KEGG   DISEASE: Santavuori-Haltia disease
Entry
H02277                      Disease                                
Name
Santavuori-Haltia disease;
Infantile neuronal ceroid lipofuscinosis
  Supergrp
Neuronal ceroid lipofuscinosis [DS:H00149]
Progressive myoclonic epilepsy [DS:H00810]
Lysosomal storage disease [DS:H01425]
Description
Santavuori-Haltia disease, also known as the infantile neuronal ceroid lipofuscinosis (INCL), is a rare but one of the most lethal inherited neurodegenerative lysosome storage disorders of childhood. Patients are normal at birth but by 2 years of age they manifest complete retinal blindness and by age four they would be brain-dead. It is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene.
Category
Inherited metabolic disorder, Lysosomal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H02277  Santavuori-Haltia disease
Pathway
hsa01212  Fatty acid metabolism
hsa00062  Fatty acid elongation
hsa04142  Lysosome
Gene
PPT1 [HSA:5538] [KO:K01074]
Other DBs
ICD-11: 5C56.1
ICD-10: E75.4
MeSH: D009472
OMIM: 256730
Reference
PMID:4371326
  Authors
Santavuori P, Haltia M, Rapola J
  Title
Infantile type of so-called neuronal ceroid-lipofuscinosis.
  Journal
Dev Med Child Neurol 16:644-53 (1974)
DOI:10.1111/j.1469-8749.1974.tb04183.x
Reference
PMID:16571600
  Authors
Kim SJ, Zhang Z, Lee YC, Mukherjee AB
  Title
Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.
  Journal
Hum Mol Genet 15:1580-6 (2006)
DOI:10.1093/hmg/ddl078
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