KEGG DISEASE: Aceruloplasminemia

KEGG

DISEASE: Aceruloplasminemia

Entry

H02206                      Disease

Name

Aceruloplasminemia;
Ceruloplasmin deficiency

Supergrp

Neurodegeneration with brain iron accumulation [DS:H00833]

Description

Aceruloplasminemia (ACP) 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 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-based classification of diseases [BR:br08402]
Cellular process
  nt06525  Ferroptosis
   H02206  Aceruloplasminemia

Pathway

Ferroptosis

Porphyrin metabolism

Network

nt06525 Ferroptosis

Gene

CP [HSA:1356] [KO:K13624]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

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 (CP)

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

» Japanese version

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