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congenital disorder of glycosylation type IIk
Summary
- Synonym
-
- CDG IIk
- CDG syndrome type IIk
- CDG2K
- CDGIIdk
- Carbohydrate deficient glycoprotein syndrome type IIk
- Congenital disorder of glycosylation type 2k
- TMEM165-CDG
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070263
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9HC07 | Putative divalent cation/proton antiporter TMEM165 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002240 | Hepatomegaly |
| HP:0001252 | Hypotonia |
| HP:0011800 | Midface retrusion |
| HP:0000369 | Low-set ears |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001508 | Failure to thrive |
| HP:0000272 | Malar flattening |
| HP:0001873 | Thrombocytopenia |
| HP:0005484 | Secondary microcephaly |
| HP:0000939 | Osteoporosis |
