MCID: HYP440
MIFTS: 21

Hyperphosphatasia with Mental Retardation Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome

Aliases & Descriptions for Hyperphosphatasia with Mental Retardation Syndrome:

Name: Hyperphosphatasia with Mental Retardation Syndrome 24 29

Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome

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/superpathways are Post-translational modification- synthesis of GPI-anchored proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis.

Wikipedia : 71 Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been... more...

Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome

Graphical network of the top 20 diseases related to Hyperphosphatasia with Mental Retardation Syndrome:



Diseases related to Hyperphosphatasia with Mental Retardation Syndrome

Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome

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

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome

Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 29 24 PIGV

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome

Publications for Hyperphosphatasia with Mental Retardation Syndrome

Articles related to Hyperphosphatasia with Mental Retardation Syndrome:

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

Variations for Hyperphosphatasia with Mental Retardation Syndrome

Expression for Hyperphosphatasia with Mental Retardation Syndrome

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

Pathways for Hyperphosphatasia with Mental Retardation Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.13 PIGO PIGV PIGW
2
Show member pathways
10.54 PIGO PIGV PIGW PIGY

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.73 PGAP2 PGAP3 PIGO PIGV PIGW PIGY
2 integral component of membrane GO:0016021 9.63 PGAP2 PGAP3 PIGO PIGV PIGW PIGY
3 endoplasmic reticulum GO:0005783 9.35 PGAP2 PGAP3 PIGO PIGV PIGY
4 endoplasmic reticulum membrane GO:0005789 9.1 PGAP2 PGAP3 PIGO PIGV PIGW PIGY

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

id Name GO ID Score Top Affiliating Genes
1 preassembly of GPI anchor in ER membrane GO:0016254 9.16 PIGV PIGW
2 GPI anchor biosynthetic process GO:0006506 9.1 PGAP2 PGAP3 PIGO PIGV PIGW PIGY
3 GPI anchor metabolic process GO:0006505 8.96 PGAP3 PIGW

Sources for Hyperphosphatasia with Mental Retardation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....