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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
2 signs/symptoms
FTH1-related iron overload
Hereditary hyperferritinemia with congenital cataracts

FTH1 FTL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FTH1
(0.83)
FTL



Citations in the biomedical literature:


FTH1-related iron overload
FTH1
Hereditary hyperferritinemia with congenital cataracts
FTL



FTH1-related iron overload
Hereditary hyperferritinemia with congenital cataracts

Synonym(s):
- FTH1-associated iron overload

Synonym(s):
- Bonneau-Beaumont syndrome
- HHCS
- Hereditary hyperferritinemia-cataract syndrome

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538137

Hereditary hyperferritinemia with congenital cataracts

Very frequent
- Cataract / lens opacification
- Metabolic anomalies



FTH1-related iron overload

(no data available)