KEGG   DISEASE: Keppen-Lubinsky syndromeHelp
Entry
H02236                      Disease                                

Name
Keppen-Lubinsky syndrome
Description
Keppen-Lubinsky syndrome (KPLBS) is a rare condition characterized by severely reduced facial adipose tissue and thin facial skin combined with severe developmental delay and hypertonia. KPLBS is caused by mutations in KCNJ6, which encodes an inwardly rectifying potassium channel.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H02236  Keppen-Lubinsky syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H02236  Keppen-Lubinsky syndrome
BRITE hierarchy
Gene
KCNJ6 [HSA:3763] [KO:K05000]
Other DBs
ICD-11: LD27.60
ICD-10: E88.1
OMIM: 614098
Reference
  Authors
Basel-Vanagaite L, Shaffer L, Chitayat D
  Title
Keppen-Lubinsky syndrome: Expanding the phenotype.
  Journal
Am J Med Genet A 149A:1827-9 (2009)
DOI:10.1002/ajmg.a.32975
Reference
  Authors
Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, Celluzzi A, Bencivenga P, Fang M, Tian M, Xu X, Cappa M, Dallapiccola B
  Title
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
  Journal
Am J Hum Genet 96:295-300 (2015)
DOI:10.1016/j.ajhg.2014.12.011

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