Amish, Mennonite, and Hutterite
Genetic Disorder Database

Endocrine-cerebro-osteodysplasia (ECO)

Disorder
OMIM #: #612651  (Click to access OMIM database)
Disorder: Endocrine-cerebro-osteodysplasia (ECO) 
Also known as: ECO syndrome 
Clinical
Phenotype: hydrocephalus, cleft lip, cleft palate, fused eyelids, short limbs, polydactyly, brachydactyly, bowed long bones, adrenal insufficiency (hypoplastic adrenal glands), urogenital anomalies, ambiguous genitalia, agenesis of corpus callosum 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
ReferencesLahiry 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. (2009) A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. Am J Hum Genet 84(2):134-47.
PubMed ID: 19185282
1   Amish  
Gene: ICK
Base Change: G>A, at nucleotide 1305
Amino Acid Change: arg 272 --> gln
Last updated: 2018-04-19 

References
Lahiry P, Lee LJ, Frey BJ, Rupar CA, Siu VM, Blencowe BJ, Hegele RA. (2011) Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing. PLoS One 6(9):e25400.
PubMed ID: 21980446 
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. (2009) A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. Am J Hum Genet 84(2):134-47.
PubMed ID: 19185282 

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