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congenital disorder of glycosylation Im
Summary
- Synonym
-
- DOLK-congenital disorder of glycosylation
- congenital disorder of glycosylation 1m
- dolichol kinase deficiency
- Definition
- A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080565
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003642 | Type I transferrin isoform profile |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0001250 | Seizure |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0000505 | Visual impairment |
| HP:0006829 | Severe muscular hypotonia |
| HP:0001635 | Congestive heart failure |
| HP:0002445 | Tetraplegia |
| HP:0011123 | Inflammatory abnormality of the skin |
