KEGG   DISEASE: Aceruloplasminemia
Entry
H02206                      Disease                                

Name
Aceruloplasminemia;
Ceruloplasmin deficiency
  Supergrp
Neurodegeneration with brain iron accumulation [DS:H00833]
Description
Aceruloplasminemia is an autosomal recessive disorder associated with severe iron deposition in visceral organ and brain tissues. The clinical symptoms are progressive dementia, extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. The symptoms appear when patients are between 30 and 50 years old. Patients have serum ceruloplasmin deficiencies and increased serum ferritin concentrations. The genetic defects in the ceruloplasmin gene has been identified in the patients.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H02206  Aceruloplasminemia
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Nutritional or metabolic anaemias
    3A00  Iron deficiency anaemia
     H02206  Aceruloplasminemia
Pathway
hsa04216 Ferroptosis   
hsa00860 Porphyrin and chlorophyll metabolism   
Gene
CP [HSA:1356] [KO:K13624]
Other DBs
ICD-11: 3A00.Y
ICD-10: G23.0
MeSH: C536004
OMIM: 604290
Reference
PMID:7708681
  Authors
Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD
  Title
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.
  Journal
Proc Natl Acad Sci U S A 92:2539-43 (1995)
DOI:10.1073/pnas.92.7.2539
Reference
PMID:7755360
  Authors
Morita H, Ikeda S, Yamamoto K, Morita S, Yoshida K, Nomoto S, Kato M, Yanagisawa N
  Title
Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.
  Journal
Ann Neurol 37:646-56 (1995)
DOI:10.1002/ana.410370515
LinkDB

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