Disease #02210 (ATS1 (Alport syndrome, X-linked recessive (ATS1)), OMIM:301050)

Official abbreviation ATS1
Name Alport syndrome, X-linked recessive (ATS1)
OMIM ID 301050
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 103
Phenotype entries for this disease 102
Associated with 1 gene COL4A5
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

103 entries on 2 pages. Showing entries 1 - 100.
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00080911 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - - - - ATS1 Alport syndrome (OMIM:301050) COL4A5 COL4A5 1 1 Daniel Trujillano
00093395 - PubMed: Ma 2011 - M - China - - - - - ATS1 micro and macro haematuria, proteinuria; 21y renal failure; hearing loss; renal failure COL4A5 COL4A5 1 1 Judy Savige
00093396 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 34y microscopic haematuria, proteinuria.; hearing loss; glomerulus abnormal COL4A5 COL4A5 1 1 Judy Savige
00093397 - PubMed: Ma 2011 - M - China - - - - - ATS1 17y renal failure; microscopic haematuria, nephrotic syndrome, FSGS; renal failure COL4A5 COL4A5 1 1 Judy Savige
00093398 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 15y microscopic haematuria, proteinuria, MPG COL4A5 COL4A5 2 1 Judy Savige
00093399 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 5y micro and macro haematuria, proteinuria, MCD; no hearing loss; no ocular phenotype COL4A5 COL4A5 1 1 Judy Savige
00093400 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study7y microscopic haematuria, proteinuria, MPG; no hearing loss; no ocular phenotype COL4A5 COL4A5 1 1 Judy Savige
00093401 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 9y micro and macro haematuria, proteinuria, MCD; hearing loss; no ocular phenotype; glomerulus abnormal COL4A5 COL4A5 1 1 Judy Savige
00093402 - PubMed: Ma 2011 - M - China - - - - - ATS1 14y renal failure; microscopic haematuria, proteinuria, MPG; hearing loss; renal failure COL4A5 COL4A5 1 1 Judy Savige
00093403 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 5y microscopic haematuria, proteinuria, MCD; no hearing loss; no ocular phenotype; glomerulus abnormal COL4A5 COL4A5 1 1 Judy Savige
00093404 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 28y microscopic haematuria, proteinuria, FSGS; hearing loss; glomerulus abnormal COL4A5 COL4A5 1 1 Judy Savige
00093405 - PubMed: Ma 2011 - M - China - - - - - ATS1 age at study 17y micro and macro haematuria, nephrotic syndrome, MPG; hearing loss COL4A5 COL4A5 1 1 Judy Savige
00093406 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 9y microscopic haematuria COL4A5 COL4A5 1 1 Judy Savige
00093407 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 17y microcopic haematuria, FSGS COL4A5 COL4A5 1 1 Judy Savige
00093408 - PubMed: Ma 2011 - M - China - - - - - ATS1 25y renal failure; microscopic haematuria, nephrotic syndrome, FSGS; hearing loss; no ocular phenotype; renal failure COL4A5 COL4A5 1 1 Judy Savige
00093409 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 21ymicroscopic haematuria, proteinuria, FSGS; no hearing loss; glomerulus abnormal COL4A5 COL4A5 1 1 Judy Savige
00093410 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 20y microscopic haematuria, nephrotic syndrome; no hearing loss; ocular changes COL4A5 COL4A5 1 1 Judy Savige
00093411 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 5y microscopic haematuria, proteinuria, MCD COL4A5 COL4A5 1 1 Judy Savige
00093412 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 20y microscopic haematuria, proteinuria; no hearing loss; no ocular phenotype COL4A5 COL4A5 1 1 Judy Savige
00093413 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 45y microscopic haematuria, proteinuria; no hearing loss COL4A5 COL4A5 1 1 Judy Savige
00093414 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 24y microscopic haematuria, nephrotic syndrome, FSGS; hearing loss; no ocular phenotype COL4A5 COL4A5 1 1 Judy Savige
00093415 - PubMed: Ma 2011 - M - China - - - - - ATS1 31y renal failure; microscopic haematuria, nephrotic syndrome; hearing loss; no ocular phenotype; renal failure COL4A5 COL4A5 1 1 Judy Savige
