Disease #01644

Official abbreviation ASAR
Name syndrome, Alport, autosomal dominant (ASAR)
OMIM ID 203780
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1018
Phenotype entries for this disease 1018
Associated with 2 genes COL4A3, COL4A4
Associated tissues -
Disease features -
Remarks -


Individuals

1018 entries on 11 pages. Showing entries 1 - 100.
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00091301 - PubMed: Longo 2002 - F - Italy - - 0 - - ASAR Micro-haematuria, proteinuria. CRF; hearing loss; glomerulus abnormal; COL4A3 COL4A3 2 1 Judy Savige
00091303 - PubMed: Tazon Vega 2003 - F - Spain - - 0 - - ASAR hearing loss; abnormal ocular COL4A3 COL4A3 2 1 Judy Savige
00091307 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 26 Judy Savige
00091308 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091316 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091317 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091328 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 14 Judy Savige
00091334 - PubMed: Heidet 2001 - F;M - - - - 0 - - ASAR 20y / 25y renal failure; renal failure; COL4A3 COL4A3 2 1 Judy Savige
00091339 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 11 Judy Savige
00091342 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091343 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091344 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 10 Judy Savige
00091345 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091349 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 5 Judy Savige
00091356 - PubMed: Tazon Vega 2003 consanguineous M - Spain - - 0 - - ASAR 37y renal failure; hearing loss; no ocular phenotype; renal failure COL4A3 COL4A3 1 1 Judy Savige
00091358 - PubMed: Rana 2007 - M - Italy - - 0 - - ASAR hearing loss; abnormal ocular COL4A3 COL4A3 1 1 Judy Savige
00091360 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091365 - PubMed: Longo 2006 consanguineous M - - Iraqi-Jewish - 0 - - ASAR Micro-haematuria, proteinuria. Type III Spinal Muscular Atrophy; 15y renal failure; hearing loss; abnormal ocular; renal failure COL4A3 COL4A3 1 1 Judy Savige
00091367 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091368 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 35 Judy Savige
00091373 - PubMed: Hou 2007 - M - China Han chinese - 0 - - ASAR haematuria proteinuria; 28y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal COL4A3 COL4A3 2 1 Judy Savige
00091374 - PubMed: Heidet 2001 - F - - - - 0 - - ASAR 23y renal failure; renal failure; COL4A3 COL4A3 2 1 Judy Savige
00091378 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091380 - PubMed: Tazon Vega 2003 - F - Spain - - 0 - - ASAR 38y renal failure; no hearing loss; no ocular phenotype; renal failure COL4A3 COL4A3 1 1 Judy Savige
00091381 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091384 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091385 - PubMed: Voskarides 2007 - - - Cyprus Greek-Cypriot - 0 - - ASAR Microscopic hematuria. COL4A3 COL4A3 1 3 Judy Savige
00091386 - PubMed: Pierides 2009 - - - Cyprus Greek-Cypriot - 0 - - ASAR progressive kidney failure COL4A3 COL4A3 1 4 Judy Savige
00091387 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091388 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 2 Judy Savige
00091390 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091394 - PubMed: Tazon Vega 2003 - F - Spain - - 0 - - ASAR no hearing loss; no ocular phenotype; COL4A3 COL4A3 2 1 Judy Savige
00091397 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 2 1 Judy Savige
00091398 - PubMed: Longo 2002 - F - Italy - - 0 - - ASAR micro-haematuria, proteinuria. CRF; hearing loss; glomerulus abnormal; COL4A3 COL4A3 2 1 Judy Savige
00091399 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091402 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091403 - PubMed: Tazon Vega 2003 - M - - - - 0 - - ASAR 52y renal failure; no hearing loss; no ocular phenotype; renal failure COL4A3 COL4A3 1 1 Judy Savige
00091405 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091406 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR Haematuria COL4A3 COL4A3 1 1 Judy Savige
00091408 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 2 1 Judy Savige
00091411 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR Micro-haematuria COL4A3 COL4A3 1 1 Judy Savige
00091412 - PubMed: Tazon Vega 2003 - F - Spain - - 0 - - ASAR hearing loss; no ocular phenotype; COL4A3 COL4A3 2 1 Judy Savige
00091413 - PubMed: Tazon Vega 2003 consanguineous M - Spain - - 0 - - ASAR hearing loss; no ocular phenotype; COL4A3 COL4A3 1 1 Judy Savige
00091414 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091415 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091418 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR Micro-haematuria COL4A3 COL4A3 1 1 Judy Savige
00091419 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 3 Judy Savige
00091423 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091424 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091425 - PubMed: Heidet 2001 - - - Cyprus Greek-Cypriot - 0 - - ASAR microscopic hematuria, Proteinuria, COL4A3 COL4A3 1 1 Judy Savige
00091426 - PubMed: Voskarides 2008 - - - Cyprus Greek-Cypriot - 0 - - ASAR progressive kidney failure COL4A3 COL4A3 1 7 Judy Savige
00091427 - PubMed: Pierides 2009 - - - Cyprus Greek-Cypriot - 0 - - ASAR progressive kidney failure COL4A3 COL4A3 1 6 Judy Savige
00091428 - PubMed: Heidet 2001 - - - Italy - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091429 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091430 - PubMed: Tazon Vega 2003 - M - Spain - - 0 - - ASAR 34y renal failure; hearing loss; no ocular phenotype; renal failure COL4A3 COL4A3 1 1 Judy Savige
