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Hemochromatosis type 4
1 OMIM reference -
1 associated gene
9 connected diseases
11 signs/symptoms
Disease Type of connection
Aceruloplasminemia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hemochromatosis type 2
Synonym(s):
- Autosomal dominant hereditary hemochromatosis
- Ferroportin disease
- Hemochromatosis due to defect in ferroportin
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: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537249
Gene symbol UniProt reference OMIM reference
SLC40A1 Q9NP59604653
Very frequent
- Articular / joint pain / arthralgia
- Autosomal dominant inheritance
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Hydrarthrosis / articular / joint effusion
- Hyperferritinemia / iron overload
- Joint / articular deformation
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Acute abdominal pain / colic
- Liver / hepatic steatosis

Occasional
- Cirrhosis
- Congenital hepatic fibrosis