Microphthalmia, Syndromic 3
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
|
24498598 |
2013 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].
|
8741917 |
1996 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
BEFREE |
The role of SOX2 in dental development remains unknown, however, multiple supernumerary teeth can be considered as extraocular symptoms of SOX2 anophthalmia syndrome, rather than the coincidence of two rare diseases.
|
20803647 |
2010 |
Microphthalmia, Syndromic 3
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
|
24033328 |
2014 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
|
21326281 |
2011 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetic architecture of microphthalmia, anophthalmia and coloboma.
|
24859618 |
2014 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.
|
29371155 |
2018 |
Microphthalmia, Syndromic 3
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome.
|
27862890 |
2017 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SOX2 cause anophthalmia.
|
12612584 |
2003 |
Microphthalmia, Syndromic 3
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Parent-of-origin effects in SOX2 anophthalmia syndrome.
|
22171155 |
2011 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.
|
16283891 |
2005 |
Microphthalmia, Syndromic 3
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
The recurrent de novo frameshift mutation c.70del20 was identified in one patient with microphthalmia and syndromic anomalies consistent with SOX2 anophthalmia syndrome; the mutation frequency in our A/M population (4%) was lower than previously reported; it is likely that extensive utilization of clinical SOX2 testing has led to a bias toward SOX2-negative A/M cases in our research cohort.
|
20454695 |
2010 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Microphthalmia, Syndromic 3
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SOX2 cause anophthalmia.
|
12612584 |
2003 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
BEFREE |
Sex determining region Y (SRY)-box 2 (SOX2) anophthalmia syndrome is an autosomal dominant disorder manifesting as severe developmental eye malformations associated with brain, esophageal, genital, and kidney abnormalities.
|
22171155 |
2011 |
Microphthalmia, Syndromic 3
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
|
24033328 |
2014 |
Microphthalmia, Syndromic 3
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
|
19921648 |
2009 |
Microphthalmia, Syndromic 3
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
|
16543359 |
2006 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Microphthalmia, Syndromic 3
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.
|
24211324 |
2014 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data show that mutations in SOX2 can cause not only anophthalmia, but also aplasia of the optic nerve, chiasm and optic tract, as well as modest bilateral sensorineural hearing loss, and global developmental delay, underscoring the importance of SOX2 in early human eye and brain development.
|
16145681 |
2005 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
|
18385794 |
2008 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings emphasize the importance of testing for SOX2 variants in individuals with HH and genital anomalies even though anophthalmia or microphthalmia are not observed.
|
29371155 |
2018 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Individuals with SOX2 mutations have major eye abnormalities including anophthalmia, microphthalmia, and coloboma.
|
18987493 |
2008 |