KEGG DISEASE: Neurodegeneration and seizures due to copper transport defect

KEGG

DISEASE: Neurodegeneration and seizures due to copper transport defect

Entry

H02736                      Disease

Name

Neurodegeneration and seizures due to copper transport defect

Description

Neurodegeneration and seizures due to copper transport defect (NSCT) is an autosomal recessive infantile-onset syndrome. The condition is characterized by hypotonia, global developmental delay, seizures and rapid brain atrophy. It has been reported that mutations in SLC31A1 cause this syndrome. SLC31A1 encodes a high-affinity copper uptake protein CTR1 that is essential for mammalian development and copper homeostasis.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H02736  Neurodegeneration and seizures due to copper transport defect

Gene

SLC31A1 [HSA:1317] [KO:K14686]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Batzios S, Tal G, DiStasio AT, Peng Y, Charalambous C, Nicolaides P, Kamsteeg EJ, Korman SH, Mandel H, Steinbach PJ, Yi L, Fair SR, Hester ME, Drousiotou A, Kaler SG

Title

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.

Journal

Hum Mol Genet 31:4121-4130 (2022)
DOI:10.1093/hmg/ddac156

Reference

Authors

Dame C, Horn D, Schomburg L, Grunhagen J, Chillon TS, Tietze A, Vogt A, Buhrer C

Title

Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1.

Journal

Clin Genet 103:585-589 (2023)
DOI:10.1111/cge.14289

LinkDB

» Japanese version

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