Disease #01361

Official abbreviation BFH;TBMN
Name hematuria, benign, familial (BFH, thin basement membrane nephropathy (TBMN))
OMIM ID 141200
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 190
Phenotype entries for this disease 190
Associated with 1 gene COL4A3
Associated tissues -
Disease features -
Remarks -


Individuals

190 entries on 2 pages. Showing entries 1 - 100.
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00091304 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091306 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091310 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091315 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091318 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN no hearing loss; no ocular phenotype; COL4A3 COL4A3 1 1 Judy Savige
00091319 - PubMed: Hoefele 2010 - M - Italy - - 0 - - BFH;TBMN Paternal Grandfather ESRD at 70; no hearing loss; no ocular phenotype; COL4A3 COL4A3 1 1 Judy Savige
00091322 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091323 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091324 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091325 - PubMed: Hoefele 2010 - M - Italy - - 0 - - BFH;TBMN no hearing loss; no ocular phenotype; COL4A3 COL4A3 1 1 Judy Savige
00091326 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091331 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091332 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091335 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091336 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091340 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091346 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091347 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091351 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091352 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091353 - PubMed: Longo 2002 - - - Italy - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091354 - PubMed: Rana 2007 - - - Australia - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091355 - PubMed: Rana 2007 - - - Australia - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091357 - PubMed: Tazon Vega 2003 - F - Spain - - 0 - - BFH;TBMN Micro-haematuria.; no hearing loss; no ocular phenotype; COL4A3 COL4A3 1 1 Judy Savige
00091359 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091362 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091363 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091364 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN Hematuria COL4A3 COL4A3 1 1 Judy Savige
00091366 - PubMed: Wang 2004 - F - Australia - - 0 - - BFH;TBMN micro-hematuria; no hearing loss; glomerulus abnormal; COL4A3 COL4A3 1 1 Judy Savige
00091370 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091371 - PubMed: Wang 2004 - - - Australia - - 0 - - BFH;TBMN micro-hematuria; no hearing loss; glomerulus abnormal; COL4A3 COL4A3 1 1 Judy Savige
00091372 - PubMed: Wang 2004 - - - Australia - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091375 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091376 - PubMed: Wang 2004 - - - Australia - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091377 - PubMed: Rana 2007 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091379 - PubMed: Wang 2004 - - - Australia - - 0 - - BFH;TBMN micro-haematuria; no hearing loss; glomerulus abnormal; COL4A3 COL4A3 1 1 Judy Savige
00091389 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091391 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN micro-hematuria; no hearing loss; glomerulus abnormal; COL4A3 COL4A3 1 1 Judy Savige
00091392 - PubMed: Wang 2004 - - - Italy - - 0 - - BFH;TBMN micro-haematuria, proteinuria.; no hearing loss; glomerulus abnormal; COL4A3 COL4A3 1 1 Judy Savige
00091393 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN Micro-haematuria, Serum creatinine: 0.8mg/dL. ; no hearing loss; glomerulus abnormal; COL4A3 COL4A3 1 1 Judy Savige
00091395 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091400 - PubMed: Longo 2002 adopted, family not studied F - Italy - - 0 - - BFH;TBMN TBMN (ADAS?); micro-haematuria, proteinuria;; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091401 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091404 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN Benign Haematuria; no hearing loss; glomerulus abnormal; COL4A3 COL4A3 1 1 Judy Savige
00091407 - PubMed: Slajpah 2007 - F - Slovenia - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091420 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091438 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091439 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091451 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Judy Savige
00091461 - PubMed: Hoefele 2010 - M - Italy - - 0 - - BFH;TBMN no hearing loss; no ocular phenotype; COL4A3 COL4A3 1 1 Judy Savige
00091462 - PubMed: Hoefele 2010 - M - Italy - - 0 - - BFH;TBMN no hearing loss; no ocular phenotype; COL4A3 COL4A3 1 1 Judy Savige
00091463 - PubMed: Hoefele 2010 - M - Italy - - 0 - - BFH;TBMN no hearing loss; no ocular phenotype; COL4A3 COL4A3 1 1 Judy Savige
00091509 - - COL4A3 variant present in mother (haematuria), sister (haematuria, mild proteinuria and FSGS), brother (ESRF and FSGS), daughter (haematuria). F - - Britain/Spain - 0 - - BFH;TBMN Microscopic haematuria and <1g/day proteinuria. Biopsy shows FSGS and 20% tubular atrophy. EM: Foot process effacement, few mesangial electron dense desposits, GBMs very thin but thick in places with splitting.; no hearing loss; no ocular phenotype; glomerulus abnormal COL4A3 COL4A3 3 1 Daniel Gale
00091510 - + Additional relatives with deafness and haematuria. F - - British - 0 - - BFH;TBMN Microscopic haematuria and deafness in Mother and son. Biopsy in son shows TBMN.; hearing loss; COL4A3 COL4A3 2 1 Daniel Gale
00091666 - - - F - Hungary - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Gabor Kovacs
00091667 - - - M - Hungary - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Gabor Kovacs
00091668 - - - F - Hungary - - 0 - - BFH;TBMN - COL4A3 COL4A3 1 1 Gabor Kovacs
00091829 - PubMed: Gross 2003 - M - Germany - - 0 - - BFH;TBMN Intermitant macrohaematuria, weak kidneys. COL4A4 COL4A4 1 1 Judy Savige
00091848 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091849 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091850 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091851 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091852 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091853 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091854 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091855 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091856 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091857 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091858 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091859 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091860 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091861 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091862 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091863 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091864 - PubMed: Badenas 2002 - F - Spain - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091865 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091866 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091867 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091868 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091869 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091870 - PubMed: Tazon Vega 2003 - M - Spain - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091871 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091872 - PubMed: Badenas 2002 - M - Spain - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091873 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091874 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091875 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091876 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091877 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091878 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091879 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091880 - PubMed: Badenas 2002 - M - Spain - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091881 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091884 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091885 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091886 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091887 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091888 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091889 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091890 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
00091891 - PubMed: Baek 2009 - - - Korea - - 0 - - BFH;TBMN glomerulus abnormal; COL4A4 COL4A4 1 1 Judy Savige
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