Aliases & Classifications for Sox2 Disorder

MalaCards integrated aliases for Sox2 Disorder:

Name: Sox2 Disorder 25

Characteristics:

GeneReviews:

25
Penetrance Penetrance appears to be complete for nonmosaic loss-of-function pathogenic variants. although normal eye development is possible in sox2 disorder, all such individuals had extraocular defects.

Summaries for Sox2 Disorder

MalaCards based summary : Sox2 Disorder is related to microphthalmia and esophageal atresia. An important gene associated with Sox2 Disorder is SIX6 (SIX Homeobox 6), and among its related pathways/superpathways is Ectoderm Differentiation. Affiliated tissues include eye and pituitary.

Wikipedia : 73 SRY (sex determining region Y)-box 2, also known as SOX2, is a transcription factor that is essential... more...

GeneReviews: NBK1300

Related Diseases for Sox2 Disorder

Graphical network of the top 20 diseases related to Sox2 Disorder:



Diseases related to Sox2 Disorder

Symptoms & Phenotypes for Sox2 Disorder

Drugs & Therapeutics for Sox2 Disorder

Search Clinical Trials , NIH Clinical Center for Sox2 Disorder

Genetic Tests for Sox2 Disorder

Anatomical Context for Sox2 Disorder

MalaCards organs/tissues related to Sox2 Disorder:

40
Eye, Pituitary

Publications for Sox2 Disorder

Articles related to Sox2 Disorder:

(show all 43)
# Title Authors PMID Year
1
Anophthalmia including next-generation sequencing-based approaches. 25
31358957 2020
2
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. 25
31700164 2020
3
Genetic testing for inherited ocular conditions in a developing country. 25
32141364 2020
4
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. 25
29464339 2019
5
Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with SOX2-anophthalmia syndrome. 25
30945433 2019
6
NAA10 polyadenylation signal variants cause syndromic microphthalmia. 25
30842225 2019
7
Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations. 25
31005762 2019
8
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. 25
30476213 2019
9
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. 25
30450772 2018
10
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant. 25
29371155 2018
11
Direct reprogramming with SOX factors: masters of cell fate. 25
28662445 2017
12
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. 25
28659543 2017
13
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. 25
27862890 2017
14
Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations. 25
27427475 2016
15
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. 25
26130484 2016
16
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 25
26694549 2016
17
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
18
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia. 25
25542770 2015
19
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 25
24033328 2014
20
The genetic architecture of microphthalmia, anophthalmia and coloboma. 25
24859618 2014
21
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. 25
24804704 2014
22
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation. 25
24457197 2014
23
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. 25
24498598 2013
24
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. 25
21340693 2011
25
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. 25
21326281 2011
26
Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. 25
20574025 2011
27
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. 25
19921648 2009
28
Novel SOX2 partner-factor domain mutation in a four-generation family. 25
19471311 2009
29
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. 25
18831064 2008
30
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. 25
18285410 2008
31
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. 25
18385794 2008
32
The role of SOX2 in hypogonadotropic hypogonadism. 25
18987493 2008
33
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. 25
17219395 2007
34
Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. 25
16892407 2006
35
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. 25
16543359 2006
36
Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. 25
16470798 2006
37
Role of SOX2 mutations in human hippocampal malformations and epilepsy. 25
16529618 2006
38
Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. 25
16283891 2005
39
SOX2 anophthalmia syndrome. 25
15812812 2005
40
Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. 25
15503273 2004
41
Mutations in SOX2 cause anophthalmia. 25
12612584 2003
42
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. 25
12461687 2002
43
SOX2 Disorder 61
20301477 2006

Variations for Sox2 Disorder

Expression for Sox2 Disorder

Search GEO for disease gene expression data for Sox2 Disorder.

Pathways for Sox2 Disorder

Pathways related to Sox2 Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 SOX2 SIX6

GO Terms for Sox2 Disorder

Cellular components related to Sox2 Disorder 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 Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 eye development GO:0001654 8.62 SOX2 SIX6

Sources for Sox2 Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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