KEGG   DISEASE: CHIME syndrome
Entry
H01487                      Disease                                
Name
CHIME syndrome;
Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome;
Zunich neuroectodermal syndrome
  Supergrp
Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
Description
CHIME syndrome (coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome), also known as Zunich neuroectodermal syndrome, is an autosomal recessive disorder characterized by colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation, and ear defects, including conductive hearing loss. Homozygous and compound heterozygous mutations in PIGL lead to this disorder.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C54  Inborn errors of glycosylation or other specified protein modification
     H01487  CHIME syndrome
Pathway-based classification of diseases [BR:br08402]
 Glycan/glycoprotein metabolism
  nt06018  GPI-anchor biosynthesis
   H01487  CHIME syndrome
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Network
nt06018 GPI-anchor biosynthesis
Gene
PIGL [HSA:9487] [KO:K03434]
Other DBs
ICD-11: 5C54
ICD-10: Q87.8
OMIM: 280000
Reference
PMID:22444671
  Authors
Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH
  Title
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
  Journal
Am J Hum Genet 90:685-8 (2012)
DOI:10.1016/j.ajhg.2012.02.010
Reference
PMID:8893234
  Authors
Tinschert S, Anton-Lamprecht I, Albrecht-Nebe H, Audring H
  Title
Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities.
  Journal
Pediatr Dermatol 13:363-71 (1996)
DOI:10.1111/j.1525-1470.1996.tb00702.x
LinkDB

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