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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
CHIME syndrome
Summary
- Synonym
-
- PIGL-CDG
- Zunich neuroectodermal syndrome
- Zunich-Kaye syndrome
- coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
- congenital disorder of glycosylation due to PIGL deficiency
- neuroectodermal dysplasia, CHIME type
- neuroectodermal syndrome, Zunich type
- Definition
- A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0112152
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002553 | Highly arched eyebrow |
| HP:0002557 | Hypoplastic nipples |
| HP:0002562 | Low-set nipples |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003593 | Infantile onset |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004415 | Pulmonary artery stenosis |
| HP:0004969 | Peripheral pulmonary artery stenosis |
| HP:0005280 | Depressed nasal bridge |
| HP:0005338 | Sparse lateral eyebrow |
