Aceruloplasminemia

Aceruloplasminemia
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Aceruloplasminemia Classification and external resources
ICD-10	E 83.1
ICD-9	275.0
OMIM	604290
DiseasesDB	30055

Aceruloplasminemia is an autosomal recessive^[1] disorder of iron metabolism characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.

Iron accumulates in the pancreas, liver and brain. Accumulation in the eye may lead to retinal degeneration. The disease is caused by mutations in the ceruloplasmin gene.^[2]

Aceruloplasminemia has an autosomal recessive pattern of inheritance.

References

^ Harris, Zl; Takahashi, Y; Miyajima, H; Serizawa, M; Macgillivray, Rt; Gitlin, Jd (Mar 1995). "Aceruloplasminemia: molecular characterization of this disorder of iron metabolism". Proceedings of the National Academy of Sciences of the United States of America 92 (7): 2539–43. ISSN 0027-8424. PMID 7708681.
^ Yoshida, K; Furihata, K; Takeda, S; Nakamura, A; Yamamoto, K; Morita, H; Hiyamuta, S; Ikeda, S; Shimizu, N; Yanagisawa, N (Mar 1995). "A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans". Nature genetics 9 (3): 267–72. doi:10.1038/ng0395-267. PMID 7539672.

v • d • e Inborn errors of metal metabolism (E83, 275)

Cu	Wilson's disease - Menkes disease

Fe	Primary iron overload disorder: Haemochromatosis (Juvenile) - Aceruloplasminemia - Atransferrinemia - Hemosiderosis

Zn	Acrodermatitis enteropathica

PO₄³⁻	Hyperphosphatemia - Hypophosphatemia - Hypophosphatasia

Mg²⁺	Hypermagnesemia - Hypomagnesemia

Ca²⁺	Hypercalcaemia - Hypocalcaemia - Pseudohypoparathyroidism - Pseudopseudohypoparathyroidism - Milk-alkali syndrome (Burnett's) - Calcinosis (Calciphylaxis, Calcinosis cutis) - Calcification (Metastatic calcification, Dystrophic calcification)

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