Endocrine-cerebro-osteodysplasia
| Disorder | |
|---|---|
| OMIM #: | #612651 (Click to access OMIM database) |
| Disorder: | Endocrine-cerebro-osteodysplasia |
| Also known as: | ECO syndrome |
| Clinical | |
| Phenotype: | cleft lip, cleft palate, fused eyelids, broad nasal bridge, midfacial hypoplasia, micrognathia, short limbs, polydactyly, brachydactyly, bowed long bones, hypoplastic epiglottis and larynx, adrenal insufficiency (hypoplastic adrenal glands), urogenital anomalies, disorder of sexual differentiation, hydrocephalus, agenesis of corpus callosum, other central nervous system abnormalities |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| 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: | 2024-04-11 |
| 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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