KEGG   DISEASE: Chronic benign proteinuria
Entry
H02972                      Disease                                
Name
Chronic benign proteinuria
Description
Chronic benign proteinuria (PROCHOB) is an autosomal recessive condition caused by C-terminal CUBN variants, leading to isolated proteinuria without kidney dysfunction and hypoalbuminemia. CUBN encodes for cubilin, an intestinal and proximal tubular uptake receptor.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 21 Symptoms, signs or clinical findings, not elsewhere classified
  Symptoms, signs or clinical findings of the genitourinary system
   Clinical findings on examination of urine, without diagnosis
    MF96  Proteinuria
     H02972  Chronic benign proteinuria
Gene
CUBN [HSA:8029] [KO:K14616]
Other DBs
ICD-11: MF96.Y
OMIM: 618884
Reference
PMID:31613795
  Authors
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaude L, Tete MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schafer T, Pape L, Godel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Moriniere V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschke P, Ahluwalia TS, Kottgen A, Andersen CBF, Bergmann C, Antignac C, Simons M
  Title
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
  Journal
J Clin Invest 130:335-344 (2020)
DOI:10.1172/JCI129937
Reference
PMID:40163114
  Authors
Sakakibara N, Nozu K
  Title
Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.
  Journal
Pediatr Nephrol 40:3367-3377 (2025)
DOI:10.1007/s00467-025-06745-x
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