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Hereditary hyperferritinemia with congenital cataracts
1 OMIM reference -
1 associated gene
22 connected diseases
2 signs/symptoms
Disease Type of connection
Genetic hyperferritinemia without iron overload
Neuroferritinopathy
FTH1-related iron overload
Congenital high-molecular-weight kininogen deficiency
Heritable pulmonary arterial hypertension
CLOVE syndrome
Congenital glaucoma
Cowden syndrome
Hemimegalencephaly
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary nonpolyposis colon cancer
Huntington disease
Juvenile Huntington disease
Juvenile glaucoma
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Mosaic variegated aneuploidy syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Spondylometaphyseal dysplasia - cone-rod dystrophy
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Young adult-onset Parkinsonism
Synonym(s):
- Bonneau-Beaumont syndrome
- HHCS
- Hereditary hyperferritinemia-cataract syndrome
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
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 -
1 MeSH reference: C538137
Gene symbol UniProt reference OMIM reference
FTL P02792134790
Very frequent
- Cataract / lens opacification
- Metabolic anomalies