HPMR
MCID: HYP441
MIFTS: 42

Hyperphosphatasia with Mental Retardation Syndrome 1 (HPMR) malady

Genetic diseases, Neuronal diseases, Bone diseases, Fetal diseases, Rare diseases, Mental diseases categories
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Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

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47OMIM, 33MalaCards
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MalaCards: Hyperphosphatasia with Mental Retardation Syndrome 1, also known as hyperphosphatasia-intellectual disability syndrome, is related to mabry syndrome and hyperphosphatasia with mental retardation syndrome. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 1 is PIGV (phosphatidylinositol glycan anchor biosynthesis, class V), and among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Post-translational modification- synthesis of GPI-anchored proteins. The compounds Ganglioside GQ1c (d18:0/16:0) and Ganglioside GT1b (d18:0/18:1(11Z)) have been mentioned in the context of this disorder. Affiliated tissues include bone.

Description from OMIM:47 239300,614749,614207,615716

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 1

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20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hyperphosphatasia-intellectual disability syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hyperphosphatasia with mental retardation syndrome 1 20 22 47
hyperphosphatasia-intellectual disability syndrome 49
hyperphosphatasia with mental retardation 62
mabry syndrome 49
hpmr 49


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Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 1

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17GeneCards, 18GeneDecks
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Symptoms for Hyperphosphatasia with Mental Retardation Syndrome 1

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47OMIM
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Symptoms by clinical synopsis from OMIM:

239300

Clinical features from OMIM:

239300,614749,614207,615716

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 1

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hyperphosphatasia with Mental Retardation Syndrome 1

Search NIH Clinical Center for Hyperphosphatasia with Mental Retardation Syndrome 1

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 1

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20GeneTests, 22GTR
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Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 1:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 120 22 PIGV

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 1

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33MalaCards
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MalaCards organs/tissues related to Hyperphosphatasia with Mental Retardation Syndrome 1:

33
Bone

Animal Models for Hyperphosphatasia with Mental Retardation Syndrome 1 or affiliated genes

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Publications for Hyperphosphatasia with Mental Retardation Syndrome 1

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Variations for Hyperphosphatasia with Mental Retardation Syndrome 1

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 1:

64
id Symbol AA change Variation ID SNP ID
1PIGVp.Gln256LysVAR_064190
2PIGVp.Ala341GluVAR_064191
3PIGVp.Ala341ValVAR_064192
4PIGVp.His385ProVAR_064193

Clinvar genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1PIGVNM_017837.3(PIGV): c.1022C> A (p.Ala341Glu)single nucleotide variantPathogenicrs139073416GRCh37Chr 1, 27121547: 27121547
2PIGVNM_017837.3(PIGV): c.1154A> C (p.His385Pro)single nucleotide variantPathogenicrs267606951GRCh37Chr 1, 27121679: 27121679
3PIGVNM_017837.3(PIGV): c.766C> A (p.Gln256Lys)single nucleotide variantPathogenicrs267606952GRCh37Chr 1, 27121291: 27121291
4PIGVNM_017837.3(PIGV): c.1022C> T (p.Ala341Val)single nucleotide variantPathogenicrs139073416GRCh37Chr 1, 27121547: 27121547
5PIGVNM_017837.3(PIGV): c.494C> A (p.Ala165Glu)single nucleotide variantPathogenicGRCh37Chr 1, 27121019: 27121019
6PIGVNM_017837.3(PIGV): c.467G> A (p.Cys156Tyr)single nucleotide variantPathogenicrs387907023GRCh37Chr 1, 27120992: 27120992

Expression for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

Search GEO for disease gene expression data for Hyperphosphatasia with Mental Retardation Syndrome 1.

Pathways for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.7PIGV, PIGO, PIGW
2
Show member pathways
8.7PIGV, PIGO, PIGW

Compounds for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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24HMDB
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Compounds related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

