MCID: SCL047
MIFTS: 32

Sclerocornea

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sclerocornea

MalaCards integrated aliases for Sclerocornea:

Name: Sclerocornea 12 29 6 43 15 71
Isolated Congenital Sclerocornea 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060252
MeSH 43 C565209
UMLS 71 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 cataract microcornea syndrome. An important gene associated with Sclerocornea is SIX6 (SIX Homeobox 6). Affiliated tissues include eye, skin and endothelial, and related phenotype is embryo.

Wikipedia : 74 Sclerocornea is a congenital anomaly of the eye in which the cornea blends with sclera, having no... more...

Related Diseases for Sclerocornea

Diseases in the Sclerocornea family:

Sclerocornea, Autosomal Dominant

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

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 linear skin defects with multiple congenital anomalies 1 33.9 HCCS COX7B
2 cataract microcornea syndrome 32.1 GJA8 CRYAA
3 anterior segment dysgenesis 30.8 TENM3 PAX6 FOXE3 FOXC1 CRYAA B3GLCT
4 cornea plana 30.5 SIX6 FOXC1 CRYAA
5 microphthalmia, isolated 3 29.8 RAX PAX6 HCCS
6 congenital aphakia 29.8 RAX PAX6 FOXE3
7 pathologic nystagmus 29.7 SIX6 PAX6 CRYAA
8 microphthalmia 29.5 TENM3 SIX6 RAX PAX6 HCCS GJA8
9 persistent hyperplastic primary vitreous 29.5 PAX6 FOXE3 FOXC1
10 intraocular pressure quantitative trait locus 29.3 PAX6 FOXC1 CRYAA
11 aniridia 1 29.2 PAX6 FOXE3 FOXC1 CRYAA
12 cataract 29.0 SIX6 PAX6 GJA8 FOXE3 FOXC1 CRYAA
13 coloboma of macula 28.9 SIX6 RAX PAX6 FOXE3 FOXC1 CRYAA
14 peters-plus syndrome 28.1 PAX6 LINC01111 FOXE3 FOXC1 CRYAA B3GLCT
15 sclerocornea, autosomal dominant 12.6
16 anterior segment dysgenesis 7 12.3
17 rodrigues blindness 11.4
18 microphthalmia, isolated, with coloboma 9 11.3
19 corneal dystrophy and perceptive deafness 11.2
20 anterior segment dysgenesis 2 11.2
21 disuse amblyopia 10.2 FOXE3 CRYAA
22 cataract 9, multiple types 10.2 GJA8 CRYAA
23 orbital cyst 10.2 RAX HCCS FOXE3
24 early-onset nuclear cataract 10.2 GJA8 CRYAA
25 cataract 1, multiple types 10.2 GJA8 CRYAA
26 isolated microphthalmia 10.2 SIX6 RAX FOXE3
27 cataract 44 10.1 GJA8 CRYAA
28 focal dermal hypoplasia 10.1
29 fryns microphthalmia syndrome 10.1
30 joint laxity, short stature, and myopia 10.1
31 blepharophimosis 10.1
32 microcephaly 10.1
33 myopia 10.1
34 cornea plana 1, autosomal dominant 10.0
35 hypertelorism 10.0
36 strabismus 10.0
37 chromosome 2q35 duplication syndrome 10.0
38 digeorge syndrome 10.0
39 fraser syndrome 1 10.0
40 hallermann-streiff syndrome 10.0
41 smith-lemli-opitz syndrome 10.0
42 opitz gbbb syndrome, type i 10.0
43 van den ende-gupta syndrome 10.0
44 yemenite deaf-blind hypopigmentation syndrome 10.0
45 astigmatism 10.0
46 ventricular fibrillation, paroxysmal familial, 1 10.0
47 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.0
48 al-gazali syndrome 10.0
49 ehlers-danlos syndrome, spondylodysplastic type, 2 10.0
50 autosomal recessive disease 10.0

Graphical network of the top 20 diseases related to Sclerocornea:



Diseases related to Sclerocornea

Symptoms & Phenotypes for Sclerocornea

MGI Mouse Phenotypes related to Sclerocornea:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.17 ARHGAP6 COX7B FOXC1 GJA8 HCCS PAX6

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:

40
Eye, Skin, Endothelial, Brain, Retina, Heart

Publications for Sclerocornea

Articles related to Sclerocornea:

