Details of Disease | DrugMAP

General Information of Disease (ID: DIST8B4W)

Disease Name	CHIME syndrome
Synonyms	Zunich neuroectodermal syndrome; glycosylphosphatidylinositol biosynthesis defect 5; coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome; CHIME; coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome; coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; neuroectodermal syndrome, Zunich type; neuroectodermal dysplasia, CHIME type; CHIME syndrome; congenital disorder of glycosylation due to PIGL deficiency; Zunich-Kaye syndrome; PIGL-CDG
Definition	CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
Disease Hierarchy	DISMT2VZ: Cardiogenetic disease DISPGGVL: Syndromic dyslipidemia DISMFQKM: Developmental anomaly of metabolic origin DISQ1B1S: Disorder of visual system DISLRS4M: Ectodermal dysplasia DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISOXMGQ: Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation DIST8B4W: CHIME syndrome
Disease Identifiers	MONDO ID MONDO_0010221 MESH ID C536729 UMLS CUI C1848392 OMIM ID 280000 MedGen ID 341214 Orphanet ID 3474 SNOMED CT ID 720639008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PIGL	TTQA8DT	Limited	Genetic Variation	[1]
PIGL	TTQA8DT	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIGL	OTNAEAZ6	Definitive	Autosomal recessive	[2]
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References

1	Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?.Genet Mol Biol. 2018 Jan-Mar;41(1):85-91. doi: 10.1590/1678-4685-GMB-2017-0172. Epub 2018 Feb 19.
2	Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22.