KEGG   DISEASE: Birk-Landau-Perez syndrome
Entry
H02550                      Disease                                
Name
Birk-Landau-Perez syndrome
Description
Birk-Landau-Perez syndrome (BILAPES) is a novel autosomal recessive cerebro-renal syndrome characterized by early onset intellectual disability and tubulointerstitial nephropathy. It has been suggested that SLC30A9 mutation affecting intracellular zinc homeostasis causes this disease. SLC30A9 encodes a putative zinc transporter.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H02550  Birk-Landau-Perez syndrome
Gene
SLC30A9 [HSA:10463] [KO:K14696]
Other DBs
ICD-11: 5C64.2Y
OMIM: 617595
Reference
PMID:28334855
  Authors
Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M, Halperin D, Barber-Zucker S, Shalev H, Schreiber R, Gradstein L, Gurevich E, Zarivach R, Rutter GA, Landau D, Birk OS
  Title
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
  Journal
Brain 140:928-939 (2017)
DOI:10.1093/brain/awx013
LinkDB

» Japanese version

DBGET integrated database retrieval system