MCID: HYP440
MIFTS: 20

Hyperphosphatasia with Mental Retardation Syndrome malady

Neuronal diseases category

Summaries for Hyperphosphatasia with Mental Retardation Syndrome

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63Wikipedia, 32MalaCards
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Wikipedia:63 Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been... more...

MalaCards: Hyperphosphatasia with Mental Retardation Syndrome is related to hyperphosphatasia with mental retardation syndrome 1 and hyperphosphatasia with mental retardation syndrome 2. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome is PIGV (phosphatidylinositol glycan anchor biosynthesis, class V), and among its related pathways is Post-translational modification: synthesis of GPI-anchored proteins. The compounds phytosphingosine and sphinganine 1-phosphate have been mentioned in the context of this disorder.

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome

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20GeneTests, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

hyperphosphatasia with mental retardation syndrome 20 22


Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Hyperphosphatasia with Mental Retardation Syndrome 1 family:

hyperphosphatasia with mental retardation syndrome Hyperphosphatasia with Mental Retardation Syndrome 2
Hyperphosphatasia with Mental Retardation Syndrome 3

Diseases related to Hyperphosphatasia with Mental Retardation Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperphosphatasia with mental retardation syndrome 110.7
2hyperphosphatasia with mental retardation syndrome 210.6
3hyperphosphatasia with mental retardation syndrome 310.5
4west syndrome10.3
5mabry syndrome10.3
6intellectual disability10.0PIGV
7hypophosphatasia10.0ALPL

Graphical network of diseases related to Hyperphosphatasia with Mental Retardation Syndrome:



Diseases related to hyperphosphatasia with mental retardation syndrome

Clinical Features for Hyperphosphatasia with Mental Retardation Syndrome

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Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hyperphosphatasia with Mental Retardation Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Hyperphosphatasia with Mental Retardation Syndrome

Search CenterWatch for Hyperphosphatasia with Mental Retardation Syndrome

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome20 22 PIGV

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome

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Animal Models for Hyperphosphatasia with Mental Retardation Syndrome or affiliated genes

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Publications for Hyperphosphatasia with Mental Retardation Syndrome

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Genetic Variations for Hyperphosphatasia with Mental Retardation Syndrome

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Expression for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

Search GEO for disease gene expression data for Hyperphosphatasia with Mental Retardation Syndrome.

Pathways for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

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53Reactome, 29KEGG
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Pathways related to Hyperphosphatasia with Mental Retardation Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3PIGO, PIGV

Compounds for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Hyperphosphatasia with Mental Retardation Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phytosphingosine44 2410.5PIGV, PIGO
2sphinganine 1-phosphate44 2410.5PIGV, PIGO
3sphinganine44 2410.4PIGO, PIGV
4sphingosine 1-phosphate28 2410.4PIGV, PIGO
5dihydroceramide44 2410.3PIGV, PIGO
6sphingosine44 11 2411.3PIGV, PIGO
7glucosylceramide44 2410.2PIGV, PIGO
8phosphatidylinositol-3,4,5-trisphosphate44 2410.0PIGV, PIGO

GO Terms for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

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16Gene Ontology
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Cellular components related to Hyperphosphatasia with Mental Retardation Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.2PGAP2, PIGO, PIGV
2integral to membraneGO:0160218.0ALPL, PGAP2, PIGO, PIGV

Biological processes related to Hyperphosphatasia with Mental Retardation Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1preassembly of GPI anchor in ER membraneGO:0162549.3PIGO, PIGV
2cellular protein metabolic processGO:0442679.3PIGO, PIGV
3C-terminal protein lipidationGO:0065019.2PIGO, PIGV
4post-translational protein modificationGO:0436879.0PIGO, PIGV
5GPI anchor biosynthetic processGO:0065068.6PGAP2, PIGO, PIGV

Products for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperphosphatasia with Mental Retardation Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet