Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hyperferritinemia-cataract syndrome
Summary
- Synonym
-
- Bonneau-Beaumont syndrome
- HHCS
- HRFTC
- cataract-hyperferritinemia syndrome
- hereditary hyperferritinemia with congenital cataracts
- hereditary hyperferritinemia-cataract syndrome
- hyperferritinemia with or without cataract
- Definition
- A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111256
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8N0V5 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase |
