Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 16002 | Igf2 | insulin-like growth factor 2 | |
| 16005 | Igfals | insulin-like growth factor binding protein, acid labile subunit | |
| 16009 | Igfbp3 | insulin-like growth factor binding protein 3 | |
| 29858 | Pmm1 | phosphomannomutase 1 | |
| 54128 | Pmm2 | phosphomannomutase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15305 | Phosphomannomutase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000091 | Abnormal renal tubule morphology |
| HP:0000093 | Proteinuria |
| HP:0000100 | Nephrotic syndrome |
| HP:0000154 | Wide mouth |
| HP:0000218 | High palate |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000276 | Long face |
| HP:0000278 | Retrognathia |
| HP:0000286 | Epicanthus |
