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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:0012882 | Hyperplastic labia majora |
| HP:0100807 | Long fingers |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000107 | Renal cyst |
| HP:0000114 | Proximal tubulopathy |
| HP:0000252 | Microcephaly |
| HP:0000639 | Nystagmus |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0000821 | Hypothyroidism |
| HP:0000969 | Edema |
