HPMR
MCID: HYP441
MIFTS: 38

Hyperphosphatasia with Mental Retardation Syndrome 1 (HPMR) malady

Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases categories

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

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46OMIM, 32MalaCards
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MalaCards: Hyperphosphatasia with Mental Retardation Syndrome 1, also known as hyperphosphatasia-intellectual deficiency syndrome, is related to hyperphosphatasia with mental retardation syndrome 2 and mabry syndrome. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 1 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. Affiliated tissues include bone.

Description from OMIM:46 239300,614749,614207,615716

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 1

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20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
hyperphosphatasia-intellectual deficiency syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hyperphosphatasia with mental retardation syndrome 1 20 22 46
hyperphosphatasia-intellectual deficiency syndrome 48
hyperphosphatasia with mental retardation 60
mabry syndrome 48
hpmr 48


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Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 1

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hyperphosphatasia with Mental Retardation Syndrome 1:



Diseases related to hyperphosphatasia with mental retardation syndrome 1

Clinical Features for Hyperphosphatasia with Mental Retardation Syndrome 1

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46OMIM
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Clinical features from OMIM:

239300,614749,614207,615716

Clinical synopsis from OMIM:

239300

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 1

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

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Drug clinical trials:

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Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 1

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20GeneTests, 22GTR
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Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 1:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 120 22 PIGV

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 1

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32MalaCards
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MalaCards organs/tissues related to Hyperphosphatasia with Mental Retardation Syndrome 1:

32
Bone

Animal Models for Hyperphosphatasia with Mental Retardation Syndrome 1 or affiliated genes

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Publications for Hyperphosphatasia with Mental Retardation Syndrome 1

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Genetic Variations for Hyperphosphatasia with Mental Retardation Syndrome 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 1:

62
id Symbol AA change Variation ID SNP ID
1PIGVp.Gln256LysVAR_064190
2PIGVp.Ala341GluVAR_064191
3PIGVp.Ala341ValVAR_064192
4PIGVp.His385ProVAR_064193

Expression for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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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 1

Search GEO for disease gene expression data for Hyperphosphatasia with Mental Retardation Syndrome 1.

Pathways for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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53Reactome, 29KEGG
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Pathways related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4PIGO, PIGV

Compounds for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phytosphingosine44 2410.6PIGO, PIGV
2sphinganine 1-phosphate44 2410.6PIGO, PIGV
3sphinganine44 2410.5PIGO, PIGV
4sphingosine 1-phosphate28 2410.5PIGO, PIGV
5dihydroceramide44 2410.4PIGV, PIGO
6sphingosine44 11 2411.4PIGO, PIGV
7glucosylceramide44 2410.3PIGO, PIGV
8phosphatidylinositol-3,4,5-trisphosphate44 2410.1PIGO, PIGV

GO Terms for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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16Gene Ontology
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Cellular components related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi membraneGO:0001399.0PGAP2, PGAP3
2endoplasmic reticulum membraneGO:0057898.7PGAP2, PIGO, PIGV
3integral to membraneGO:0160217.7PGAP2, PGAP3, PIGO, PIGV

Biological processes related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1preassembly of GPI anchor in ER membraneGO:0162549.4PIGO, PIGV
2cellular protein metabolic processGO:0442679.4PIGO, PIGV
3C-terminal protein lipidationGO:0065019.3PIGV, PIGO
4post-translational protein modificationGO:0436879.1PIGO, PIGV
5GPI anchor biosynthetic processGO:0065068.1PGAP2, PGAP3, PIGO, PIGV

Products for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperphosphatasia with Mental Retardation Syndrome 1

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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