KEGG   DISEASE: Endocrine-cerebro-osteodysplasia syndrome
Entry
H00972                      Disease                                
Name
Endocrine-cerebro-osteodysplasia syndrome
Description
Endocrine-cerebro-osteodysplasia syndrome is a neonatal lethal recessive disorder found in an Old Order Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia. A missense mutation in ICK encoding intestinal cell kinase has been reported in the disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00972  Endocrine-cerebro-osteodysplasia syndrome
Gene
ICK [HSA:22858] [KO:K08828]
Other DBs
ICD-11: LD2F.1Y
OMIM: 612651
Reference
PMID:19185282
  Authors
Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA
  Title
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
  Journal
Am J Hum Genet 84:134-47 (2009)
DOI:10.1016/j.ajhg.2008.12.017
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