Details of Disease

General Information of Disease (ID: DIS9Y3MA)

Disease Name Endocrine-cerebro-osteodysplasia syndrome
Synonyms ECO; endocrine-CEREBROOSTEODYSPLASIA; ECO syndrome
Definition Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS5PU87: Skeletal system disorder
DISOGTFT: Hereditary lethal multiple congenital anomalies/dysmorphic syndrome
DIS9Y3MA: Endocrine-cerebro-osteodysplasia syndrome
Disease Identifiers
MONDO ID
MONDO_0012980
MESH ID
C567210
UMLS CUI
C2675227
OMIM ID
612651
MedGen ID
390740
Orphanet ID
199332

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CILK1 OTWOYEYP Strong Autosomal recessive [1]
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References

1 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. 2009 Feb;84(2):134-47. doi: 10.1016/j.ajhg.2008.12.017. Epub 2009 Jan 29.