(show top 50) (show all 158)
# Title Authors PMID Year
1
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. 61
32193685 2020
2
[Keratoplasty in children : Indications and results]. 61
31713069 2020
3
Causes of congenital corneal opacities and their management in a tertiary care center. 61
32159591 2020
4
Clinicopathologic Features and Treatment Characteristics of Congenital Corneal Opacity Infants and Children Aged 3 Years or Less: A Retrospective Single Institution Analysis. 61
31247621 2020
5
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. 61
31053785 2019
6
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. 61
29464339 2019
7
A sclerocornea-associated RAD21 variant induces corneal stroma disorganization. 61
31173765 2019
8
Bespoke ocular prostheses. 61
30837709 2019
9
A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree. 61
31781308 2019
10
Visual Outcomes and Prognostic Factors of Successful Penetrating Keratoplasty in 0- to 7-Year-Old Children With Congenital Corneal Opacities. 61
30052558 2018
11
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature. 61
29878917 2018
12
FOXE3 mutations: genotype-phenotype correlations. 61
29136273 2018
13
A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans. 61
29713869 2018
14
[Keratoplasty in Children and Adolescents]. 61
28192842 2018
15
Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. 61
29088057 2018
16
New mutations in GJA8 expand the phenotype to include total sclerocornea. 61
28455998 2018
17
[Clinical effects of pediatric penetrating keratoplasty for congenital corneal opacity]. 61
29325387 2017
18
Effectiveness of timely intraoperative iodine irrigation during cataract surgery. 61
27550429 2016
19
A method to preserve limbus during penetrating keratoplasty for a case of presumed PHACES syndrome with sclerocornea: A case report. 61
27741106 2016
20
Corneal Leukoma with Features of Both Sclerocornea and Peter's Anomaly. 61
27549880 2016
21
8q21.11 microdeletion in two patients with syndromic peters anomaly. 61
27378168 2016
22
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. 61
26130484 2016
23
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 61
26694549 2016
24
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. 61
27777502 2016
25
Sclerocornea. 61
26025687 2015
26
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. 61
25772934 2015
27
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. 61
24939590 2015
28
New corneal findings in chromosome 10 deletion syndrome: report of two cases of corneal ectasia of varying severity. 61
24079751 2015
29
[Ultrasound biomicroscopy in infants with congenital corneal opacity and its correlations with clinical diagnosis and intraocular pressure]. 61
25731046 2015
30
A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma. 61
23834556 2014
31
Pediatric genetic disease of the cornea. 61
27625877 2014
32
Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome. 61
25291437 2014
33
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. 61
25149931 2014
34
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. 61
24478002 2014
35
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. 61
24735900 2014
36
Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome. 61
24626674 2014
37
Epithelial phenotype in total sclerocornea. 61
24744607 2014
38
Immunohistochemical expression and distribution of proteoglycans and collagens in sclerocornea. 61
23325424 2013
39
Clinical outcome of penetrating keratoplasty in patients 5 years or younger: peters anomaly versus sclerocornea. 61
24104853 2013
40
Microphthalmia with linear skin defects syndrome. 61
22612277 2013
41
[Keratoplasty in children--still a dilemma]. 61
23794428 2013
42
An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village. 61
24019743 2013
43
A new approach to the classification of neonatal corneal opacities. 61
22871880 2012
44
Outcome of Boston Keratoprosthesis in a Developing Country-Importance of Patient Selection, Education, and Perioperative Care: The Indian Experience. 61
26107473 2012
45
Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome. 61
22229795 2012
46
Clinical features of anterior segment dysgenesis associated with congenital corneal opacities. 61
22157569 2012
47
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. 61
21340693 2011
48
Unilateral Peters' anomaly with chorioretinal coloboma in the other eye. 61
21976945 2011
49
[Cases of congenital eye malformations in children]. 61
22593986 2011
50
Chromosome abnormalities and the genetics of congenital corneal opacification. 61
21738392 2011

Variations for Sclerocornea

ClinVar genetic disease variations for Sclerocornea:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SIX6 NM_007374.3(SIX6):c.547G>C (p.Asp183His)SNV Pathogenic 637058 14:60976663-60976663 14:60509945-60509945
2 SIX6 NM_007374.3(SIX6):c.-227_572+235deldeletion Pathogenic 637953 14:60975886-60976919 14:60509168-60510201
3 46;XY;t(18;20)(q21.1;p11.23)dnTranslocation Uncertain significance 268042

Expression for Sclerocornea

Search GEO for disease gene expression data for Sclerocornea.

Pathways for Sclerocornea

GO Terms for Sclerocornea

Cellular components related to Sclerocornea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.02 SIX6 RAX PAX6 FOXE3 FOXC1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.88 SIX6 RAD21 PAX6 FOXE3 FOXC1
2 animal organ morphogenesis GO:0009887 9.63 SIX6 PAX6 HCCS
3 visual perception GO:0007601 9.56 SIX6 RAX PAX6 CRYAA
4 cornea development in camera-type eye GO:0061303 9.43 PAX6 FOXE3
5 iris morphogenesis GO:0061072 9.4 PAX6 FOXE3
6 positive regulation of core promoter binding GO:1904798 9.37 PAX6 FOXC1
7 lens development in camera-type eye GO:0002088 9.33 PAX6 GJA8 FOXE3
8 lacrimal gland development GO:0032808 9.32 PAX6 FOXC1
9 eye development GO:0001654 9.26 SIX6 PAX6 FOXE3 FOXC1
10 camera-type eye development GO:0043010 9.02 RAX PAX6 GJA8 FOXE3 FOXC1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.02 SIX6 RAX PAX6 FOXE3 FOXC1

Sources for Sclerocornea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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