00093416 - PubMed: Ma 2011 - F - China - - - - - ATS1 Age at study 8y micro and macro haematuria, proteinuria COL4A5 COL4A5 1 1 Judy Savige
00093417 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 22y microscopic haematuria, nephrotic syndrome, FSGS; no hearing loss; no ocular phenotype; glomerulus abnormal COL4A5 COL4A5 1 1 Judy Savige
00093418 - PubMed: Ma 2011 - M - China - - - - - ATS1 30y renal failure; microscopic haematuria, proteinuria, FSGS; hearing loss; ocular changes; renal failure COL4A5 COL4A5 1 1 Judy Savige
00093419 - PubMed: Ma 2011 - M - China - - - - - ATS1 22y renal failure; microscopic haematuria, nephrotic syndrome, FSGS; no hearing loss; renal failure COL4A5 COL4A5 1 1 Judy Savige
00093420 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 37y microscopic haematuria, nephrotic syndrome, FSGS; hearing loss; ocular changes COL4A5 COL4A5 1 1 Judy Savige
00093421 - PubMed: Ma 2011 - M - China - - - - - ATS1 Age at study 7y microscopic haematuria, proteinuria COL4A5 COL4A5 1 1 Judy Savige
00093422 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 4 Judy Savige
00093423 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 3 Judy Savige
00093424 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 4 Judy Savige
00093425 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 4 Judy Savige
00093426 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 2 Judy Savige
00093427 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 4 Judy Savige
00093428 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 2 Judy Savige
00093429 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 17 Judy Savige
00093430 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 3 Judy Savige
00093431 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 4 Judy Savige
00093432 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 3 Judy Savige
00093433 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 19 Judy Savige
00093434 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 4 Judy Savige
00093435 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 4 Judy Savige
00093436 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 11 Judy Savige
00093437 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 1 Judy Savige
00093438 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 4 Judy Savige
00093439 - PubMed: Ma 2011 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 1 Judy Savige
00093454 - PubMed: Rotondi 2012 - M - - - - - - - ATS1 Alports, klinefelter syndromes and craniopharyngioma COL4A5 COL4A5 1 1 Judy Savige
00093455 - PubMed: Nozu 2008, PubMed: Nozu 20093 - F - Japan - - - - - ATS1 haematuria and proteinuria at 3y, GBM abnormalities at 7, heavy proteinuria and hypoalbuminemia, and normal renal function. ; no ocular phenotype; glomerulus normal COL4A5, COL4A6 COL4A5, COL4A6 2 1 Judy Savige
00093456 - PubMed: Zhang 2012 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 1 Judy Savige
00093457 - PubMed: Zhang 2012 - - - China - - - - - ATS1 - COL4A5 COL4A5 1 1 Judy Savige
00093458 - PubMed: Zhang 2012 - - - China - - - - - ATS1 - COL4A5, COL4A6 COL4A5, COL4A6 2 1 Judy Savige
00093965 - - - M - Portugal - - - - - ATS1 18y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093966 - - - M - Portugal - - - - - ATS1 28y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093967 - - - M - - - - - - - ATS1 21y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093968 - - - M - Portugal - - - - - ATS1 45y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093969 - - - M - Portugal - - - - - ATS1 28y renal failure; hearing loss; no ocular phenotype; renal failure COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093970 - - - M - - - - - - - ATS1 22y renal failure; hearing loss; renal failure COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093971 - - - F - Portugal - - - - - ATS1 hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093973 - PubMed: Wang 2012 - M - Portugal - - - - - ATS1 