Phenotypes for disease #01417 (SLE (lupus erythematosus, systemic, susceptibility to (SLE)), OMIM:152700)

31 entries on 1 page. Showing entries 1 - 31.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000087915 systemic lupus erythematosus - - Unknown - - - - - Boukje de Vries 00112351
0000087928 systemic lupus erythematosus - - Unknown - - - - - Boukje de Vries 00112364
0000087930 systemic lupus erythematosus - - Unknown - - - - - Boukje de Vries 00112366
0000087933 systemic lupus erythematosus - - Unknown - - - - - Boukje de Vries 00112369
0000087935 systemic lupus erythematosus - - Unknown - - - - - Boukje de Vries 00112371
0000087941 systemic lupus erythematosus - - Unknown - - - - - Boukje de Vries 00112377
0000087944 systemic lupus erythematosus - - Unknown - - - - - Boukje de Vries 00112380
0000087945 systemic lupus erythematosus - - Unknown - - - - - Boukje de Vries 00112381
0000087946 systemic lupus erythematosus - - Unknown - - - - - Boukje de Vries 00112382
0000087947 systemic lupus erythematosus - - Unknown - - - - - Boukje de Vries 00112383
0000087950 neurophsychiatric systemic lupus erythematosus - - Unknown - - - - - Boukje de Vries 00112386
0000348062 no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 3.5y - 2y - - Johan den Dunnen 00460330
0000348063 no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 9.5y - 4y - - Johan den Dunnen 00460331
0000348064 nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 11y - 5y - - Johan den Dunnen 00460332
0000348065 nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin systemic lupus erythematosus SLEB16 Familial, autosomal recessive 11y - 2.5y - - Johan den Dunnen 00460333
0000348066 nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin systemic lupus erythematosus SLEB16 Familial, autosomal recessive 5y - 4.5y - - Johan den Dunnen 00460334
0000348067 nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin systemic lupus erythematosus SLEB16 Familial, autosomal recessive 10y - 6y - - Johan den Dunnen 00460335
0000348068 nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin systemic lupus erythematosus SLEB16 Familial, autosomal recessive 6y - 4.5y - - Johan den Dunnen 00460336
0000348069 nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 4.5y - 3y - - Johan den Dunnen 00460337
0000348070 nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 15y - 2y - - Johan den Dunnen 00460338
0000348071 no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 12y - 4.5y - - Johan den Dunnen 00460339
0000348072 nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 9y - 8y - - Johan den Dunnen 00460340
0000348073 nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and c4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 13y - 3y - - Johan den Dunnen 00460341
0000348074 nephritis; serology anti-nuclear antibody, low c3 and c4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 10y - 5y - - Johan den Dunnen 00460342
0000348075 nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 22y - 12y - - Johan den Dunnen 00460343
0000348076 no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4, anti-cardiolipin systemic lupus erythematosus SLEB16 Familial, autosomal recessive 24y - 11y - - Johan den Dunnen 00460344
0000348077 no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 14y - 6y - - Johan den Dunnen 00460345
0000348078 no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4 systemic lupus erythematosus SLEB16 Familial, autosomal recessive 12y - 11y - - Johan den Dunnen 00460346
0000348079 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) systemic lupus erythematosus SLEB16 Familial, autosomal recessive 19y - 5y - - Johan den Dunnen 00460347
0000348080 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) systemic lupus erythematosus SLEB16 Familial, autosomal recessive 19y - 7y - - Johan den Dunnen 00460348
0000348081 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) systemic lupus erythematosus SLEB16 Familial, autosomal recessive 16y - 4y - - Johan den Dunnen 00460349
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