MCID: HYP440
MIFTS: 34

Hyperphosphatasia with Mental Retardation Syndrome malady

Genetic diseases, Neuronal diseases, Mental diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases categories
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Summaries for Hyperphosphatasia with Mental Retardation Syndrome

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Wikipedia:65 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. The compounds Ganglioside GQ1c (d18:0/16:0) and Ganglioside GT1b (d18:0/18:1(9Z)) have been mentioned in the context of this disorder.

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome

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Hyperphosphatasia with Mental Retardation Syndrome, Aliases & Descriptions:

Name: Hyperphosphatasia with Mental Retardation Syndrome 20 22


Classifications:



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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Drug clinical trials:

Search ClinicalTrials for Hyperphosphatasia with Mental Retardation Syndrome

Search 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 Syndrome20 22 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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Expression patterns in normal tissues for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

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/GeneDecks:

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

Compounds for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

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Compounds related to Hyperphosphatasia with Mental Retardation Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 896)
idCompoundScoreTop Affiliating Genes
1Ganglioside GQ1c (d18:0/16:0)249.9PIGV, PIGO
2Ganglioside GT1b (d18:0/18:1(9Z))249.8PIGV, PIGO
3Ganglioside GT1b (d18:0/20:0)249.8PIGV, PIGO
4Ganglioside GT1b (d18:1/18:1(9Z))249.8PIGV, PIGO
5Ganglioside GT1b (d18:1/20:0)249.8PIGV, PIGO
6Ganglioside GT1b (d18:1/22:0)249.8PIGV, PIGO
7Ganglioside GT1b (d18:0/18:1(11Z))249.8PIGO, PIGV
8Ganglioside GQ1c (d18:1/18:1(9Z))249.8PIGO, PIGV
9Ganglioside GQ1c (d18:0/18:0)249.8PIGV, PIGO
10Ganglioside GQ1c (d18:0/18:1(11Z))249.8PIGV, PIGO
11Ganglioside GQ1c (d18:1/18:0)249.8PIGV, PIGO
12Ganglioside GQ1c (d18:1/18:1(11Z))249.8PIGV, PIGO
13Ganglioside GT1c (d18:0/20:0)249.8PIGV, PIGO
14Ganglioside GT2 (d18:1/23:0)249.8PIGO, PIGV
15Ganglioside GT2 (d18:1/24:0)249.8PIGV, PIGO
16Ganglioside GT3 (d18:0/24:0)249.8PIGV, PIGO
17Ganglioside GT3 (d18:0/24:1(15Z))249.8PIGV, PIGO
18Ganglioside GT3 (d18:1/24:1(15Z))249.8PIGV, PIGO
19Ganglioside GT3 (d18:1/25:0)249.8PIGV, PIGO
20Ganglioside GT2 (d18:0/23:0)249.8PIGO, PIGV
21Ganglioside GT1c (d18:0/22:0)249.8PIGV, PIGO
22Ganglioside GT1c (d18:0/22:1(13Z))249.8PIGV, PIGO
23Ganglioside GT1c (d18:1/22:0)249.8PIGV, PIGO
24Ganglioside GT1c (d18:1/22:1(13Z))249.8PIGV, PIGO
25Ganglioside GT2 (d18:0/22:1(13Z))249.8PIGV, PIGO
26Ganglioside GD1a (d18:0/18:1(11Z))249.8PIGV, PIGO
27Ganglioside GD1b (d18:0/22:0)249.8PIGV, PIGO
28Ganglioside GD1b (d18:0/22:1(13Z))249.8PIGV, PIGO
29Ganglioside GD1b (d18:1/22:0)249.7PIGV, PIGO
30Ganglioside GD1b (d18:1/22:1(13Z))249.7PIGV, PIGO
31Ganglioside GD1b (d18:1/23:0)249.7PIGV, PIGO
32Ganglioside GD1b (d18:0/20:0)249.7PIGO, PIGV
33Ganglioside GD1a (d18:1/22:0)249.7PIGO, PIGV
34Ganglioside GD1a (d18:0/18:1(9Z))249.7PIGV, PIGO
35Ganglioside GD1a (d18:0/20:0)249.7PIGV, PIGO
36Ganglioside GD1a (d18:1/18:1(9Z))249.7PIGV, PIGO
37Ganglioside GD1a (d18:1/20:0)249.7PIGV, PIGO
38Ganglioside GD2 (d18:0/22:1(13Z))249.7PIGV, PIGO
39Ganglioside GD3 (d18:0/24:1(15Z))249.7PIGO, PIGV
40Ganglioside GD3 (d18:0/25:0)249.6PIGV, PIGO
41Ganglioside GM3 (d18:0/12:0)249.6PIGV, PIGO
42Ganglioside GM3 (d18:0/14:0)249.6PIGV, PIGO
43Ganglioside GM3 (d18:0/16:0)249.6PIGV, PIGO
44Ganglioside GM3 (d18:1/14:0)249.5PIGV, PIGO
45Ganglioside GD3 (d18:0/24:0)249.5PIGO, PIGV
46Ganglioside GD2 (d18:0/23:0)249.5PIGV, PIGO
47Ganglioside GD2 (d18:0/24:0)249.4PIGV, PIGO
48Ganglioside GD2 (d18:1/25:0)249.4PIGV, PIGO
49Ganglioside GD2 (d18:1/24:0)249.3PIGV, PIGO
50Ganglioside GD2 (d18:1/24:1(15Z))249.1PIGV, PIGO

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.9PGAP2, PIGV, PIGO
2integral component of membraneGO:0160217.2PGAP3, PGAP2, PIGV, PIGO, MRS2

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

idNameGO IDScoreTop Affiliating Genes
1C-terminal protein lipidationGO:0065019.4PIGV, PIGO
2preassembly of GPI anchor in ER membraneGO:0162549.1PIGV, PIGO
3GPI anchor biosynthetic processGO:0065068.0PGAP3, PGAP2, PIGV, PIGO

Products for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hyperphosphatasia with Mental Retardation Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet