KEGG   DISEASE: Cathepsin D deficiency
Entry
H02279                      Disease                                

Name
Cathepsin D deficiency
  Subgroup
Congenital neuronal ceroid-lipofuscinosis
  Supergrp
Neuronal ceroid lipofuscinosis [DS:H00149]
Progressive myoclonic epilepsy [DS:H00810]
Lysosomal storage disease [DS:H01425]
Description
Cathepsin D deficiency underlies congenital neuronal ceroid-lipofuscinosis (NCL). It represents the earliest-onset and the most aggressive form of the NCL, leading to extreme brain atrophy and death soon after birth. Cathepsin D is a lysosomal protein encoded by the CTSD gene. Recently, novel mutations in CTSD with a juvenile onset of NCL has been reported.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H02279  Cathepsin D deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H02279  Cathepsin D deficiency
Related
pathway
hsa04142  Lysosome
hsa04210  Apoptosis
hsa04140  Autophagy
hsa04071  Sphingolipid signaling pathway
Gene
CTSD [HSA:1509] [KO:K01379]
Other DBs
ICD-11: 5C56.1
ICD-10: E75.4
MeSH: C566438
OMIM: 610127
Reference
  Authors
Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynela J
  Title
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.
  Journal
Brain 129:1438-45 (2006)
DOI:10.1093/brain/awl107
Reference
  Authors
Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H
  Title
Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.
  Journal
Neurology 83:1873-5 (2014)
DOI:10.1212/WNL.0000000000000981

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