KEGG   DISEASE: Potter syndromeHelp
Entry
H01728                      Disease                                

Name
Potter syndrome;
Potter sequence
Description
Potter syndrome is a rare fatal disorder that occurs in sporadic and hereditary forms. It affects predominantly male babies and is accompanied by severe oligohydramnios, polycystic kidney, bilateral renal agenesis, and obstructive uropathy during middle gestational weeks. Renal failure is the main defect in Potter syndrome. Other characteristic features include premature birth, breech presentation, atypical facial appearance, and limb malformations. Severe respiratory insufficiency leads to a fatal outcome in most infants. Potter syndrome has been divided into 4 distinct subgroups. Potter syndrome type I is referred to as autosomal recessive polycystic kidney disease (ARPKD), type II as renal dysplasia, type III as autosomal dominant polycystic kidney disease (ADPKD), and type IV occurs when a longstanding obstruction in either the kidney or ureter leads to cystic kidneys or hydronephrosis. Particularly types II-IV can be part of many syndromes.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the urinary system
   H01728  Potter syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the urinary system
    LB30  Structural developmental anomalies of kidneys
     H01728  Potter syndrome
BRITE hierarchy
Gene
(ARPKD) PKHD1 [HSA:5314] [KO:K19865]
(ADPKD) PKD1 [HSA:5310] [KO:K04985]
(ADPKD) PKD2 [HSA:5311] [KO:K04986]
(ADPKD) GANAB [HSA:23193] [KO:K05546]
(RA) ITGA8 [HSA:8516] [KO:K06584]
(RA) FGF20 [HSA:26281] [KO:K04358]
Comment
See also H00542 Polycystic kidney disease.
Other DBs
ICD-11: LB30.00
ICD-10: Q60.6
MeSH: C536482
OMIM: 606702 173900 613095 600666 191830 615721
Reference
  Authors
OSATHANONDH V, POTTER EL
  Title
PATHOGENESIS OF POLYCYSTIC KIDNEYS. SURVEY OF RESULTS OF MICRODISSECTION.
  Journal
Arch Pathol 77:510-2 (1964)
Reference
  Authors
Sarkar S, DasGupta S, Barua M, Ghosh R, Mondal K, Chatterjee U, Datta C
  Title
Potter's sequence: a story of the rare, rarer and the rarest.
  Journal
Indian J Pathol Microbiol 58:102-4 (2015)
DOI:10.4103/0377-4929.151202
Reference
  Authors
Bergmann C
  Title
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.
  Journal
Pediatr Nephrol 30:15-30 (2015)
DOI:10.1007/s00467-013-2706-2
Reference
  Authors
Shastry SM, Kolte SS, Sanagapati PR
  Title
Potter's Sequence.
  Journal
J Clin Neonatol 1:157-9 (2012)
DOI:10.4103/2249-4847.101705
Reference
  Authors
Harris PC, Torres VE
  Title
Polycystic kidney disease.
  Journal
Annu Rev Med 60:321-37 (2009)
DOI:10.1146/annurev.med.60.101707.125712
Reference
  Authors
Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Banales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrezet MP, Ferec C, Le Meur Y, Torres VE, Harris PC
  Title
Mutations in GANAB, Encoding the Glucosidase IIalpha Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
  Journal
Am J Hum Genet 98:1193-207 (2016)
DOI:10.1016/j.ajhg.2016.05.004
Reference
  Authors
Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C
  Title
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
  Journal
Am J Hum Genet 94:288-94 (2014)
DOI:10.1016/j.ajhg.2013.12.017
Reference
  Authors
Barak H, Huh SH, Chen S, Jeanpierre C, Martinovic J, Parisot M, Bole-Feysot C, Nitschke P, Salomon R, Antignac C, Ornitz DM, Kopan R
  Title
FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
  Journal
Dev Cell 22:1191-207 (2012)
DOI:10.1016/j.devcel.2012.04.018
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