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congenital disorder of glycosylation Ip
Summary
- Synonym
-
- congenital disorder of glycosylation 1p
- Definition
- A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080567
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 394898 | alg11 | ALG11, alpha-1,2-mannosyltransferase | Xenopus tropicalis (tropical clawed frog) | |
| 733388 | alg11.L | ALG11, alpha-1,2-mannosyltransferase L homeolog | Xenopus laevis (African clawed frog) | |
| 108709929 | alg11.S | ALG11, alpha-1,2-mannosyltransferase S homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q2TAA5 | GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002509 | Limb hypertonia |
| HP:0002572 | Episodic vomiting |
| HP:0002650 | Scoliosis |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
| HP:0003186 | Inverted nipples |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0005968 | Temperature instability |
| HP:0008000 | Decreased corneal reflex |
