Disease #05427 (ADPKD (kidney, polycystic, disease, autosomal dominant (ADPKD)))

Official abbreviation ADPKD
Name kidney, polycystic, disease, autosomal dominant (ADPKD)
OMIM ID -
Inheritance -
Individuals reported having this disease 26
Phenotype entries for this disease 26
Associated with 3 genes DNAJB11, PKD1, PKD2
Associated tissues -
Disease features -
Remarks -
Date created 2018-05-08 22:37:08 +02:00 (CEST)
Date last edited N/A


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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00000039 - PubMed: Bell 2011 - - - - - - - - - ADPKD - AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, SBDS, SLC26A2 AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, HUWE1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, PRKAR1A, SBDS, SLC26A2, TMPPE 14 1 Global Variome, with Curator vacancy
00164037 29706351-Fam1 PubMed: Cornec-Le Gall 2018 3-generation family, 3 affecteds (3F) F no - - - - - - ADPKD see paper; ... DNAJB11 DNAJB11 1 3 Johan den Dunnen
00164038 29706351-Fam2 PubMed: Cornec-Le Gall 2018 2-generation family, 4 affecteds (3F, M) F;M no - - - - - - ADPKD see paper; ... DNAJB11 DNAJB11 1 4 Johan den Dunnen
00164039 29706351-Fam3 PubMed: Cornec-Le Gall 2018 4-generation family, 6 affecteds (4F, 2M) F;M no - - - - - - ADPKD see paper; ... DNAJB11 DNAJB11 1 6 Johan den Dunnen
00164040 29706351-Fam4 PubMed: Cornec-Le Gall 2018 2-generation family, 2 affecteds (F, M) F;M no - - - - - - ADPKD see paper; ... DNAJB11 DNAJB11 1 2 Johan den Dunnen
00164041 29706351-Fam5 PubMed: Cornec-Le Gall 2018 4-generation family, 5 affecteds (4F, M) F;M no - - - - - - ADPKD see paper; ... DNAJB11 DNAJB11 1 5 Johan den Dunnen
00164042 29706351-Fam6 PubMed: Cornec-Le Gall 2018 3-generation family, 2 affecteds (F, M) F;M no - - - - - - ADPKD see paper; ... DNAJB11 DNAJB11 1 2 Johan den Dunnen
00164043 29706351-Fam7 PubMed: Cornec-Le Gall 2018 2-generation family, affected female F no - - - - - - ADPKD see paper; ... DNAJB11 DNAJB11 1 1 Johan den Dunnen
00218390 CRBA - - F no Italy white >54y - - - ADPKD - PKD1 PKD1 1 1 Vilma Mantovani
00218392 CRBA - - F ? Italy white >47y - - - ADPKD - PKD1 PKD1 1 1 Vilma Mantovani
00218398 CRBA - - F no Italy white >43y - - - ADPKD - PKD1 PKD1 1 1 Vilma Mantovani
00218400 CRBA - - M no Italy white >32y - - - ADPKD - PKD1 PKD1 1 1 Vilma Mantovani
00218402 CRBA - - M no Albania white >42y - - - ADPKD - PKD1 PKD1 1 1 Vilma Mantovani
00218403 CRBA - - F no Albania white >35y - - - ADPKD - PKD1 PKD1 1 1 Vilma Mantovani
00218404 CRBA - - F no Italy white >25y - - - ADPKD - PKD1 PKD1 1 1 Vilma Mantovani
00218405 CRBA - - F no Italy white >47y - - - ADPKD - PKD1 PKD1 1 1 Vilma Mantovani
00218406 CRBA - - F no Italy white >33y - - - ADPKD - PKD2 PKD2 1 1 Vilma Mantovani
00218407 CRBA - - F no Italy white >51y - - - ADPKD - PKD2 PKD2 1 1 Vilma Mantovani
00265200 - - - F no Greece - 29y - yes - ADPKD - PKD1, PKD2 PKD1 1 1 BIOIATRIKI
00265715 - PubMed: Al-Muhanna 2019 patient with atypical ADPKD features and progressive kidney disease; no TSC features in brain, heart, lungs, eyes, kidneys; no liver or lung disease (no cysts); family history unknown as parental medical records unavailable M ? Saudi Arabia - - - - - ADPKD small kidney size; kidney volume 300; eGFR decline; chronic kidney disease stage 3 (HP:0012625); no hypertension (HPO_0000822) PKD1, PKD2, TSC2 TSC2 1 1 Rosemary Ekong
00383175 - - - - - - - - - - - ADPKD - PKD1 PKD1 1 1 Weiting Ting
00415866 D207 PubMed: Mallawaarachchi, 2021 patient with atypical ADPKD; no family history of PKD; multiple renal cysts M - - - - - - - ADPKD Multiple renal cysts (HP:0005562) TSC2 TSC2 1 1 Rosemary Ekong
00415867 D933 PubMed: Mallawaarachchi, 2021 patient with atypical ADPKD; no family history of PKD; bilateral enlarged kidneys; multiple renal cysts in both kidneys; liver cysts and and chronic kidney disease stage 1 M - - - - - - - ADPKD Polycystic kidney dysplasia (HP:0000113); Multiple renal cysts (HP:0005562); Hepatic cysts HP:0001407 TSC2 TSC2 1 1 Rosemary Ekong
00415868 D871 PubMed: Mallawaarachchi, 2021 patient with atypical ADPKD; without enlarged kidneys; no family history of PKD; multiple renal cysts; liver cysts and chronic kidney disease stage 3 M - - - - - - - ADPKD Multiple renal cysts (HP:0005562); Hepatic cysts HP:0001408 TSC2 TSC2 1 1 Rosemary Ekong
00446647 - - - F no China - - - - - ADPKD hypertension, early-onset renal dysfunction, hyperuricemia, electrolyte disturbance including hypomagnesemia and hypocalciuria HNF1B HNF1B 1 1 Yuhao Liu
00465589 - - - F no Spain - - - - - ADPKD - P2RX1, PKD1, PKD2, PKHD1 PKD1 1 1 Maria Elena García Paya
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