MCID: HYP440
MIFTS: 20

Hyperphosphatasia with Mental Retardation Syndrome malady

Categories: Genetic diseases (common), Neuronal diseases, Mental diseases

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome

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Aliases & Descriptions for Hyperphosphatasia with Mental Retardation Syndrome:

Name: Hyperphosphatasia with Mental Retardation Syndrome 23 25

Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome

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Wikipedia:69 Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been... more...

MalaCards based summary: 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.

Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome

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



Diseases related to hyperphosphatasia with mental retardation syndrome

Symptoms for Hyperphosphatasia with Mental Retardation Syndrome

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Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hyperphosphatasia with Mental Retardation Syndrome

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome

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Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome25 23 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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Articles related to Hyperphosphatasia with Mental Retardation Syndrome:

idTitleAuthorsYear
1
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. (23561847)
2013
2
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. (24129430)
2013
3
Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. (24367057)
2013

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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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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Pathways related to Hyperphosphatasia with Mental Retardation Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.1PIGO, PIGV, PIGW, PIGY

GO Terms for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

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Cellular components related to Hyperphosphatasia with Mental Retardation Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057897.5PGAP2, PIGO, PIGV, PIGW, PIGY
2integral component of membraneGO:00160217.1PGAP2, PGAP3, PIGO, PIGV, PIGW, PIGY

Biological processes related to Hyperphosphatasia with Mental Retardation Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GPI anchor metabolic processGO:00065059.6PGAP3, PIGW
2preassembly of GPI anchor in ER membraneGO:00162549.3PIGV, PIGW
3GPI anchor biosynthetic processGO:00065067.7PGAP2, PGAP3, PIGO, PIGV, PIGY

Sources for Hyperphosphatasia with Mental Retardation Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet