MCID: SCL047
MIFTS: 26

Sclerocornea

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Sclerocornea

MalaCards integrated aliases for Sclerocornea:

Name: Sclerocornea 12 29 6 44 15 73
Isolated Congenital Sclerocornea 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060252
MeSH 44 C565209
UMLS 73 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 microphthalmia. An important gene associated with Sclerocornea is HCCS (Holocytochrome C Synthase). Affiliated tissues include eye, skin and retina, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 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:

26 (show all 23)
# 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

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 29

Anatomical Context for Sclerocornea

MalaCards organs/tissues related to Sclerocornea:

41
Eye, Skin, Retina, Heart

Publications for Sclerocornea

Articles related to Sclerocornea:

(show all 32)
# 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
Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. ( 7995071 )
1994
27
Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. ( 8116666 )
1994
28
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. ( 8267001 )
1993
29
Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects. ( 1519653 )
1992
30
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. ( 1559352 )
1992
31
Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. ( 6999913 )
1980
32
Sclerocornea associated with the Smith-Lemli-Opitz syndrome. ( 900220 )
1977

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 camera-type eye development GO:0043010 8.62 FOXE3 RAX

Sources for Sclerocornea

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
Content
Loading form....