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Acid phosphatase deficiency

MedGen UID:
78674
•Concept ID:
C0268410
•
Disease or Syndrome
Synonym: Lysosomal acid phosphatase deficiency
SNOMED CT: Acid phosphatase deficiency (57863006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): ACP2 (11p11.2)
 
Monarch Initiative: MONDO:0008705
OMIM®: 200950
Orphanet: ORPHA35121

Definition

A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1971. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcid phosphatase deficiency
Follow this link to review classifications for Acid phosphatase deficiency in Orphanet.

Professional guidelines

PubMed

Treatment of acid phosphatase deficiency disorders.
Nadler HL
Birth Defects Orig Artic Ser 1973 Mar;9(2):195-7. PMID: 4139985

Recent clinical studies

Etiology

Present status of amniocentesis in intrauterine diagnosis of genetic defects.
Nadler HL, Gerbie A
Obstet Gynecol 1971 Nov;38(5):789-99. PMID: 5114231

Diagnosis

Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.
de Bruin C, Orbak Z, Andrew M, Hwa V, Dauber A
Horm Res Paediatr 2016;85(5):358-62. Epub 2016 Jan 21 doi: 10.1159/000443684. PMID: 26789720Free PMC Article
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Laforêt P, Vianey-Saban C
Neuromuscul Disord 2010 Nov;20(11):693-700. Epub 2010 Aug 5 doi: 10.1016/j.nmd.2010.06.018. PMID: 20691590
Acid phosphatases.
Bull H, Murray PG, Thomas D, Fraser AM, Nelson PN
Mol Pathol 2002 Apr;55(2):65-72. doi: 10.1136/mp.55.2.65. PMID: 11950951Free PMC Article
Lysosomal tartrate sensitive acid phosphatase deficiency in cells which contain lysosomal "high uptake forms".
Hu P, Parenti G, Keulemans J, Hoogeveen AT
Biochem Biophys Res Commun 1990 Mar 16;167(2):520-7. doi: 10.1016/0006-291x(90)92055-5. PMID: 2322240
Present status of amniocentesis in intrauterine diagnosis of genetic defects.
Nadler HL, Gerbie A
Obstet Gynecol 1971 Nov;38(5):789-99. PMID: 5114231

Therapy

Treatment of acid phosphatase deficiency disorders.
Nadler HL
Birth Defects Orig Artic Ser 1973 Mar;9(2):195-7. PMID: 4139985
Present status of amniocentesis in intrauterine diagnosis of genetic defects.
Nadler HL, Gerbie A
Obstet Gynecol 1971 Nov;38(5):789-99. PMID: 5114231

Prognosis

Type A Francisella tularensis acid phosphatases contribute to pathogenesis.
Mohapatra NP, Soni S, Rajaram MV, Strandberg KL, Gunn JS
PLoS One 2013;8(2):e56834. Epub 2013 Feb 15 doi: 10.1371/journal.pone.0056834. PMID: 23457625Free PMC Article

Clinical prediction guides

Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.
An J, Briggs TA, Dumax-Vorzet A, Alarcón-Riquelme ME, Belot A, Beresford M, Bruce IN, Carvalho C, Chaperot L, Frostegård J, Plumas J, Rice GI, Vyse TJ, Wiedeman A, Crow YJ, Elkon KB
Arthritis Rheumatol 2017 Jan;69(1):131-142. Epub 2016 Dec 2 doi: 10.1002/art.39810. PMID: 27390188
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ
J Clin Immunol 2016 Apr;36(3):220-34. Epub 2016 Mar 8 doi: 10.1007/s10875-016-0252-y. PMID: 26951490Free PMC Article
Type A Francisella tularensis acid phosphatases contribute to pathogenesis.
Mohapatra NP, Soni S, Rajaram MV, Strandberg KL, Gunn JS
PLoS One 2013;8(2):e56834. Epub 2013 Feb 15 doi: 10.1371/journal.pone.0056834. PMID: 23457625Free PMC Article
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, Baskar K, Baskar S, Baudouin V, Beresford MW, Black GC, Dearman RJ, de Zegher F, Foster ES, Francès C, Hayman AR, Hilton E, Job-Deslandre C, Kulkarni ML, Le Merrer M, Linglart A, Lovell SC, Maurer K, Musset L, Navarro V, Picard C, Puel A, Rieux-Laucat F, Roifman CM, Scholl-Bürgi S, Smith N, Szynkiewicz M, Wiedeman A, Wouters C, Zeef LA, Casanova JL, Elkon KB, Janckila A, Lebon P, Crow YJ
Nat Genet 2011 Feb;43(2):127-31. Epub 2011 Jan 9 doi: 10.1038/ng.748. PMID: 21217755Free PMC Article
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Laforêt P, Vianey-Saban C
Neuromuscul Disord 2010 Nov;20(11):693-700. Epub 2010 Aug 5 doi: 10.1016/j.nmd.2010.06.018. PMID: 20691590

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