00091431 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR Micro-haematuria COL4A3 COL4A3 1 1 Judy Savige
00091432 - PubMed: Lemmink 1994 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091433 - PubMed: Lemmink 1994 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091434 - PubMed: Lemmink 1994 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091437 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091440 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091441 - PubMed: Ding 1995 2-generation family, affected female, unaffected heterozygous carrier parents F - - - - 0 - - ASAR 20y renal failure; hearing loss; renal failure; glomerulus abnormal; COL4A3 COL4A3 1 1 Judy Savige
00091442 - PubMed: Mochizuki 1994 - F - Netherlands - - 0 - - ASAR 10y renal failure; hearing loss; renal failure; glomerulus abnormal; COL4A3 COL4A3 1 1 Judy Savige
00091443 - PubMed: Lemmink 1994 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091444 - PubMed: Mochizuki 1994 consanguineous F - - Belgian - 0 - - ASAR 11y renal failure; hearing loss; renal failure; glomerulus abnormal; COL4A3 COL4A3 1 1 Judy Savige
00091445 - PubMed: Lemmink 1994 - - - - - - 0 - - ASAR - COL4A3 COL4A3 2 1 Judy Savige
00091446 - PubMed: Knebelman 1995 - M - France - - 0 - - ASAR 14y renal failure; hearing loss; renal failure; COL4A3 COL4A3 2 1 Judy Savige
00091447 - PubMed: Knebelman 1995 - F - France - - 0 - - ASAR 15y renal failure; hearing loss; renal failure; COL4A3 COL4A3 2 1 Judy Savige
00091448 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091449 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - COL4A3 COL4A3 1 4 Judy Savige
00091450 - PubMed: Voskarides 2007 - - - Cyprus Greek-Cypriot - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091453 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091454 - PubMed: Cook 2008 - F - United States African American - 0 - - ASAR 15y renal failure; hearing loss; renal failure; glomerulus abnormal; COL4A3 COL4A3 1 2 Judy Savige
00091455 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091456 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091457 - PubMed: Cook 2008 Father is a carrier-asymptomatic) F - United States African American - 0 - - ASAR 15y renal failure; hearing loss; renal failure; glomerulus abnormal; COL4A3 COL4A3 1 2 Judy Savige
00091458 - PubMed: Tazon Vega 2003 consanguineous F - Spain - - 0 - - ASAR 16y renal failure; hearing loss; no ocular phenotype; renal failure COL4A3 COL4A3 1 1 Judy Savige
00091460 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - COL4A3 COL4A3 1 1 Judy Savige
00091511 - PubMed: Storey 2013 - M - - English - 0 - - ASAR 37y renal failure; no hearing loss; no ocular phenotype; renal failure; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091512 - PubMed: Storey 2013 - F - - English - 0 - - ASAR no hearing loss; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091513 - PubMed: Storey 2013 - F - - - - 0 - - ASAR no hearing loss; no ocular phenotype; glomerulus normal; COL4A3 COL4A3 2 1 Helen Storey
00091514 - PubMed: Storey 2013 - M - - - - 0 - - ASAR no hearing loss; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091515 - PubMed: Storey 2013 Dec’d M - - - - 0 - - ASAR 26y renal failure; hearing loss; no ocular phenotype; renal failure; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091516 - PubMed: Storey 2013 - M - - - - 0 - - ASAR 10y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091517 - PubMed: Storey 2013 - M - - English - 0 - - ASAR no hearing loss; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091518 - PubMed: Storey 2013 - M - - - - 0 - - ASAR hearing loss; no ocular phenotype; glomerulus abnormal; COL4A3 COL4A3 2 1 Helen Storey
00091519 - PubMed: Storey 2013 - F - - - - 0 - - ASAR 17y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091520 - PubMed: Storey 2013 - F - - - - 0 - - ASAR no hearing loss; no ocular phenotype; glomerulus abnormal; COL4A3 COL4A3 2 1 Helen Storey
00091521 - PubMed: Storey 2013 - F - - - - 0 - - ASAR - COL4A3 COL4A3 2 1 Helen Storey
00091522 - PubMed: Storey 2013 - F - United Kingdom (Great Britain) Mixed British - 0 - - ASAR 23y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091523 - PubMed: Storey 2013 - F - - English - 0 - - ASAR no hearing loss; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091524 - PubMed: Storey 2013 - M - India Punjabi - 0 - - ASAR no hearing loss; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091525 - PubMed: Storey 2013 - M - - - - 0 - - ASAR 17y renal failure; hearing loss; renal failure; glomerulus abnormal; COL4A3 COL4A3 2 1 Helen Storey
00091526 - PubMed: Storey 2013 - M - Australia Tasmanian, British origin - 0 - - ASAR 23y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091527 - PubMed: Storey 2013 - F - Australia British - 0 - - ASAR 15y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091528 - PubMed: Storey 2013 - F - Australia British - 0 - - ASAR hearing loss; no ocular phenotype; glomerulus abnormal; COL4A3 COL4A3 2 1 Helen Storey
00091529 - PubMed: Storey 2013 - F - Australia British - 0 - - ASAR 25y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal COL4A3 COL4A3 2 1 Helen Storey
00091664 - - - F - Hungary - - 0 - - ASAR - COL4A3 COL4A3 2 1 Gabor Kovacs
00091830 - PubMed: Storey 2013 parents are cousin F yes - - - 0 - - ASAR 12y renal failure; hearing loss; renal failure, lomerulus abnormal COL4A4 COL4A4 2 1 Helen Storey
00091831 - PubMed: Storey 2013 - F - - - - 0 - - ASAR 17y renal failure; hearing loss; renal failure, lomerulus abnormal COL4A4 COL4A4 2 1 Helen Storey
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