MCID: HYP440
MIFTS: 21

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 22 24

Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome

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Wikipedia:68 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. Affiliated tissues include prostate and heart.

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 Syndrome22 PIGV

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome

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

33
Prostate, Heart

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
8.7PIGO, PIGV, PIGW

GO Terms for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1GPI anchor biosynthetic processGO:00065069.5PIGO, PIGW
2preassembly of GPI anchor in ER membraneGO:00162549.0PIGO, PIGV, PIGW
3post-translational protein modificationGO:00436878.7PIGO, PIGV, PIGW

Sources for Hyperphosphatasia with Mental Retardation Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet