MCID: ACD011
MIFTS: 27

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 37 29 40 73
Lysosomal Acid Phosphatase Deficiency 57 59 13

Characteristics:

Orphanet epidemiological data:

59
lysosomal acid phosphatase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
acid phosphatase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 200950
Orphanet 59 ORPHA35121
UMLS via Orphanet 74 C0268410
ICD10 via Orphanet 34 E83.3
MedGen 42 C0268410
KEGG 37 H01113
UMLS 73 C0268410

Summaries for Acid Phosphatase Deficiency

MalaCards based summary : Acid Phosphatase Deficiency, also known as lysosomal acid phosphatase deficiency, is related to phosphatase, acid, of tissues and systemic lupus erythematosus. 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 liver and bone, and related phenotypes are muscular hypotonia and vomiting

Description from OMIM: 200950

Related Diseases for Acid Phosphatase Deficiency

Diseases related to Acid Phosphatase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 phosphatase, acid, of tissues 9.9
2 systemic lupus erythematosus 9.8
3 lupus erythematosus 9.8

Symptoms & Phenotypes for Acid Phosphatase Deficiency

Symptoms via clinical synopsis from OMIM:

57
G I:
vomiting

Heme:
bleeding diathesis

Neuro:
hypotonia
opisthotonos

Lab:
acid phosphatase deficiency


Clinical features from OMIM:

200950

Human phenotypes related to Acid Phosphatase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 vomiting 32 HP:0002013
3 abnormal bleeding 32 HP:0001892
4 generalized hypotonia 32 HP:0001290
5 opisthotonus 32 HP:0002179

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.96 ACP2 ACP5
2 Increased cell number in S GR00096-A 8.62 ACP2 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:

41
Liver, Bone

Publications for Acid Phosphatase Deficiency

Articles related to Acid Phosphatase Deficiency:

# Title Authors Year
1
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus. ( 27390188 )
2017
2
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. ( 21217755 )
2011
3
Lysosomal tartrate sensitive acid phosphatase deficiency in cells which contain lysosomal "high uptake forms". ( 2322240 )
1990
4
Liver-specific lysosomal acid phosphatase deficiency (Apl) on mouse chromosome 17. ( 600262 )
1977
5
Lysosomal Acid phosphatase deficiency: liver specific variant in the mouse. ( 17248764 )
1977
6
Treatment of acid phosphatase deficiency disorders. ( 4139985 )
1973
7
Platelets acid phosphatase values in normal and in pathological conditions. (Acid phosphatase deficiency in Glanzman disease). ( 5149064 )
1971

Variations for Acid Phosphatase Deficiency

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:

37
# Name Kegg Source Accession
1 Riboflavin metabolism hsa00740
2 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 ACP2 ACP5
2 11.05 ACP2 ACP5
3 9.53 ACP2 ACP5

GO Terms for Acid Phosphatase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.62 ACP2 ACP5

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

# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 8.62 ACP2 ACP5

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

# Name GO ID Score Top Affiliating Genes
1 acid phosphatase activity GO:0003993 8.62 ACP2 ACP5

Sources for Acid Phosphatase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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