Disease #00251 (XRN-1 (nephrolithiasis, X-linked, with renal failure, type 1 (XRN-1)), OMIM:310468)

Official abbreviation XRN-1
Name nephrolithiasis, X-linked, with renal failure, type 1 (XRN-1)
OMIM ID 310468
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 1 gene CLCN5
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Disease features -
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Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00025734 - PubMed: Lloyd 1996 multi-generation family - no United States - - 0 - - XRN-1 - CLCN5 CLCN5 1 1 Rosa Vargas-Poussou
00025737 - PubMed: Lloyd 1996 3-generation family, 3 affecteds - no United States - - 0 - - XRN-1 - CLCN5 CLCN5 1 3 Johan den Dunnen
00025747 - PubMed: Lloyd 1997 family, 1 affected M - United States British, white - 0 - - XRN-1 multiple proximal renal tubular defects, nephrocalcinosis, nephrolithiasis, renal failure CLCN5 CLCN5 1 1 Johan den Dunnen
00025748 - PubMed: Lloyd 1997 family, 2 affecteds M - United States African American - 0 - - XRN-1 multiple proximal renal tubular defects, nephrocalcinosis, nephrolithiasis, renal failure CLCN5 CLCN5 1 2 Johan den Dunnen
00025749 - PubMed: Lloyd 1997 family, 1 affected M - United States white - 0 - - XRN-1 multiple proximal renal tubular defects, nephrocalcinosis, nephrolithiasis, renal failure CLCN5 CLCN5 1 1 Johan den Dunnen
00025750 - PubMed: Lloyd 1997 3-generation family, 1 affected M - India - - 0 - - XRN-1 multiple proximal renal tubular defects, nephrocalcinosis, nephrolithiasis, renal failure CLCN5 CLCN5 1 1 Johan den Dunnen
00025751 - PubMed: Lloyd 1997 family, 2 affecteds M - Italy - - 0 - - XRN-1 multiple proximal renal tubular defects, nephrocalcinosis, nephrolithiasis, renal failure CLCN5 CLCN5 1 2 Rosa Vargas-Poussou
00025753 - PubMed: Schurman 1998 6-generation family, 6 affected males M no United States - - 0 - - XRN-1 see paper; referred for microhematuria and proteinuria noted on screening urinalysis CLCN5 CLCN5 1 6 Johan den Dunnen
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