KEGG DISEASE: Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia

KEGG

DISEASE: Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia

Entry

H02809                      Disease

Name

Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia

Description

Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is a novel progressive neurodegenerative syndrome. It has been reported that mutations in IREB2 cause this syndrome. IREB2 encodes the iron regulatory protein that plays an essential role in the regulation of iron metabolism.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A01  Choreiform disorders
    H02809  Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia

Gene

IREB2 [HSA:3658] [KO:K22416]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Cooper MS, Stark Z, Lunke S, Zhao T, Amor DJ

Title

IREB2-associated neurodegeneration.

Journal

Brain 142:e40 (2019)
DOI:10.1093/brain/awz183

Reference

Authors

Costain G, Ghosh MC, Maio N, Carnevale A, Si YC, Rouault TA, Yoon G

Title

Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.

Journal

Brain 142:1195-1202 (2019)
DOI:10.1093/brain/awz072

Reference

Authors

Maio N, Saneto RP, Steet R, Sotero de Menezes MA, Skinner C, Rouault TA

Title

Disruption of cellular iron homeostasis by IREB2 missense variants causes severe neurodevelopmental delay, dystonia and seizures.

Journal

Brain Commun 4:fcac102 (2022)
DOI:10.1093/braincomms/fcac102

LinkDB

» Japanese version

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