Familial apoceruloplasmin deficiency

A hereditary autosomal recessive iron metabolism disorder, where iron gradually accumulates in the brain and other organs. It is characterized by neurologic symptoms that include DYSTONIA and TICS of the head, neck, face, and eyelids (BLEPHAROSPASM), TREMOR; CHOREA, and ATAXIA. DEMENTIA may occur in middle aged patients. Iron damage to pancreatic cells may cause DIABETES MELLITUS and iron accumulation in the tissues and organs results in a deficiency of iron in the blood, leading to ANEMIA; anemia and diabetes usually occur in young adulthood. Excess iron may also affect the eye, causing RETINAL DEGENERATION. Mutations in the CP gene have been identified. OMIM: 604290

Also Known As:

Aceruloplasminemia; Ceruloplasmin deficiency; Hereditary hypoceruloplasminemia; Hypoceruloplasminemia

Enzymes and Coenzymes: 1
- Enzymes: 155591
  - Oxidoreductases: 13899
    - Ceruloplasmin: 2272
      - Familial apoceruloplasmin deficiency: 221
Amino Acids, Peptides, and Proteins: 1
- Proteins: 496323
  - Carrier Proteins: 13306
    - Ceruloplasmin: 2272
      - Familial apoceruloplasmin deficiency: 221
  - Blood Proteins: 12679
    - Acute-Phase Proteins: 5224
      - Ceruloplasmin: 2272
        Familial apoceruloplasmin deficiency: 221
    - Serum Globulins: 555
      - Alpha-Globulins: 99
        Ceruloplasmin: 2272
        Familial apoceruloplasmin deficiency: 221
  - Globulins: 3119
    - Serum Globulins: 555
      - Alpha-Globulins: 99
        Ceruloplasmin: 2272
        Familial apoceruloplasmin deficiency: 221
  - Metalloproteins: 169
    - Ceruloplasmin: 2272
      - Familial apoceruloplasmin deficiency: 221
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Iron Metabolism Disorders: 91
    - Familial apoceruloplasmin deficiency: 221
Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Familial apoceruloplasmin deficiency: 221

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