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
Individuals reported having this disease 191
Phenotype entries for this disease 191
Associated with 1 gene COL4A3
Associated tissues -
Disease features -
Remarks -


Individuals

191 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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