KEGG   DISEASE: Congenital juvenile recurrent respiratory papillomatosis
Entry
H02756                      Disease                                
Name
Congenital juvenile recurrent respiratory papillomatosis
Description
Juvenile recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. JRRP is associated with infection of the upper airway by human papillomaviruses. The infection is thought to occur by vertical transmission at birth. It has been reported that an autosomal recessive, syndromic form of JRRP can be associated with an NLRP1 gain-of-function mutation.
Category
Neoplasm
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign non-mesenchymal neoplasms
    Benign neoplasm of respiratory or intrathoracic organs
     2F00  Benign neoplasm of middle ear or respiratory system
      H02756  Congenital juvenile recurrent respiratory papillomatosis
Gene
NLRP1 [HSA:22861] [KO:K12798]
Other DBs
ICD-11: 2F00.1
OMIM: 618803
Reference
PMID:31484767
  Authors
Drutman SB, Haerynck F, Zhong FL, Hum D, Hernandez NJ, Belkaya S, Rapaport F, de Jong SJ, Creytens D, Tavernier SJ, Bonte K, De Schepper S, van der Werff Ten Bosch J, Lorenzo-Diaz L, Wullaert A, Bossuyt X, Orth G, Bonagura VR, Beziat V, Abel L, Jouanguy E, Reversade B, Casanova JL
  Title
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.
  Journal
Proc Natl Acad Sci U S A 116:19055-19063 (2019)
DOI:10.1073/pnas.1906184116
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