SALL4, spalt like transcription factor 4, 57167

N. diseases: 245; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 GeneticVariation disease BEFREE This finding illustrates that the phenotypic and functional effects of SALL4 missense mutations are difficult to predict, and that other SALL4 missense mutations might lead to phenotypes not overlapping with Okihiro syndrome. 16402211 2006
CUI: C1623209
Disease: Okihiro Syndrome
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
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 GeneticVariation disease UNIPROT This finding illustrates that the phenotypic and functional effects of SALL4 missense mutations are difficult to predict, and that other SALL4 missense mutations might lead to phenotypes not overlapping with Okihiro syndrome. 16402211 2006
CUI: C1623209
Disease: Okihiro Syndrome
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
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 GeneticVariation disease BEFREE The authors examined four male and two female affected members of a pedigree previously reported to cosegregate DRRS and a heterozygous SALL4 mutation. 18055799 2007
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 GeneticVariation disease BEFREE Okihiro syndrome is caused by SALL4 mutations. 12393809 2002
CUI: C1623209
Disease: Okihiro Syndrome
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
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 GeneticVariation disease BEFREE Novel frameshift variant in gene SALL4 causing Okihiro syndrome. 26791099 2016
CUI: C1623209
Disease: Okihiro Syndrome
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
CUI: C1623209
Disease: Okihiro Syndrome
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
CUI: C1623209
Disease: Okihiro Syndrome
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
CUI: C1623209
Disease: Okihiro Syndrome
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
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 GeneticVariation disease UNIPROT Okihiro syndrome is caused by SALL4 mutations. 12393809 2002
CUI: C1623209
Disease: Okihiro Syndrome
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
CUI: C1623209
Disease: Okihiro Syndrome
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
CUI: C1623209
Disease: Okihiro Syndrome
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
CUI: C1327918
Disease: Oculootoradial syndrome
Oculootoradial syndrome 		0.610 GeneticVariation disease BEFREE Since 2002, mutations in the SALL4 locus have been reported producing phenotypic features quite similar to those in IVIC syndrome; this gene was thus proposed as a candidate for the condition. 17256792 2007
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 GeneticVariation disease BEFREE We identified a novel truncating mutation in the SALL4 gene that leads to diversified clinical features of DRS in a Chinese family. 23687435 2013
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 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
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 GeneticVariation disease BEFREE In prior studies, the transcription factors SALL4 and HOXA1 were identified as the genes mutated in DRS with radial anomalies, and in DRS with deafness, vascular anomalies, and cognitive deficits, respectively. 17197532 2007
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 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
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 GeneticVariation disease LHGDN SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. 15342710 2004
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 GeneticVariation disease BEFREE In this prospective, non-interventional study we screened for SALL4 mutations in 72 patients clinically diagnosed as having isolated DRS or DRS associated syndromes. 21405998 2011
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 GeneticVariation disease LHGDN Okihiro syndrome is caused by SALL4 mutations. 12393809 2002
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 GeneticVariation disease LHGDN SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development. 12395297 2002