Aliases: MGC71996, NBIA3, FTL1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Hereditary Hyperferritinemia with Congenital Cataracts | causative germline |
mechanism: FTL Iron-Responsive Element Disruption
|
| neuroferritinopathy |
untyped
Dominant negative / abnormal ferritin assembly
|
mechanism: Mutant ferritin light chain disrupts iron storage
|
| Neurodegeneration With Brain Iron Accumulation | no genetic record |
mechanism: Genetic pathway heterogeneity
subtype: Neuroferritinopathy
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| hereditary hyperferritinemia with congenital cataracts MONDO:0010952 | AD | Definitive 2026-02-18 |
|
| neuroferritinopathy MONDO:0011638 | AD | Definitive 2026-06-26 |
Neurodegeneration With Brain Iron Accumulation
no genetic record
neuroferritinopathy
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.