MCID: HYP440
MIFTS: 19

Hyperphosphatasia with Mental Retardation Syndrome malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome

About this section

Aliases & Descriptions for Hyperphosphatasia with Mental Retardation Syndrome:

Name: Hyperphosphatasia with Mental Retardation Syndrome 22 24


Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome

About this section
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

About this section

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

About this section

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome

About this section

Interventional clinical trials:

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

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome

About this section

Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome22 24 PIGV

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome

About this section

Animal Models for Hyperphosphatasia with Mental Retardation Syndrome or affiliated genes

About this section

Publications for Hyperphosphatasia with Mental Retardation Syndrome

About this section

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

About this section

Expression for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

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

Pathways for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.7PIGO, PIGV, PIGW

GO Terms for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057898.2PGAP2, PIGO, PIGV, PIGW
2integral component of membraneGO:00160217.5PGAP2, PGAP3, PIGO, PIGV, PIGW

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

idNameGO IDScoreTop Affiliating Genes
1GPI anchor metabolic processGO:00065059.7PGAP3, PIGW
2preassembly of GPI anchor in ER membraneGO:00162549.2PIGO, PIGV, PIGW
3C-terminal protein lipidationGO:00065019.1PIGO, PIGV, PIGW
4cellular protein metabolic processGO:00442678.7PIGO, PIGV, PIGW
5post-translational protein modificationGO:00436878.4PIGO, PIGV, PIGW
6GPI anchor biosynthetic processGO:00065068.1PGAP2, PGAP3, PIGO, PIGV, PIGW

Sources for Hyperphosphatasia with Mental Retardation Syndrome

About this section
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