20y renal failure; hearing loss; renal failure COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093974 - - - F - Portugal - - - - - ATS1 History of microscopic hematuria, proteinuria and CKD stage 3; no hearing loss; no renal failure COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093975 - - - M - Portugal - - - - - ATS1 17y renal failure; hearing loss; renal failure COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093976 - - - M - Portugal - - - - - ATS1 53y renal failure; hearing loss; no ocular phenotype; renal failure COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093977 23958657-Fam3PatIII1 PubMed: Sa 2013 2-generation family, affected mother/son F - Portugal - - - - - ATS1 46y renal failure; hearing loss; no ocular phenotype; renal failure COL4A5, COL4A6 COL4A5, COL4A6 1 2 Maria João Nabais Sá
00093978 - - - F - Portugal - - - - - ATS1 Microscopic hematuria and proteinuria diagnosed at 28 years old; no hearing loss; no renal failure COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093979 23958657-Fam2PatIII1 PubMed: Sa 2013 3-generation family, affected mother/son M - Portugal - - - - - ATS1 30y renal failure; hearing loss; ocular changes; renal failure COL4A5 COL4A5 1 2 Maria João Nabais Sá
00093980 - Knebelmann (1996) Am J Hum Genet 59 (6): 1221‚Äì1232. - M - Portugal - - - - - ATS1 32y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093981 - - - M - Portugal - - - - - ATS1 64y renal failure; hearing loss; ocular changes; renal failure COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093982 - - - F - Portugal - - - - - ATS1 History of microscopic hematuria and proteinuria; no hearing loss; no ocular phenotype; no renal failure COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093983 - Plant (1999) Hum Mutat 13 (2): 124‚Äì132. - M - Portugal - - - - - ATS1 23y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093984 - Bekheirnia (2010) J Am Soc Nephrol 21 (5): 876‚Äì883. - M - Portugal - - - - - ATS1 17y renal failure; no hearing loss (subjective); no ocular phenotype; renal failure, lomerulus abnormal COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093985 - Martin (1998) J Am Soc Nephrol 9 (12): 2291‚Äì2301. - M - Portugal - - - - - ATS1 16y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal COL4A5 COL4A5 1 1 Maria João Nabais Sá
00093986 - Renieri (1996) Am J Hum Genet 58 (6): 1192‚Äì1204. - M - Portugal - - - - - ATS1 18y renal failure; hearing loss; ocular changes; renal failure COL4A5 COL4A5 1 1 Maria João Nabais Sá
00154012 - PubMed: Guo 2014, Journal: Guo 2014 Four affected men with this mutation had adolescent-onset Alport syndrome. Two developed ESRD at 30 and 38 years. Three heterozygous females had a milder phenotype. One additional girl aged 13 years with heterozygous c.368G>A was asymptomatic. M - China Chinese, Tujia - - - - ATS1 no hearing loss (-HP:0000365); no ocular changes; GBM pathology scattered electron dense deposits in GBM without diffuse thinning of the GBM; 30y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154018 - PubMed: Xiu 2014, Journal: Xiu 2014 Heterozygous, with onset at 20 years. Forty-two year old mother presented at age 13 years, developed ESRD at 36. Two other heterozygotes aged 6 and 22, had haematuria onset at 3 years. No apparent hearing loss or ocular abnormalities F - China Chinese - - - - ATS1 no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); no proteinuria (-HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154019 - PubMed: Chen 2016, Journal: Chen 2016 - M - China Chinese - - - - ATS1 no hearing loss (-HP:0000365); no ocular changes; 25y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154026 - PubMed: Wuttke 2015, Journal: Wuttke 2015 Parents healthy, one 18 year old male cousin on maternal side with proteinuria M - Germany white - - - - ATS1 no hearing loss (-HP:0000365); no ocular changes; GBM pathology lamellation; 17y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154031 - PubMed: Adam 2014, Journal: Adam 2014 His mother reached ESRD at