MCID: SX2001
MIFTS: 14

Sox2-Related Eye Disorders

Aliases & Classifications for Sox2-Related Eye Disorders

MalaCards integrated aliases for Sox2-Related Eye Disorders:

Name: Sox2-Related Eye Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance appears to be complete for non-mosaic loss-of-function pathogenic variants.

Summaries for Sox2-Related Eye Disorders

MalaCards based summary : Sox2-Related Eye Disorders is related to microphthalmia, syndromic 3 and microphthalmia. An important gene associated with Sox2-Related Eye Disorders is SIX6 (SIX Homeobox 6), and among its related pathways/superpathways is Ectoderm Differentiation. Affiliated tissues include eye, pituitary and brain.

GeneReviews: NBK1300

Related Diseases for Sox2-Related Eye Disorders

Diseases related to Sox2-Related Eye Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 3 31.7 SOX2 SIX6
2 microphthalmia 29.4 SOX2 SIX6
3 tracheoesophageal fistula with or without esophageal atresia 10.2
4 cryptorchidism, unilateral or bilateral 10.2
5 pseudovaginal perineoscrotal hypospadias 10.2
6 fryns microphthalmia syndrome 10.2
7 hypogonadotropic hypogonadism 10.2
8 esophageal atresia 10.2
9 hypogonadism 10.2
10 pituitary hypoplasia 10.2
11 hypogonadotropism 10.2
12 learning disability 10.2

Graphical network of the top 20 diseases related to Sox2-Related Eye Disorders:



Diseases related to Sox2-Related Eye Disorders

Symptoms & Phenotypes for Sox2-Related Eye Disorders

Drugs & Therapeutics for Sox2-Related Eye Disorders

Search Clinical Trials , NIH Clinical Center for Sox2-Related Eye Disorders

Genetic Tests for Sox2-Related Eye Disorders

Anatomical Context for Sox2-Related Eye Disorders

MalaCards organs/tissues related to Sox2-Related Eye Disorders:

41
Eye, Pituitary, Brain

Publications for Sox2-Related Eye Disorders

Articles related to Sox2-Related Eye Disorders:

(show all 33)
# Title Authors PMID Year
1
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 4
24033328 2014
2
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation. 4
24457197 2014
3
A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency. 4
24211324 2014
4
Whole-genome copy number variation analysis in anophthalmia and microphthalmia. 4
23701296 2013
5
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. 4
24498598 2013
6
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. 4
21326281 2011
7
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. 4
20494911 2010
8
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. 4
19921648 2009
9
Novel SOX2 partner-factor domain mutation in a four-generation family. 4
19471311 2009
10
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. 4
18831064 2008
11
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. 4
18285410 2008
12
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. 4
18385794 2008
13
The role of SOX2 in hypogonadotropic hypogonadism. 4
18987493 2008
14
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. 4
17522144 2007
15
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. 4
17219395 2007
16
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. 4
16932809 2006
17
Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. 4
16892407 2006
18
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. 4
16712695 2006
19
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. 4
16543359 2006
20
Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. 4
16470798 2006
21
Role of SOX2 mutations in human hippocampal malformations and epilepsy. 4
16529618 2006
22
Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. 4
16283891 2005
23
Heterozygous mutations of OTX2 cause severe ocular malformations. 4
15846561 2005
24
SOX2 anophthalmia syndrome. 4
15812812 2005
25
Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. 4
15503273 2004
26
Mutations in SOX2 cause anophthalmia. 4
12612584 2003
27
Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region. 4
12461687 2002
28
Distinct roles of SOX2, Pax6 and Maf transcription factors in the regulation of lens-specific delta1-crystallin enhancer. 4
12167158 2002
29
Identification of Sox-2 regulatory region which is under the control of Oct-3/4-Sox-2 complex. 4
12136102 2002
30
Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development. 4
11358870 2001
31
Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5). 4
11135495 2000
32
Modulation of the activity of multiple transcriptional activation domains by the DNA binding domains mediates the synergistic action of Sox2 and Oct-3 on the fibroblast growth factor-4 enhancer. 4
10801796 2000
33
SOX2-Related Eye Disorders 38
20301477 2006

Variations for Sox2-Related Eye Disorders

Expression for Sox2-Related Eye Disorders

Search GEO for disease gene expression data for Sox2-Related Eye Disorders.

Pathways for Sox2-Related Eye Disorders

Pathways related to Sox2-Related Eye Disorders according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 SOX2 SIX6

GO Terms for Sox2-Related Eye Disorders

Cellular components related to Sox2-Related Eye Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.62 SOX2 SIX6

Biological processes related to Sox2-Related Eye Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.16 SOX2 SIX6
2 multicellular organism development GO:0007275 8.96 SOX2 SIX6
3 eye development GO:0001654 8.62 SOX2 SIX6

Molecular functions related to Sox2-Related Eye Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 8.62 SOX2 SIX6

Sources for Sox2-Related Eye Disorders

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
Content
Loading form....