Anterior segment dysgenesis: Peters anomaly and sclerocornea. ( 18427259 )
2008
17
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. ( 18324686 )
2008
18
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? ( 17893649 )
2007
19
Sclerocornea and cornea plana are distinct entities. ( 17472807 )
2007
20
Sulphation patterns of keratan sulphate proteoglycan in sclerocornea resemble cornea rather than sclera. ( 16488970 )
2006
21
Sclerocornea. ( 15817979 )
2005
22
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. ( 14662654 )
2004
23
Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). ( 15249380 )
2004
24
A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS. ( 12401994 )
2002
25
Localization of B2 bradykinin receptor mRNA in the rat retina and sclerocornea. ( 10614989 )
1999
26
An XX male with microphthalmos and sclerocornea. ( 9559515 )
1998
27
Ultrasound biomicroscopy and histopathology of sclerocornea. ( 9676919 )
1998
28
Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. ( 7995071 )
1994
29
Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. ( 8116666 )
1994
30
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. ( 8267001 )
1993
31
Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects. ( 1519653 )
1992
32
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. ( 1559352 )
1992
33
Sclerocornea and interstitial deletion of the short arm of chromosome 6--(46XY del[6] [p22 p24]). ( 1432504 )
1992
34
A child with sclerocornea, short limbs, short stature, and distinct facial appearance. ( 3055984 )
1988
35
Keratoplasty for sclerocornea in early infancy. ( 3322995 )
1987
36
Hereditary sclerocornea. ( 3910620 )
1985
37
Hereditary sclerocornea. ( 3994576 )
1985
38
Sclerocornea (in 3 siblings). ( 7112691 )
1982
39
Keratoplasty in babies with sclerocornea. To do or not to do? Report of an unsuccessful case. ( 7044855 )
1981
40
Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. ( 6999913 )
1980
41
Ultrastructure and successful keratoplasty of sclerocornea in Mietens' syndrome. ( 6999882 )
1980
42
Congenital sclerocornea in Nigerian children. ( 521876 )
1979
43
Sclerocornea associated with the Smith-Lemli-Opitz syndrome. ( 900220 )
1977
44
Mesenchymal dysgenesis in Peter's anomaly, sclerocornea and congenital endothelial dystrophy. ( 1100415 )
1975
45
Sclerocornea with an unbalanced translocation (17p, 10q). ( 4835053 )
1974
46
Sclerocornea associated with Dandy-Walker cyst. ( 4835054 )
1974
47
Spontaneous perforation of congenital sclerocornea. ( 4558144 )
1972
48
The fine structure of sclerocornea. ( 4937656 )
1971
49
Sclerocornea. ( 4996988 )
1971
50
Penetrating keratoplasty in an infant with sclerocornea. ( 4918435 )
1970

Variations for Sclerocornea

ClinVar genetic disease variations for Sclerocornea:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(18;20)(q21.1;p11.23)dn Translocation Uncertain significance

Expression for Sclerocornea

Search GEO for disease gene expression data for Sclerocornea.

Pathways for Sclerocornea

GO Terms for Sclerocornea

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

# Name GO ID Score Top Affiliating Genes
1 lens development in camera-type eye GO:0002088 8.96 FOXE3 GJA8
2 camera-type eye development GO:0043010 8.8 FOXE3 GJA8 RAX

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.8 FOXE3 RAX ZFHX4

Sources for Sclerocornea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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