H00621 | |
H number | H00621 |
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 | Ribosomopathy |
Network | - |
Gene | RBM28 [HSA:55131] [KO:K14573] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | MeSH: C567425 OMIM: 612079 |
Reference | PMID:18439547 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 PMID:20231366 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 PMID:20174677 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 |