at 32 years, and underwent successful renal transplant. Renal biopsy showed only mesangial proliferation on light microscopy. Genetic testing confirmed that both mother and son had the same mutation. M - United Kingdom (Great Britain) - - - - - ATS1 hearing loss (HP:0000365); no ocular changes; GBM splitting; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154036 - PubMed: Baek 2016, {DOI;Baek 2016:10.1080/15513815.2016.1202362} 3 patients (2 boys,1 girl) developed Alport syndrome based on EM, but originally diagnosed with TBMN. Only the girl had a heterozygous COL4A5 nonsense mutation. ? All Alport genes examined. No ocular changes. F - Korea, South (Republic) Korean - - - - ATS1 hearing loss (HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154040 - PubMed: Fu 2016, Journal: Fu 2016 - M - Japan - - - - - ATS1 GBM pathology lamellation, negative expression for collagen IV a5 chain; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154054 - PubMed: Gibson 2013, Journal: Gibson 2013 Proband's father and paternal grandmother had the COL4A5 mutation, with renal features and GBM changes. Proband and her sister both inheritated p.N188I (NPHS1) from asymptomatic mother F - United Kingdom (Great Britain) - - - - - ATS1 hematuria (HP:0000790); no proteinuria (-HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154073 - PubMed: Zholdybayeva 2014 Aged 16. Mother with ESRD, 3 maternal uncles died from CKD between 20 and 32 years. Fourteen family members with renal features M - Kazakhstan Kazakh - - - - ATS1 hearing loss (HP:0000365); ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154098 - PubMed: Demosthenous 2012, Journal: Demosthenous 2012 - M - Greece Greek - - - - ATS1 hearing loss (HP:0000365); 39y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154108 - PubMed: Demosthenous 2012, Journal: Demosthenous 2012 - M - Cyprus Greek - - - - ATS1 diabete; GBM pathology thin basement membrane nephropathy with Focal and segmental glomerulosclerosis; 30y-57yy-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154110 - PubMed: Fu 2016, Journal: Fu 2016 Proband's α5(IV) expression showed a mosaic pattern. He was first detected with haematuria and proteinuriaat the age of 3 years, kidney biopsy taken at 10 years demonstrated Alport syndrome with a GBM with basket weave pattern. At the age of 18, he had hematuria and proteinuria of 0.83 g/g Cr. There is no other affected member in the pedigree. M - Japan - - - - - ATS1 no hearing loss (-HP:0000365); no ocular changes; GBM pathology Basket-weave changes; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154112 - {PMIDBailara 2015::26168235}, Journal: Bailara 2015 - F - Kazakhstan Kazakhs - - - - ATS1 hearing loss (HP:0000365); ocular changes, retinal vessel angiopathy; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154133 - PubMed: Fu 2016, Journal: Fu 2016 proband was diagnosed with XL Alport syndrome with a somatic and gonadal mosaic variant in COL4A5. Proband's two daughters have the same heterozygous variant and developed haematuria and proteinuria whcih was diagnosed also as X-linked Alport syndrome. The daughters' mother was asymptomatic with no variants. M - Japan - - - - - ATS1 no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154137 - PubMed: Chiereghin 2017, Journal: Chiereghin 2017 Proband's mother’s side had renal problems and/or died from ESRD, although her mother does not show an overt renal phenotype, apart from haematuria. The proband’s daughter (aged 21) has hematuria, developed proteinuria at age 8, which is progressively worsening, and also had a hearing loss with onset in the first decade F - Italy Italian - - - - ATS1 no hearing loss (-HP:0000365); no ocular changes; GBM pathology thinning, thickening; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154148 - Beicht S, Gene 526 (2013) 474–477 - M - Germany German - - - - ATS1 hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154168 - PubMed: Abe 2016, Journal: Abe 2016 Proband's mother, with the same mutatio, has similar EM features, and also