Disease #00252 (proteinuria, hypercalciuria, nephrocalcinosis, OMIM:308990)

Official abbreviation -
Name proteinuria, hypercalciuria, nephrocalcinosis
OMIM ID 308990
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 20
Phenotype entries for this disease 20
Associated with 1 gene CLCN5
Associated tissues -
Disease features -
Remarks -
Date created 2013-10-20 13:44:39 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00025743 - PubMed: Lloyd 1997 2-generation family, 2 affected males M - Japan - - - - - proteinuria, hypercalciuria, nephrocalcinosis see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis CLCN5 CLCN5 1 2 Johan den Dunnen
00025744 - PubMed: Lloyd 1997 2-generation family, affected male M - Japan - - - - - proteinuria, hypercalciuria, nephrocalcinosis see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis CLCN5 CLCN5 1 1 Johan den Dunnen
00025745 - PubMed: Lloyd 1997 2-generation family, 2 affected males M - Japan - - - - - proteinuria, hypercalciuria, nephrocalcinosis see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis CLCN5 CLCN5 1 2 Johan den Dunnen
00025746 - PubMed: Lloyd 1997 2-generation family, affected male M - Japan - - - - - proteinuria, hypercalciuria, nephrocalcinosis see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis CLCN5 CLCN5 1 1 Johan den Dunnen
00477239 A1 PubMed: Ludwig 2006 patient M - Turkey - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones, glomerular filtration rate 30–80 ml/min per 1.73 m2 CLCN5 CLCN5 1 1 Johan den Dunnen
00477240 B1 PubMed: Ludwig 2006 patient M - Germany - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones CLCN5 CLCN5 1 1 Johan den Dunnen
00477241 FamCPatI1/II1/II2 PubMed: Ludwig 2006 family, 3 affected M - Germany - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria (3/3), hypercalciuria (1/3), nephrocalcinosis and/or stones (1/3), glomerular filtration rate <30 ml/min per 1.73 m2 or transplantation (1/3) CLCN5 CLCN5 1 3 Johan den Dunnen
00477242 D1 PubMed: Ludwig 2006 patient M - Germany - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones CLCN5 CLCN5 1 1 Johan den Dunnen
00477243 E1 PubMed: Ludwig 2006 patient M - Germany - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria, nephrocalcinosis and/or stones CLCN5 CLCN5 1 1 Johan den Dunnen
00477244 FamGPatI1/I2 PubMed: Ludwig 2006 family, 2 affected M - Germany - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones CLCN5 CLCN5 1 2 Johan den Dunnen
00477245 FamHPatI4/I5/II2/III1 PubMed: Ludwig 2006 family, 4 affected M - Austria - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria (4/4), hypercalciuria (1/4), nephrocalcinosis and/or stones (4/4), glomerular filtration rate 30–80 ml/min per 1.73 m2 (1/4), glomerular filtration rate <30 ml/min per 1.73 m2 or transplantation (1/4) CLCN5 CLCN5 1 4 Johan den Dunnen
00477246 FamIPatI3/I5/II3/II5 PubMed: Ludwig 2006 family, 4 affected M - Finland - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria (4/4), hypercalciuria (4/4), nephrocalcinosis and/or stones (4/4), glomerular filtration rate 30–80 ml/min per 1.73 m2 (1/4) CLCN5 CLCN5 1 4 Johan den Dunnen
00477247 J1 PubMed: Ludwig 2006 patient M - Turkey - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria, hypercalciuria CLCN5 CLCN5 1 1 Johan den Dunnen
00477248 K1 PubMed: Ludwig 2006 patient M - Turkey - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria, nephrocalcinosis and/or stones CLCN5 CLCN5 1 1 Johan den Dunnen
00477249 FamLPatI1/I2/I3 PubMed: Ludwig 2006 family, 3 affected M - Germany - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria (3/3), hypercalciuria (1/3), nephrocalcinosis and/or stones (2/3) CLCN5 CLCN5 1 3 Johan den Dunnen
00477250 FamMPatI1/I2 PubMed: Ludwig 2006 family, 2 affected M - Germany - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones CLCN5 CLCN5 1 2 Johan den Dunnen
00477251 FamPatOI1/III1 PubMed: Ludwig 2006 family, 2 affected M - Germany - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria (2/2), nephrocalcinosis and/or stones (2/2), glomerular filtration rate <30 ml/min per 1.73 m2 or transplantation (1/2) CLCN5 CLCN5 1 2 Johan den Dunnen
00477252 P1 PubMed: Ludwig 2006 2-generation family, 1 affected, unaffected non-carrier parents M - Finland - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria, hypercalciuria CLCN5 CLCN5 1 1 Johan den Dunnen
00477253 Q1 PubMed: Ludwig 2006 patient M - Germany - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria, hypercalciuria CLCN5 CLCN5 1 1 Johan den Dunnen
00477254 S1 PubMed: Ludwig 2006 patient M - Germany - - - - - proteinuria, hypercalciuria, nephrocalcinosis LMW proteinuria, hypercalciuria CLCN5 CLCN5 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.