Disease #01169

Official abbreviation ASAD
Name syndrome, Alport, autosomal dominant (ASAD)
OMIM ID 104200
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 40
Phenotype entries for this disease 45
Associated with 1 gene COL4A3
Associated tissues -
Disease features -
Remarks -


Individuals

40 entries on 1 page. Showing entries 1 - 40.
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00091302 - PubMed: Longo 2002 - M - Italy - - 0 - - ASAD Micro-haematuria, proteinuria.; no hearing loss; no ocular phenotype; COL4A3 COL4A3 1 1 Judy Savige
00091348 - PubMed: Van der Loop (2000) Kidney Int 58, 1870 - - - United Kingdom (Great Britain) Irish - 0 - - ASAD Micro-haematuria, proteinuria; 35y renal failure; hearing loss; renal failure; COL4A3 COL4A3 1 1 Judy Savige
00091396 - PubMed: Pescucci 2004 - M - Italy - - 0 - - ASAD Micro-haematuria, proteinuria. CRF.; hearing loss; glomerulus abnormal; COL4A3 COL4A3 1 1 Judy Savige
00091410 - PubMed: Longo 2002 - F - Italy - - 0 - - ASAD Micro-haematuria, proteinuria, normal renal function; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091416 - PubMed: Pescucci 2004 - M - Italy - - 0 - - ASAD 45y renal failure; no hearing loss; no ocular phenotype; renal failure; glomerulus abnormal COL4A3 COL4A3 1 1 Judy Savige
00091917 - PubMed: Marcocci 2009 - F - - - - 0 - - ASAD Micro-haehoturia/Proteinuria. ; glomerulus abnormal COL4A4 COL4A4 1 1 Judy Savige
00091918 - PubMed: Marcocci 2009 - M - - - - 0 - - ASAD Micro-haehoturia/Proteinuria. ; glomerulus abnormal COL4A4 COL4A4 1 1 Judy Savige
00091920 - PubMed: Marcocci 2009 - F - - - - 0 - - ASAD micro-haematuria COL4A4 COL4A4 1 1 Judy Savige
00091921 - PubMed: Marcocci 2009 - F - - - - 0 - - ASAD Micro-haematuria ,proteinuria renal failure. ; renal failure COL4A4 COL4A4 1 1 Judy Savige
00091924 - PubMed: Longo 2002 - M - Italy - - 0 - - ASAD Micro-haematuria proteinuria, non-progressive CRF; glomerulus abnormal COL4A4 COL4A4 18 1 Judy Savige
00091928 - PubMed: Pescucci 2004 - M - - - - 0 - - ASAD Micro-haematuria, macro-haematuria, bilateral hypoacusis, normal renal function. ; hearing loss; glomerulus abnormal COL4A4 COL4A4 1 1 Judy Savige
00091932 - PubMed: Marcocci 2009 - M - - - - 0 - - ASAD Micro-haematuria, proteinuria. ; 60y renal failure; renal failure COL4A4 COL4A4 1 1 Judy Savige
00091933 - PubMed: Marcocci 2009 - M - - - - 0 - - ASAD Micro-haematuria, proteinuria.; glomerulus abnormal COL4A4 COL4A4 1 1 Judy Savige
00091938 - PubMed: Pescucci 2004 Family history of renal impairment. F - - - - 0 - - ASAD Micro-haematuria. ; no hearing loss; no ocular phenotype; glomerulus abnormal COL4A4 COL4A4 1 1 Judy Savige
00091939 - PubMed: Ciccarese 2001 - F - Italy Sardinian - 0 - - ASAD Micro-haematuria. (family has hyperchol-esterolemia); 29y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal COL4A4 COL4A4 2 1 Judy Savige
00091940 - PubMed: Marcocci 2009 - F - - - - 0 - - ASAD Micro/Macro-haematuria, proteinuria. ; glomerulus abnormal COL4A4 COL4A4 1 1 Judy Savige
00091942 - PubMed: Marcocci 2009 - M - - - - 0 - - ASAD Microhaematuria, proteinuria. ; 45y renal failure; ocular changes; renal failure, lomerulus abnormal COL4A4 COL4A4 1 1 Judy Savige
00091943 - PubMed: Marcocci 2009 - F - - - - 0 - - ASAD Microhaematuria, proteinuria. ; 60y renal failure; renal failure COL4A4 COL4A4 1 1 Judy Savige
00091968 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 1 Judy Savige
00091975 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 5 Judy Savige
00091983 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 1 Judy Savige
00091991 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 3 Judy Savige
00092003 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 6 Judy Savige
00092009 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 8 Judy Savige
00092012 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 8 Judy Savige
00092014 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 8 Judy Savige
00092016 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 8 Judy Savige
