Okihiro Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Okihiro Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Okihiro syndrome is caused by SALL4 mutations.
|
12393809 |
2002 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Okihiro syndrome is caused by SALL4 mutations.
|
12393809 |
2002 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
|
12395297 |
2002 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
|
12395297 |
2002 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SALL4 mutations may also cause acro-renal-ocular syndrome (AROS), which differs from DRRS by the presence of structural eye anomalies, and phenotypes similar to thalidomide embryopathy and Holt-Oram syndrome (HOS).
|
16086360 |
2005 |
Okihiro Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
SALL4 mutations may also cause acro-renal-ocular syndrome (AROS), which differs from DRRS by the presence of structural eye anomalies, and phenotypes similar to thalidomide embryopathy and Holt-Oram syndrome (HOS).
|
16086360 |
2005 |
Okihiro Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.
|
6426304 |
1984 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Besides, the absence of Spalt like transcription factor 4 (SALL4) mutation excluded the diagnosis of acro-renal-ocular syndrome (AROS), of which clinical characteristics are similar to our patient's.
|
29054766 |
2018 |
Okihiro Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart.
|
16380715 |
2006 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore we confirm the overlap of acro-renal-ocular syndrome with Okihiro syndrome at the molecular level and expand the phenotype of SALL4 mutations.
|
12843316 |
2003 |
Okihiro Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Furthermore we confirm the overlap of acro-renal-ocular syndrome with Okihiro syndrome at the molecular level and expand the phenotype of SALL4 mutations.
|
12843316 |
2003 |
Okihiro Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Furthermore, we demonstrated that anorectal and heart anomalies in Okihiro syndrome are caused by Sall4 haploinsufficiency and that Sall4/Sall1 heterozygotes exhibited an increased incidence of anorectal and heart anomalies, exencephaly and kidney agenesis.
|
16790473 |
2006 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency for SALL4 due to nonsense or frameshift mutations has been associated with acro-renal ocular syndrome that is characterized by eye defects including Duane anomaly and coloboma, in addition to radial ray malformations and renal abnormalities.
|
27661448 |
2017 |
Okihiro Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we report the detection and molecular characterization of four novel, overlapping microdeletions, all spanning SALL4 and flanking genes, in four unrelated cases with features of Okihiro syndrome and variable degrees of psychomotor delay.
|
17623483 |
2007 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SALL4 have been identified in patients with Okihiro syndrome, which is characterized by radial ray anomalies associated with a Duane anomaly.
|
16411190 |
2006 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Notably, previous studies demonstrated the genetic involvement of SALL4 loss-of-function variants in Okihiro syndrome and related syndromic developmental disorders.
|
30603774 |
2019 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
|
26791099 |
2016 |
Okihiro Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
|
26791099 |
2016 |
Okihiro Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Prominent expression in the developing midbrain, branchial arches and the limbs suggests an important function of SALL4 during development of these structures as expected from the observation in Okihiro syndrome patients.
|
12826753 |
2002 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently mutations of the SALL4 gene on chromosome 20 have been linked to DRS associated with radial forearm malformations (Okihiro syndrome).
|
21405998 |
2011 |
Okihiro Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SAL-Like 4 (SALL4) gene mutations have been identified to be the cause of Okihiro syndrome which is characterized by association limb and multiple other organ developmental defects including heart defect.
|
19619907 |
2010 |
Okihiro Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome.
|
30067223 |
2018 |
Okihiro Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome.
|
30067223 |
2018 |