(show top 50)    (show all 898)
idCompoundScoreTop Affiliating Genes
1Ganglioside GQ1c (d18:0/16:0)249.1PIGV, PIGO, PIGW
2Ganglioside GT1b (d18:0/18:1(11Z))249.1PIGW, PIGO, PIGV
3Ganglioside GT1b (d18:0/18:1(9Z))249.1PIGV, PIGO, PIGW
4Ganglioside GT1b (d18:0/20:0)249.1PIGV, PIGO, PIGW
5Ganglioside GT1b (d18:1/18:1(9Z))249.1PIGV, PIGO, PIGW
6Ganglioside GT1b (d18:1/20:0)249.1PIGV, PIGO, PIGW
7Ganglioside GT1b (d18:1/22:0)249.1PIGV, PIGO, PIGW
8Ganglioside GQ1c (d18:1/18:1(9Z))249.1PIGW, PIGV, PIGO
9Ganglioside GQ1c (d18:0/18:0)249.1PIGV, PIGO, PIGW
10Ganglioside GQ1c (d18:0/18:1(11Z))249.1PIGV, PIGO, PIGW
11Ganglioside GQ1c (d18:1/18:0)249.1PIGV, PIGO, PIGW
12Ganglioside GQ1c (d18:1/18:1(11Z))249.1PIGV, PIGO, PIGW
13Ganglioside GT1c (d18:0/20:0)249.1PIGV, PIGO, PIGW
14Ganglioside GT2 (d18:1/23:0)249.1PIGO, PIGW, PIGV
15Ganglioside GT2 (d18:1/24:0)249.1PIGV, PIGO, PIGW
16Ganglioside GT3 (d18:0/24:0)249.1PIGV, PIGO, PIGW
17Ganglioside GT3 (d18:0/24:1(15Z))249.1PIGV, PIGO, PIGW
18Ganglioside GT3 (d18:1/24:1(15Z))249.1PIGV, PIGO, PIGW
19Ganglioside GT3 (d18:1/25:0)249.1PIGV, PIGO, PIGW
20Ganglioside GT2 (d18:0/23:0)249.1PIGW, PIGO, PIGV
21Ganglioside GT1c (d18:0/22:0)249.1PIGV, PIGO, PIGW
22Ganglioside GT1c (d18:0/22:1(13Z))249.1PIGV, PIGO, PIGW
23Ganglioside GT1c (d18:1/22:0)249.1PIGV, PIGO, PIGW
24Ganglioside GT1c (d18:1/22:1(13Z))249.1PIGV, PIGO, PIGW
25Ganglioside GT2 (d18:0/22:1(13Z))249.0PIGV, PIGO, PIGW
26Ganglioside GD1a (d18:0/18:1(11Z))249.0PIGV, PIGO, PIGW
27Ganglioside GD1b (d18:0/20:0)249.0PIGW, PIGO, PIGV
28Ganglioside GD1b (d18:0/22:0)249.0PIGV, PIGO, PIGW
29Ganglioside GD1b (d18:0/22:1(13Z))249.0PIGV, PIGO, PIGW
30Ganglioside GD1b (d18:1/22:0)249.0PIGV, PIGO, PIGW
31Ganglioside GD1b (d18:1/22:1(13Z))249.0PIGV, PIGO, PIGW
32Ganglioside GD1b (d18:1/23:0)249.0PIGV, PIGO, PIGW
33Ganglioside GD1a (d18:1/22:0)249.0PIGW, PIGV, PIGO
34Ganglioside GD1a (d18:0/18:1(9Z))249.0PIGV, PIGO, PIGW
35Ganglioside GD1a (d18:0/20:0)249.0PIGV, PIGO, PIGW
36Ganglioside GD1a (d18:1/18:1(9Z))249.0PIGV, PIGO, PIGW
37Ganglioside GD1a (d18:1/20:0)249.0PIGV, PIGO, PIGW
38Ganglioside GD2 (d18:0/22:1(13Z))248.9PIGV, PIGO, PIGW
39Ganglioside GD3 (d18:0/24:1(15Z))248.9PIGO, PIGW, PIGV
40Ganglioside GD3 (d18:0/25:0)248.9PIGV, PIGO, PIGW
41Ganglioside GM3 (d18:0/12:0)248.9PIGV, PIGO, PIGW
42Ganglioside GM3 (d18:0/14:0)248.9PIGV, PIGO, PIGW
43Ganglioside GM3 (d18:0/16:0)248.9PIGV, PIGO, PIGW
44Ganglioside GM3 (d18:1/14:0)248.8PIGV, PIGO, PIGW
45Ganglioside GD3 (d18:0/24:0)248.8PIGW, PIGO, PIGV
46Ganglioside GD2 (d18:0/23:0)248.7PIGV, PIGO, PIGW
47Ganglioside GD2 (d18:0/24:0)248.7PIGV, PIGO, PIGW
48Ganglioside GD2 (d18:1/25:0)248.7PIGV, PIGO, PIGW
49Ganglioside GD2 (d18:1/24:0)248.6PIGV, PIGO, PIGW
50Ganglioside GD2 (d18:1/24:1(15Z))248.4PIGV, PIGO, PIGW

GO Terms for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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16Gene Ontology
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Cellular components related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057897.8PGAP2, PIGV, PIGO, PIGW
2integral component of membraneGO:0160217.5PGAP3, PGAP2, PIGV, PIGO, PIGW

Biological processes related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1preassembly of GPI anchor in ER membraneGO:0162548.7PIGV, PIGO, PIGW
2cellular protein metabolic processGO:0442678.7PIGV, PIGO, PIGW
3C-terminal protein lipidationGO:0065018.6PIGW, PIGO, PIGV
4post-translational protein modificationGO:0436878.4PIGV, PIGO, PIGW
5GPI anchor biosynthetic processGO:0065068.1PGAP3, PGAP2, PIGV, PIGO

Products for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperphosphatasia with Mental Retardation Syndrome 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet