Hereditary hyperferritinemia with congenital cataracts
- Synonyms
- Bonneau-Beaumont syndrome; HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; Hereditary hyperferritinemia cataract syndrome; Hyperferritinemia cataract syndrome
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of metabolism/homeostasis
- Abnormal circulating iron concentration
Abnormal circulating iron concentration
- MedGen UID: 808235
- Concept ID: C0235760
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal transferrin saturation
Abnormal transferrin saturation
- MedGen UID: 868028
- Concept ID: C4022419
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased transferrin saturation
Decreased transferrin saturation
- MedGen UID: 760149
- Concept ID: C0919785
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating ferritin concentration
Increased circulating ferritin concentration
- MedGen UID: 69130
- Concept ID: C0241013
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal circulating iron concentration
- Abnormality of the eye
- Anterior subcapsular cataract
Anterior subcapsular cataract
- MedGen UID: 207277
- Concept ID: C1112768
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Nuclear cataract
Nuclear cataract
- MedGen UID: 140274
- Concept ID: C0392557
- Finding: Finding
Abnormality of the eye
- Pulverulent cataract
Pulverulent cataract
- MedGen UID: 318793
- Concept ID: C1833118
- Finding: Congenital Abnormality
Abnormality of the eye
- Anterior subcapsular cataract
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