MCID: ACD011
MIFTS: 28

Acid Phosphatase Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Acid Phosphatase Deficiency

MalaCards integrated aliases for Acid Phosphatase Deficiency:

Name: Acid Phosphatase Deficiency 57 36 29 6 39 70
Lysosomal Acid Phosphatase Deficiency 57 58 13

Characteristics:

Orphanet epidemiological data:

58
lysosomal acid phosphatase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
acid phosphatase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 200950
KEGG 36 H01113
ICD10 via Orphanet 33 E83.3
UMLS via Orphanet 71 C0268410
Orphanet 58 ORPHA35121
MedGen 41 C0268410
UMLS 70 C0268410

Summaries for Acid Phosphatase Deficiency

KEGG : 36 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.

MalaCards based summary : Acid Phosphatase Deficiency, also known as lysosomal acid phosphatase deficiency, is related to spondyloenchondrodysplasia with immune dysregulation and lysosomal storage disease. An important gene associated with Acid Phosphatase Deficiency is ACP2 (Acid Phosphatase 2, Lysosomal), and among its related pathways/superpathways are Riboflavin metabolism and Lysosome. Affiliated tissues include cortex, liver and bone, and related phenotypes are vomiting and abnormal bleeding

More information from OMIM: 200950

Related Diseases for Acid Phosphatase Deficiency

Graphical network of the top 20 diseases related to Acid Phosphatase Deficiency:



Diseases related to Acid Phosphatase Deficiency

Symptoms & Phenotypes for Acid Phosphatase Deficiency

Human phenotypes related to Acid Phosphatase Deficiency:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 vomiting 31 HP:0002013
2 abnormal bleeding 31 HP:0001892
3 generalized hypotonia 31 HP:0001290
4 opisthotonus 31 HP:0002179
5 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
G I:
vomiting

Heme:
bleeding diathesis

Neuro:
hypotonia
opisthotonos

Lab:
acid phosphatase deficiency

Clinical features from OMIM®:

200950 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Acid Phosphatase Deficiency according to GeneCards Suite gene sharing:

26 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.32 ACP5

Drugs & Therapeutics for Acid Phosphatase Deficiency

Search Clinical Trials , NIH Clinical Center for Acid Phosphatase Deficiency

Genetic Tests for Acid Phosphatase Deficiency

Genetic tests related to Acid Phosphatase Deficiency:

# Genetic test Affiliating Genes
1 Acid Phosphatase Deficiency 29 ACP2

Anatomical Context for Acid Phosphatase Deficiency

MalaCards organs/tissues related to Acid Phosphatase Deficiency:

40
Cortex, Liver, Bone

Publications for Acid Phosphatase Deficiency

Articles related to Acid Phosphatase Deficiency:

(showing 11, show less)
# Title Authors PMID Year
1
Treatment of acid phosphatase deficiency disorders. 57 61
4139985 1973
2
Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder. 57
5410815 1970
3
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus. 61
27390188 2017
4
Spatial and temporal expression of lysosomal acid phosphatase 2 (ACP2) reveals dynamic patterning of the mouse cerebellar cortex. 61
23780826 2013
5
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. 61
21217755 2011
6
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. 61
20691590 2010
7
Lysosomal tartrate sensitive acid phosphatase deficiency in cells which contain lysosomal "high uptake forms". 61
2322240 1990
8
Isolation and characterization of acid phosphatase mutants in Schizosaccharomycespombe. 61
24186226 1982
9
Liver-specific lysosomal acid phosphatase deficiency (Apl) on mouse chromosome 17. 61
600262 1977
10
Lysosomal Acid phosphatase deficiency: liver specific variant in the mouse. 61
17248764 1977
11
Platelets acid phosphatase values in normal and in pathological conditions. (Acid phosphatase deficiency in Glanzman disease). 61
5149064 1971

Variations for Acid Phosphatase Deficiency

ClinVar genetic disease variations for Acid Phosphatase Deficiency:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACP2 NM_001610.4(ACP2):c.767_768del (p.Gln256fs) Deletion Pathogenic 1032760 GRCh37: 11:47266290-47266291
GRCh38: 11:47244739-47244740

Expression for Acid Phosphatase Deficiency

Search GEO for disease gene expression data for Acid Phosphatase Deficiency.

Pathways for Acid Phosphatase Deficiency

Pathways related to Acid Phosphatase Deficiency according to KEGG:

36 (showing 2, show less)
# Name Kegg Source Accession
1 Riboflavin metabolism hsa00740
2 Lysosome hsa04142

Pathways related to Acid Phosphatase Deficiency according to GeneCards Suite gene sharing:

(showing 3, show less)
# Super pathways Score Top Affiliating Genes
1 11.26 ACP5 ACP2
2 10.89 ACP5 ACP2
3 9.53 ACP5 ACP2

GO Terms for Acid Phosphatase Deficiency

Cellular components related to Acid Phosphatase Deficiency according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.62 ACP5 ACP2

Biological processes related to Acid Phosphatase Deficiency according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 8.62 ACP5 ACP2

Molecular functions related to Acid Phosphatase Deficiency according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 acid phosphatase activity GO:0003993 8.62 ACP5 ACP2

Sources for Acid Phosphatase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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