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FTH1-related iron overload
1 OMIM reference -
1 associated gene
30 connected diseases
No signs/symptoms info
Disease Type of connection
Genetic hyperferritinemia without iron overload
Hereditary hyperferritinemia with congenital cataracts
Hereditary pheochromocytoma-paraganglioma
12p12.1 microdeletion syndrome
17p13.3 microduplication syndrome
Adrenocortical carcinoma
Amyotrophic lateral sclerosis
Autosomal recessive distal renal tubular acidosis with deafness
B-cell chronic lymphocytic leukemia
Developmental and speech delay due to SOX5 deficiency
Distal 17p13.3 microdeletion syndrome
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Glucocorticoid resistance
Isolated focal cortical dysplasia type IIb
Johanson-Blizzard syndrome
Li-Fraumeni syndrome
Miller-Dieker syndrome
Mosaic variegated aneuploidy syndrome
Papilloma of choroid plexus
Pediatric systemic lupus erythematosus
Precursor B-cell acute lymphoblastic leukemia
Tuberous sclerosis
Atypical chronic myeloid leukemia
Chronic neutrophilic leukemia
Hereditary neutrophilia
- FTH1-associated iron overload

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
FTH1 P02794134770
No signs/symptoms info available.