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 Ig
Summary
- Synonym
-
- ALG12-congenital disorder of glycosylation
- congenital disorder of glycosylation 1g
- Definition
- A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080559
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000377 | Abnormal pinna morphology |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000426 | Prominent nasal bridge |
| HP:0000445 | Wide nose |
| HP:0000478 | Abnormality of the eye |
| HP:0000486 | Strabismus |
| HP:0000541 | Retinal detachment |
| HP:0000750 | Delayed speech and language development |
| HP:0000759 | Abnormal peripheral nervous system morphology |
| HP:0000969 | Edema |
