| Metadata | |
|---|---|
| ID | DOID:0111256 |
| Name | hyperferritinemia-cataract syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/7493028, https://www.ncbi.nlm.nih.gov/pubmed/7669675 |
| Xrefs |
SNOMEDCT_US_2023_03_01:702398007 |
| Subsets |
DO_rare_slim |
| Synonyms |
Bonneau-Beaumont syndrome [EXACT] cataract-hyperferritinemia syndrome [EXACT] hereditary hyperferritinemia with congenital cataracts [EXACT] hereditary hyperferritinemia-cataract syndrome [EXACT] HHCS [EXACT] HRFTC [EXACT] hyperferritinemia with or without cataract [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |