KEGG   DISEASE: Acid phosphatase deficiency
Entry
H01113                      Disease                                
Name
Acid phosphatase deficiency
  Supergrp
Lysosomal storage disease [DS:H01425]
Description
Acid phosphatase deficiency is caused by defects in ACP2, that encodes the beta subunit of lysosomal acid phosphatase. The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy.
Category
Inherited metabolic disorder, Lysosomal 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
     H01113  Acid phosphatase deficiency
Pathway
hsa00740  Riboflavin metabolism
hsa04142  Lysosome
Gene
ACP2 [HSA:53] [KO:K14410]
Other DBs
ICD-11: 5C64.3
ICD-10: E83.3
MeSH: C562645
OMIM: 200950
Reference
PMID:5410815
  Authors
Nadler HL, Egan TJ
  Title
Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder.
  Journal
N Engl J Med 282:302-7 (1970)
DOI:10.1056/NEJM197002052820604
Reference
PMID:4139985
  Authors
Nadler HL
  Title
Treatment of acid phosphatase deficiency disorders.
  Journal
Birth Defects Orig Artic Ser 9:195-7 (1973)
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