Disease #01417 (SLE (lupus erythematosus, systemic, susceptibility to (SLE)), OMIM:152700)

Official abbreviation SLE
Name lupus erythematosus, systemic, susceptibility to (SLE)
OMIM ID 152700
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 33
Phenotype entries for this disease 31
Associated with 8 genes BANK1, C4A, CTLA4, DNASE1, FCGR2A, FCGR2B, PTPN22, TREX1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

33 entries on 1 page. Showing entries 1 - 33.
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00112351 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112364 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112366 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus TREX1 ATRIP, TREX1 2 1 Boukje de Vries
00112369 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus TREX1 TREX1 1 1 Boukje de Vries
00112371 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus TREX1 TREX1 1 1 Boukje de Vries
00112377 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112380 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112381 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112382 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112383 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus TREX1 TREX1 1 1 Boukje de Vries
00112386 - PubMed: de Vries 2010 heterozygous mutation - - - - - - - - SLE neurophsychiatric systemic lupus erythematosus TREX1 TREX1 1 1 Boukje de Vries
00431573 case/control PubMed: Jiang 2021, Journal: Jiang 2021 - - - Australia - - - - - SLE - VANGL1 VANGL1 1 1 Johan den Dunnen
00431574 - Journal: Alcantara-Ortigoza 2024 analysis 66 pediatric SLE cases with/without nephritis - - Mexico - - - - - SLE - VANGL1 VANGL1 1 1 Miguel Angel Alcántara-Ortigoza
00460330 Fam1PatA1 PubMed: Al-Mayouf 2011 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 - DNASE1L3 1 3 Johan den Dunnen
00460331 Fam1PatB3 PubMed: Al-Mayouf 2011 sister F yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 - DNASE1L3 1 1 Johan den Dunnen
00460332 Fam1PatC2 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 - DNASE1L3 1 1 Johan den Dunnen
00460333 Fam2PatA PubMed: Al-Mayouf 2011 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin - DNASE1L3 1 4 Johan den Dunnen
00460334 Fam2PatB PubMed: Al-Mayouf 2011 relative M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin - DNASE1L3 1 1 Johan den Dunnen
00460335 Fam2PatC PubMed: Al-Mayouf 2011 relative F yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin - DNASE1L3 1 1 Johan den Dunnen
00460336 Fam2PatD PubMed: Al-Mayouf 2011 relative M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin - DNASE1L3 1 1 Johan den Dunnen
00460337 Fam3PatA1 PubMed: Al-Mayouf 2011 4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 - DNASE1L3 1 2 Johan den Dunnen
00460338 Fam3PatB2 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 - DNASE1L3 1 1 Johan den Dunnen
00460339 Fam4PatA2 PubMed: Al-Mayouf 2011 4-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 - DNASE1L3 1 2 Johan den Dunnen
00460340 Fam4PatB1 PubMed: Al-Mayouf 2011 sister F yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 - DNASE1L3 1 1 Johan den Dunnen
00460341 Fam5PatA6 PubMed: Al-Mayouf 2011 4-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and c4 - DNASE1L3 1 4 Johan den Dunnen
00460342 Fam5PatB2 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, low c3 and c4 - DNASE1L3 1 1 Johan den Dunnen
00460343 Fam5PatC1 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4 - DNASE1L3 1 1 Johan den Dunnen
00460344 Fam5PatD4 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4, anti-cardiolipin - DNASE1L3 1 1 Johan den Dunnen
00460345 Fam6PatA1 PubMed: Al-Mayouf 2011 4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4 - DNASE1L3 1 2 Johan den Dunnen
00460346 Fam6PatB2 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4 - DNASE1L3 1 1 Johan den Dunnen
00460347 Pat1 PubMed: Volpi 2024 - M - Italy white - - - - SLE see paper; ..., kidney disease; interstitial lung disease, pleuritis, pericarditis, hepatosplenomegaly, ascites, recurrent fever; seroid-resistant nephrotic syndrome; serology positive antinuclear antibody (1:160), low C3 (76 mg/dL) and C4 (9 mg/dL); membranous nephropathy with focal endo- and extracapillary proliferative lesions; IF mesangial and subepithelial IgG +++, IgA++, IgM++, C3+, and C1q+; EM thickening of glomerular basement membrane, podocyte foot process effacement, subepithelial and mesangial electron-dense deposits; 17y-kidney transplant; graft survival 2y (graft loss due to acute rejection) DNASE1L3 DNASE1L3 1 1 Johan den Dunnen
00460348 Pat2 PubMed: Volpi 2024 - M - Italy white - - - - SLE see paper; ..., kidney disease, alopecia, interstitial lung disease, hepatosplenomegaly, ascites, urticarial macular rash, necrotic skin lesions, polyarthritis, lymphadenopathy, recurrent fever; acute kidney injury, nephrotic-range proteinuria, microhematuria, hypertension; serology positive antinuclear antibody (1:320), anti-CL and MPO-ANCA (>200 ELISA units/mL), low C3 (40 mg/dL) and C4 (8 mg/dL); IF 1st biopsy necrotizing crescentic glomerulonephritis; IF 2nd biopsy diffuse necrotizing crescentic glomerulonephritis with endo- and extracapillary proliferation; 16y-kidney transplant; graft survival 3y (functioning graft at last follow-up) DNASE1L3 DNASE1L3 1 1 Johan den Dunnen
00460349 Pat3 PubMed: Volpi 2024 - F - Italy white - - - - SLE see paper; ..., kidney disease, malar rash, urticarial macular rash, polyarthritis, recurrent fever; subnephrotic proteinuria, microhematuria; serology positive antinuclear antibody (1:640), anti-dsDNA, low C3 (53 mg/dL) and C4 (4 mg/dL); thrombotic microangiopathy and immune-complex glomerulonephritis with mesangial and extracapillary proliferation; IF mesangial, subepithelial and subendothelial IgG++, IgA+, IgM+, C3++, and C4+; 13y-kidney transplant; graft survival 3y (functioning graft at last follow-up) DNASE1L3 DNASE1L3 2 1 Johan den Dunnen
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