MCID: SCL047
MIFTS: 27

Sclerocornea

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Sclerocornea

MalaCards integrated aliases for Sclerocornea:

Name: Sclerocornea 12 29 42 14 69
Isolated Congenital Sclerocornea 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060252
MeSH 42 C565209
UMLS 69 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 anterior segment dysgenesis 7, with sclerocornea and sclerocornea, autosomal dominant. An important gene associated with Sclerocornea is HCCS (Holocytochrome C Synthase). Affiliated tissues include eye, skin and retina, and related phenotype is Increased shRNA abundance (Z-score > 2).

Wikipedia : 72 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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.72 RAX
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 RAX
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.72 HCCS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.72 FOXE3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.72 RAX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.72 FOXE3 HCCS RAX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.72 RAX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.72 HCCS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 RAX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.72 FOXE3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 RAX
12 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.72 RAX
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.72 FOXE3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.72 HCCS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.72 FOXE3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.72 RAX
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 HCCS RAX
18 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.72 RAX
19 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.72 HCCS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.72 HCCS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 RAX
22 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.72 RAX
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.7 FOXE3
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.7 HCCS
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.7 FOXE3
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.7 FOXE3
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.7 FOXE3
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.7 HCCS FOXE3
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.7 FOXE3
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.7 HCCS
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.7 HCCS
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.7 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:

id Genetic test Affiliating Genes
1 Sclerocornea 29

Anatomical Context for Sclerocornea

MalaCards organs/tissues related to Sclerocornea:

39
Eye, Skin, Retina, Heart

Publications for Sclerocornea

Articles related to Sclerocornea:

(show all 30)
id Title Authors Year
1
New mutations in GJA8 expand the phenotype to include total sclerocornea. ( 28455998 )
2017
2
A method to preserve limbus during penetrating keratoplasty for a case of presumed PHACES syndrome with sclerocornea: A case report. ( 27741106 )
2016
3
Corneal Leukoma with Features of Both Sclerocornea and Peter's Anomaly. ( 27549880 )
2016
4
Sclerocornea. ( 26025687 )
2015
5
Epithelial phenotype in total sclerocornea. ( 24744607 )
2014
6
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. ( 25149931 )
2014
7
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. ( 24478002 )
2014
8
Immunohistochemical expression and distribution of proteoglycans and collagens in sclerocornea. ( 23325424 )
2013
9
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
10
Clinical outcome of penetrating keratoplasty in patients 5 years or younger: peters anomaly versus sclerocornea. ( 24104853 )
2013
11
Unilateral sclerocornea and tracheal stenosis: unusual findings in a patient with Goldenhar anomaly. ( 22059460 )
2011
12
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. ( 20664696 )
2010
13
MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities. ( 19726975 )
2009
14
Anterior segment dysgenesis: Peters anomaly and sclerocornea. ( 18427259 )
2008
15
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. ( 18324686 )
2008
16
Sclerocornea and cornea plana are distinct entities. ( 17472807 )
2007
17
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? ( 17893649 )
2007
18
Sulphation patterns of keratan sulphate proteoglycan in sclerocornea resemble cornea rather than sclera. ( 16488970 )
2006
19
Sclerocornea. ( 15817979 )
2005
20
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. ( 14662654 )
2004
21
Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). ( 15249380 )
2004
22
A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS. ( 12401994 )
2002
23
Localization of B2 bradykinin receptor mRNA in the rat retina and sclerocornea. ( 10614989 )
1999
24
Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. ( 8116666 )
1994
25
Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. ( 7995071 )
1994
26
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. ( 8267001 )
1993
27
Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects. ( 1519653 )
1992
28
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. ( 1559352 )
1992
29
Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. ( 6999913 )
1980
30
Sclerocornea associated with the Smith-Lemli-Opitz syndrome. ( 900220 )
1977

Variations for Sclerocornea

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:

id Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 8.62 FOXE3 RAX

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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