SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38
Disease: Uranostaphyloschisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.390 Biomarker disease BEFREE SATB2-associated syndrome is one example of a syndromic cleft palate that is accompanied by intellectual disability, and various dental anomalies. 30848049 2019
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.390 Biomarker disease BEFREE In the meta-analysis, we also did not find that the SATB2 was associated with nonsyndromic cleft palate risk, in Asians or in Caucasians. 30511632 2018
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.390 Biomarker disease BEFREE Haploinsufficiency of SATB2 causes cleft palate, intellectual disability with deficient speech, facial and dental abnormalities, and other variable features known collectively as SATB2-associated syndrome. 27409069 2016
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.390 GeneticVariation disease BEFREE SATB2 variants should be considered in cases with psychomotor retardation alone or in any cases with Rett-like phenotypes, regardless of the typical features of SAS such as cleft palate. 26596517 2016
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.390 GeneticVariation disease BEFREE In humans, chromosomal translocations and deletions of 2q33.1 leading to SATB2 haploinsufficiency are associated with cleft palate (CP), facial dysmorphism and intellectual disability (ID). 24301056 2014
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.390 AlteredExpression disease BEFREE Here, we show that AEC p63 mutations affect the ability of the p63 protein to interact with special AT-rich binding protein-2 (SATB2), which has recently also been implicated in the development of cleft palate. p63 and SATB2 are co-expressed early in development in the ectoderm of the first and second branchial arches, two essential sites where signaling is required for craniofacial patterning. 21965674 2011
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.390 GeneticVariation disease BEFREE One patient in this cohort has a deletion entirely within SATB2 and has a cleft palate, whereas several patients with larger deletions have a high arched palate. 21343628 2011
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.390 GeneticVariation disease BEFREE Whilst there is some variation in the phenotypes of patients with 2q3 deletions all share a commonly deleted region within 2q33.1 which includes SATB2, a gene previously shown to be associated with cleft palate. 19576302 2010
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.390 GeneticVariation disease BEFREE Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 17377962 2007
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.390 Biomarker disease MGD We find that, similar to the way in which SATB2 is perceived to act in humans, craniofacial defects due to haploinsufficiency of Satb2, including cleft palate (in approximately 25% of cases), phenocopy those seen with 2q32-q33 deletions and translocations in humans. 16960803 2006
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.390 CausalMutation disease CLINVAR