KEGG   DISEASE: Alopecia neurologic defects and endocrinopathy syndrome (ANE syndrome)Help
Entry
H00621                      Disease                                

Name
Alopecia neurologic defects and endocrinopathy syndrome (ANE syndrome)
Description
Alopecia neurological defects and endocrinopathy syndrome (ANE syndrome) is an autosomal recessive disease that is clinically heterogeneous. ANE syndrome patients display multiple signs including a varied amount of hair loss, mental retardation, progressive loss of motor ability beginning in the second decade of life, hypogonadism, central adrenal insufficiency, short stature, microcephaly, and several other skeletal and skin abnormalities. The syndrome is caused by decreased expression of the nucleolar protein RBM28, known to be required for biogenesis of the 60S subunit of the ribosome.
Category
Endocrine disease; Ribosomopathy
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Ribosomopathies
   H00621  Alopecia neurologic defects and endocrinopathy syndrome (ANE syndrome)
BRITE hierarchy
Pathway
hsa03008 Ribosome biogenesis in Eukaryotes  
 
Gene
RBM28 [HSA:55131] [KO:K14573]
Other DBs
MeSH: 
OMIM: 
Reference
  Authors
Nousbeck J, Spiegel R, Ishida-Yamamoto A, Indelman M, Shani-Adir A, Adir N, Lipkin E, Bercovici S, Geiger D, van Steensel MA, Steijlen PM, Bergman R, Bindereif A, Choder M, Shalev S, Sprecher E
  Title
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
  Journal
Am J Hum Genet 82:1114-21 (2008)
DOI:10.1016/j.ajhg.2008.03.014
Reference
  Authors
Spiegel R, Shalev SA, Adawi A, Sprecher E, Tenenbaum-Rakover Y
  Title
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.
  Journal
Eur J Endocrinol 162:1021-5 (2010)
DOI:10.1530/EJE-10-0077
Reference
  Authors
Freed EF, Bleichert F, Dutca LM, Baserga SJ
  Title
When ribosomes go bad: diseases of ribosome biogenesis.
  Journal
Mol Biosyst 6:481-93 (2010)
DOI:10.1039/b919670f

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