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congenital disorder of glycosylation Ia
Summary
- Synonym
-
- PMM2-congenital disorder of glycosylation
- congenital disorder of glycosylation 1a
- Definition
- A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080552
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15305 | Phosphomannomutase 2 | |
| O60502 | Protein O-GlcNAcase | |
| P34949 | Mannose-6-phosphate isomerase | |
| Q9Y672 | Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration |
| HP:0003073 | Hypoalbuminemia |
| HP:0003186 | Inverted nipples |
| HP:0005562 | Multiple renal cysts |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution |
| HP:0008734 | Decreased testicular size |
| HP:0008936 | Axial hypotonia |
| HP:0009125 | Lipodystrophy |
| HP:0009830 | Peripheral neuropathy |