haematuria, proteinuria but no renal impairment, no hearing loss, and no ocular abnormalities. Her maternal aunt had an episode of nephritis, but renal biopsy findings were unclear. The HUMARA assay for her and her mother revealed that the X chromosome inactivation pattern was 77:23 and 31:69, respectively F - Japan Japanese - - - - ATS1 no hearing loss (-HP:0000365); no ocular changes; GBM pathology thinned, GBM with dense granules and splitting; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154169 - PubMed: Nozu 2014, Journal: Nozu 2014 Macrohematuria at 4 months, diagnosed Alport sydnrome at 14 months, renal transplant at 10 from his father. His mother had haematuria and mild proteinuria since early childhood. The 367 nt (part of intron 32 and part of exon 33) deletion resulted in a new exon of 141 nt, the new fusion exon was composed of an Alu-derived sequence of intron 33, 15-nt linker between the AluY and the deletion breakpoint, and the 3' end of exon 33. M - Japan - - - - - ATS1 no hearing loss (-HP:0000365); no ocular changes; GBM pathology lamellation; 10y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154172 - PubMed: Chiereghin 2017, Journal: Chiereghin 2017 proband’s mother presented with microhematuria, proteinuria, hearing loss and normal renal function. The proband’s grandmother only had microhematuria M - Italy Italian - - - - ATS1 hearing loss (HP:0000365); no ocular changes; GBM pathology thinning, thickening, splitting; 20y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154179 - PubMed: Demosthenous 2012, Journal: Demosthenous 2012 - M - Greece Greek - - - - ATS1 hearing loss (HP:0000365); hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154196 - PubMed: Crespo 2015, Journal: Crespo 2015 This case illustrates a rare histological manifestation of Alport syndrome, with a different light microscopy pattern from Alport syndrome, with a necrotising and crescentic glomerulonephritis. Thi shas been rarely described M - United States white - - - - ATS1 hearing loss (HP:0000365); GBM pathology lamellated and ‘basket-weave’ appearance, extensive effacement of podocyte processes; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154199 - PubMed: Adam 2014, Journal: Adam 2014 Affected half-brother and brother with the same mutation developed ESRD aged 46 and 57, as well as a sister and mother with renal impairment, but no further clinical or histological features M - United Kingdom (Great Britain) - - - - - ATS1 hearing loss (HP:0000365); ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154202 - Journal: de Godoy 2013 His mother had an episode of haematuria at the age of 12 years. His aunt and cousin also had haematuria. His paternal grandfather died at the age of 25 years of kidney disease and his maternal uncle died at 40 from an unnown cause. His maternal great grand father had also died of kidney disease at the age of 30. The patient’s brother had hematuria and had a normal ocular examination M - Canada - - - - - ATS1 no hearing loss (-HP:0000365); ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00154251 - PubMed: Fu 2016, Journal: Fu 2016 The proband was diagnosed with XL Alport syndrome with a somatic and gonadal mosaic variant in COL4A5. His daughter had macrohematuria and mild proteinuria (0.2 g/g Cr) when she was 6 years old. Her kidney biopsy demonstrated GBM basket-weave changes and mosaic α5(IV) expression. She has the same heterozygous missense variant at COL4A5 exon 49 (c.4787G4T, p.(Gly1596Val)) M - Japan - - - - - ATS1 hematuria (HP:0000790); no proteinuria (-HP:0000093) COL4A5 COL4A5 1 1 Judy Savige
00226254 - - - - - - - - - - - ATS1 - COL4A5 COL4A5 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00265633 03364 - - M no Croatia (Hrvatska) - 10y - {yes - ATS1 hematuria, proteinuria COL4A3, COL4A4, COL4A5 COL4A5 1 1 Tamara Nikuseva Martic
00375240 - - - F no Kosovo - - - - - ATS1 - - COL4A5 1 1 Jasmina Comic
00375241 - - - M no - - - - - - ATS1 - - COL4A5 1 1 Jasmina Comic
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