KEGG   DISEASE: Nail-patella syndrome
Entry
H00464                      Disease                                
Name
Nail-patella syndrome
Description
Nail-patella syndrome is a condition caused by mutation in LMX1B that regulates COL4A4 and COL4A3 expression. The most common associated abnormality is nail dysplasia.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00464  Nail-patella syndrome
Gene
LMX1B [HSA:4010] [KO:K09371]
Other DBs
ICD-11: LD24.J0
ICD-10: Q87.2
MeSH: D009261
OMIM: 161200
Reference
PMID:12215822
  Authors
Bongers EM, Gubler MC, Knoers NV
  Title
Nail-patella syndrome. Overview on clinical and molecular findings.
  Journal
Pediatr Nephrol 17:703-12 (2002)
DOI:10.1007/s00467-002-0911-5
Reference
PMID:11175791
  Authors
Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B
  Title
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.
  Journal
Nat Genet 27:205-8 (2001)
DOI:10.1038/84853

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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