00092020 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 8 Judy Savige
00092027 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 8 Judy Savige
00092037 - PubMed: Marcocci 2009 - - - - - - 0 - - ASAD - COL4A4 COL4A4 1 8 Judy Savige
00153698 - PubMed: Rosado 2015, Journal: Rosado 2015 Hematuria at age of 2, proteinuria and CKD at 32, hearing loss at 46. Son had hematuria and proteinuria at 6, and hearing loss and anterior lenticonus at 9, CKD at 19 F - Spain Spanish - 0 - - ASAD hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A3 COL4A3 1 1 Judy Savige
00153790 - PubMed: Imafuku 2017, Journal: Imafuku 2017 Hematuria and proteinuria at 6 M - Japan - - 0 - - ASAD GBM pathology thinning, splitting, lamellation; 42y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A3 COL4A3 1 1 Judy Savige
00153826 - PubMed: Rosado 2015, Journal: Rosado 2015 - F - Spain Caucasian - 0 - - ASAD 41y-hearing loss (HP:0000365); ocular changes; 31y-renal failure (HP:0000083), 42y-retinopathy; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A3 COL4A3 1 1 Judy Savige
00153845 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - 0 - - ASAD hematuria (HP:0000790) COL4A4 COL4A3, COL4A4 1 1 Judy Savige
00153847 - PubMed: Rosado 2014 Haematuria at age 30, proteinuria at 40. Her father diagnosed with ESRF at 75, with high tone hearing loss at 79 M - Spain - - 0 - - ASAD no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A4 COL4A4 1 1 Judy Savige
00153866 - PubMed: Imafuku 2017, Journal: Imafuku 2017 Haematuria at 31, proteinuria at 31. Another affected female aged 30, haematuria at 12, proteinuria at 29, no ESRD M - Japan - - 0 - - ASAD GBM pathology thinning, lamellation; 58y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A4 COL4A4 1 1 Judy Savige
00153944 - PubMed: Deng 2016, Journal: Deng 2016 most consistent with AD inheritance. This family had a milder phenotype than in Alport syndrome. Ten patients (II:1, II:3, II:5, II:7, III:7, III:9, III:10, III:12, III:14 and III:15) with this mutation had adult onset Alport syndrome . Two (II:5 and II:7) of the 10 patients progressed to ESRD at 60 and 56 yr of age. There were two currently asymptomatic male members (IV:4 and IV:5) with the heterozygous p.Gly1072Glufs*69 mutation, aged 11 and eight years old. The main clinical manifestation was haematuria, present in all patients. Proteinuria was present in four of 10 patients, and chronic kidney disease in two M - China Chinese - 0 - - ASAD no hearing loss (-HP:0000365); no ocular changes; GBM pathology Irregularly thickened and splitting; hematuria (HP:0000790); no proteinuria (-HP:0000093) COL4A4 COL4A4 1 1 Judy Savige
00153945 - PubMed: Deng 2016, Journal: Deng 2016 10 patients with this mutation had adult onset Alport syndrome. Two of the 10 progressed to ESRD at 60 and 56 yr of age. There were two currently asymptomatic male members (IV:4 and IV:5) with the heterozygous p.Gly1072Glufs*69 mutation aged 11 and 8. None of the 12 had a hearing loss or maculopathy. M - China Chinese - 0 - - ASAD no hearing loss (-HP:0000365); no ocular changes; GBM pathology Irregularly thickened and splitting; hematuria (HP:0000790); no proteinuria (-HP:0000093) COL4A4 COL4A4 1 1 Judy Savige
00153963 - PubMed: Guo 2017, Journal: Guo 201 Proband's 45-year-old uncle and 26-year-old sister have glomerular haematuriaand proteinuria, with renal impairment. They also had a mild sensorineural hearing loss. The father had undergone dialysis since the age of 60 and died of kidney failure at 62 M - China Chinese - 0 - - ASAD hearing loss (HP:0000365); GBM pathology Irregular thickening, thinning and splitting; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A4 COL4A4 2 1 Judy Savige
00153967 - PubMed: Rosado 2014 Hearing loss at age of 6, haematuria and proteinuria at 28, macular flecks at 48. Her mother and brother had CKD F - Spain - - 0 - - ASAD hearing loss (HP:0000365); ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A4 COL4A4 1 1 Judy Savige
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