DLX5, distal-less homeobox 5, 1749

N. diseases: 69; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027796
Disease: Neuralgia
Neuralgia 		0.010 Biomarker phenotype BEFREE Anxiety-like manifestations of neuropathic pain were aggravated in CMV-MOP and DLX5/6-MOP knockouts. 31655493 2020
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.010 AlteredExpression phenotype BEFREE IGF2R expression was significantly decreased in placentas from pregnancies complicated by idiopathic FGR (P < 0.05 versus control). siRNA-mediated IGF2R knockdown in term placental explants and the trophoblast cell line BeWo resulted in altered expression of homeobox gene transcription factors, including increased expression of distal-less homeobox gene 5 (DLX5), and decreased expression of H2.0-Like Homeobox 1 (HLX) (P < 0.05 versus control). 31418778 2019
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.010 Biomarker disease BEFREE The present study investigated a family with SHFM and hypodontia; determined the sequences of DLX5, WNT8B, WNT10B, BHLHA9, CDH3, DYNC1I1 and FGFR1; and performed single nucleotide polymorphism-array analysis. 31420900 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 AlteredExpression group BEFREE Dlx5/6-inactivation in the mouse results in a phenotype reminiscent of NTDs characterized by open thoracic and lumbar vertebral arches and failure of epaxial muscle formation at the dorsal midline. 30889190 2019
CUI: C0041948
Disease: Uremia
Uremia 		0.010 Biomarker disease BEFREE In conclusion, these findings highlight that DLX5 regulates Notch signaling, which may, in turn, promote complications of uremia such as kidney fibrosis, providing a novel therapeutic target for treating uremia. 31297803 2019
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		0.010 Biomarker disease BEFREE In conclusion, these findings highlight that DLX5 regulates Notch signaling, which may, in turn, promote complications of uremia such as kidney fibrosis, providing a novel therapeutic target for treating uremia. 31297803 2019
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder) 		0.010 Biomarker disease BEFREE The semiquantitative assessment was applied to verify the effects of DLX5 on glomerulosclerosis. 31297803 2019
CUI: C0424139
Disease: Anxiety and fear
Anxiety and fear 		0.010 GeneticVariation disease BEFREE In addition, aged Plcg1<sup>F/F</sup>; Dlx5/6-Cre mice exhibit other behavioral alterations, including hypoactivity, reduced anxiety, and fear memory deficit. 31780806 2019
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 Biomarker disease BEFREE We identified a signature of 30 genes similarly deregulated in human endometriosis implants and in <i>Dlx5/6</i>-null mouse uteri, reinforcing the notion that the downregulation of <i>Dlx5/6</i> is an early event in the progress of endometriosis. 29692624 2018
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.010 Biomarker disease BEFREE These findings suggest that regulatory cascades involving DLX5/6 might be at the origin of endometriosis symptoms such as chronic pelvic pain (CPP). 29692624 2018
CUI: C0404484
Disease: Chronic pelvic pain of female
Chronic pelvic pain of female 		0.010 Biomarker phenotype BEFREE These findings suggest that regulatory cascades involving DLX5/6 might be at the origin of endometriosis symptoms such as chronic pelvic pain (CPP). 29692624 2018
CUI: C0553694
Disease: Oropharyngeal disorders
Oropharyngeal disorders 		0.010 Biomarker group BEFREE The Dlx5-FGF10 signaling cascade controls cranial neural crest and myoblast interaction during oropharyngeal patterning and development. 28982687 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 Biomarker disease BEFREE The Dlx5 homeodomain is a transcription factor related to the Drosophila distal-less gene that is associated with breast and lung cancer, lymphoma, Rett syndrome and osteoporosis in humans. 26829219 2016
CUI: C0031099
Disease: Periodontitis
Periodontitis 		0.010 GeneticVariation disease BEFREE Transcriptome analysis of periodontitis-associated fibroblasts by CAGE sequencing identified DLX5 and RUNX2 long variant as novel regulators involved in periodontitis. 27645561 2016
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 Biomarker disease BEFREE The Dlx5 homeodomain is a transcription factor related to the Drosophila distal-less gene that is associated with breast and lung cancer, lymphoma, Rett syndrome and osteoporosis in humans. 26829219 2016
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 Biomarker disease BEFREE The Dlx5 homeodomain is a transcription factor related to the Drosophila distal-less gene that is associated with breast and lung cancer, lymphoma, Rett syndrome and osteoporosis in humans. 26829219 2016
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 AlteredExpression disease BEFREE Comparative expression pattern analysis revealed the involvement of catabolic enzymes (MMP1, -2, -13, ADAM10), chemokines (IL8, CCL2, CXCL2, CXCL12, CCXL14), and genes associated with cell death (TNFSF10, PMAIPI, AHR) and skeletal development (GPNMB, FRZB) including transcription factors (WIF1, DLX5, TWIST1) and growth factors (IGFBP1, -3, TGFB1) consistent with published data from human OA cartilage. 24635637 2014
CUI: C0740404
Disease: Limb defects
Limb defects 		0.010 Biomarker group BEFREE While double knockout of Dlx5 and Dlx6 resulted in limb defects in mice, the majority of patients with SHFM1 had only heterozygous chromosomal abnormalities. 25332435 2014
CUI: C1839730
Disease: Prieto X-linked mental retardation syndrome
Prieto X-linked mental retardation syndrome 		0.010 GeneticVariation disease BEFREE This prompted the sequencing of DLX5 and DLX6 in a human cohort with CP, where a missense mutation within the highly conserved DLX5 homeobox of a patient with PRS was identified. 24699068 2014
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 Biomarker disease BEFREE Gli3(Xt-J/Xt-J) Runx2(+/-) mice have neither craniosynostosis nor additional ossification centers in interfrontal suture and displayed a normalization of Dlx5, Runx2-II, and pSmad1/5/8 expression as well as sutural mesenchymal cell proliferation. 22547067 2012
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 AlteredExpression disease BEFREE Functional studies demonstrated a significant reduction in downstream DLX5 and DLX6 expression in ACS cases in assays using cultured osteoblasts from probands and controls. 22560091 2012
CUI: C1785148
Disease: RAPP-HODGKIN SYNDROME
RAPP-HODGKIN SYNDROME 		0.010 GeneticVariation disease BEFREE Rapp-Hodgkin Syndrome (RHS) is a genetic disorder resulting from mutations in the TP63 gene encoding p63 transcription factor. p63 is directly associated with a cis-regulatory element on chromosome 7q21 that controls the expression of DLX5 and DLX6 genes which are involved in craniofacial abnormalities and ectrodactyly or split hand/foot malformation (SHFM). 22342398 2012
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.010 Biomarker disease BEFREE Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency. 21505076 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 Biomarker disease BEFREE We show that: (i) allelic reduction of Dlx5 and Dlx6 in the mouse results in a POI-like phenotype, characterized by reduced fertility and early follicular exhaustion; (ii) in granulosa cell lines, a reciprocal regulation exists between Dlx5 and Foxl2; (iii) in the mouse ovary, allelic reduction of Dlx5/6 results in the upregulation of Foxl2. 21505076 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE Our studies indicate that DLX genes are involved in human breast cancer progression, and that DLX2 and DLX5 genes might serve as prognostic markers. 21108812 2010