KEGG   DISEASE: Congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities
Entry
H02835                      Disease                                
Name
Congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities
Description
Congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities (MFANDO) is a rare syndromic congenital myelofibrosis caused by mutations in RBSN. RBSN encodes rabenosyn, a conserved endosomal protein necessary for regulating internalized cargo.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Myelodysplastic syndromes
    2A3Y  Other specified myelodysplastic syndromes
     H02835  Congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities
Gene
RBSN [HSA:64145] [KO:K12481]
Other DBs
ICD-11: 2A3Y
OMIM: 620939
Reference
PMID:29784638
  Authors
Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernandez PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM
  Title
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.
  Journal
Blood 132:658-662 (2018)
DOI:10.1182/blood-2017-12-824433
Reference
PMID:30093384
  Authors
Kupfer GM
  Title
Endosome trafficking: blood and more.
  Journal
Blood 132:557-558 (2018)
DOI:10.1182/blood-2018-06-854968
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