ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 Biomarker disease CTD_human
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.460 GeneticVariation disease BEFREE LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation. 26724531 2016
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.460 GeneticVariation disease BEFREE Those findings were intriguing but also perplexing because many of the LMNA missense mutations associated with lipodystrophy are located in sequences distant from the sequences required for the farnesylation of prelamin A and ZMPSTE24-mediated conversion of prelamin A to mature lamin A. 27841971 2016
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.460 GeneticVariation disease BEFREE CIDEC is the disease gene for autosomal recessive, FPL and LMNA and ZMPSTE24 for autosomal recessive, mandibuloacral dysplasia-associated lipodystrophy. 21865368 2011
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.460 Biomarker disease BEFREE HIV protease inhibitors inhibit FACE1/ZMPSTE24: a mechanism for acquired lipodystrophy in patients on highly active antiretroviral therapy? 20074077 2010
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.460 Biomarker disease BEFREE We recently demonstrated that a commonly used HIV-PI, lopinavir, inhibits ZMPSTE24, thereby blocking lamin A biogenesis and leading to an accumulation of prelamin A. ZMPSTE24 deficiency in humans causes an accumulation of prelamin A and leads to lipodystrophy and other disease phenotypes. 18230615 2008
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.460 Biomarker disease BEFREE Defects in several genes, such as those encoding an enzyme (AGPAT2), a nuclear receptor (PPARgamma), a nuclear lamina protein (LMNA) and its processing endoprotease (ZMPSTE24), a kinase (AKT2), and a protein of unknown function (BSCL2), have been found in patients with genetic lipodystrophies. 16409151 2006
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.460 Biomarker disease CTD_human Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 12913070 2003
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.460 Biomarker disease HPO
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.310 Biomarker disease BEFREE However, the patients did not harbor any disease causing variants in LMNA or ZMPSTE24 and showed distinct characteristics such as sensorineural hearing loss and absence of clavicular hypoplasia and acroosteolysis. 20631028 2010
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.310 Biomarker disease BEFREE These observations suggest focal segmental glomerulosclerosis as a phenotypic manifestation in patients with ZMPSTE24 deficiency. 17152860 2006
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.310 Biomarker disease CTD_human These observations suggest focal segmental glomerulosclerosis as a phenotypic manifestation in patients with ZMPSTE24 deficiency. 17152860 2006
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.310 Biomarker disease CTD_human Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. 17152860 2006
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.310 Biomarker disease CTD_human Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 12913070 2003
CUI: C1136321
Disease: HIV-Associated Lipodystrophy Syndrome
HIV-Associated Lipodystrophy Syndrome 		0.300 Biomarker disease CTD_human A potent HIV protease inhibitor, darunavir, does not inhibit ZMPSTE24 or lead to an accumulation of farnesyl-prelamin A in cells. 18230615 2008
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular 		0.300 Biomarker disease CTD_human Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. 17152860 2006
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. 17152860 2006
CUI: C0024689
Disease: Mandibular Diseases
Mandibular Diseases 		0.300 Biomarker group CTD_human Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 12913070 2003
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.210 Biomarker disease BEFREE The associated mutant gene products include 1) nuclear lamin A in FPLD type 2 and MAD type A; 2) nuclear lamin B2 in APL; 3) nuclear hormone receptor peroxisome proliferator-activated receptor gamma in FPLD type 3; 4) lipid biosynthetic enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 in CGL type 1; 5) integral endoplasmic reticulum membrane protein seipin in CGL type 2; and 6) metalloproteinase ZMPSTE24 in MAD type B. 17374881 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.210 Biomarker disease MGD
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.200 Biomarker disease MGD
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.200 Biomarker disease MGD
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.200 Biomarker disease MGD
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		0.200 Biomarker disease MGD