MCID: HYP629
MIFTS: 26

Hyperphosphatasia-Intellectual Disability Syndrome malady

Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases, Mental diseases categories

Aliases & Classifications for Hyperphosphatasia-Intellectual Disability Syndrome

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Hyperphosphatasia-Intellectual Disability Syndrome, Aliases & Descriptions:

Name: Hyperphosphatasia-Intellectual Disability Syndrome 47
Hyperphosphatasia with Mental Retardation 60
 
Mabry Syndrome 47
Hpmr 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
hyperphosphatasia-intellectual disability syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 247262

Summaries for Hyperphosphatasia-Intellectual Disability Syndrome

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MalaCards based summary: Hyperphosphatasia-Intellectual Disability Syndrome, also known as hyperphosphatasia with mental retardation, is related to hyperphosphatasia with mental retardation syndrome 1 and hyperphosphatasia with mental retardation syndrome. An important gene associated with Hyperphosphatasia-Intellectual Disability Syndrome is PGAP3 (post-GPI attachment to proteins 3), 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 (d18:0/26:0) and Ganglioside GT1b (d18:1/12:0) have been mentioned in the context of this disorder. Affiliated tissues include bone.

Related Diseases for Hyperphosphatasia-Intellectual Disability Syndrome

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Diseases related to Hyperphosphatasia-Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperphosphatasia with mental retardation syndrome 131.0PIGV
2hyperphosphatasia with mental retardation syndrome10.3
3hyperphosphatasia with mental retardation syndrome 310.1
4hyperphosphatasia with mental retardation syndrome 410.1

Symptoms for Hyperphosphatasia-Intellectual Disability Syndrome

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Drugs & Therapeutics for Hyperphosphatasia-Intellectual Disability Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hyperphosphatasia-Intellectual Disability Syndrome

Search NIH Clinical Center for Hyperphosphatasia-Intellectual Disability Syndrome

Genetic Tests for Hyperphosphatasia-Intellectual Disability Syndrome

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Anatomical Context for Hyperphosphatasia-Intellectual Disability Syndrome

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MalaCards organs/tissues related to Hyperphosphatasia-Intellectual Disability Syndrome:

31
Bone

Animal Models for Hyperphosphatasia-Intellectual Disability Syndrome or affiliated genes

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Publications for Hyperphosphatasia-Intellectual Disability Syndrome

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Variations for Hyperphosphatasia-Intellectual Disability Syndrome

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Clinvar genetic disease variations for Hyperphosphatasia-Intellectual Disability Syndrome:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1PGAP3NM_033419.4(PGAP3): c.275G> A (p.Gly92Asp)single nucleotide variantPathogenicGRCh37Chr 17, 37842179: 37842179
2PGAP3PGAP3, 1-BP DUP, 439CduplicationPathogenic
3PGAP3NM_033419.4(PGAP3): c.914A> G (p.Asp305Gly)single nucleotide variantPathogenicGRCh37Chr 17, 37829105: 37829105
4PGAP3NM_033419.4(PGAP3): c.314C> G (p.Pro105Arg)single nucleotide variantPathogenicGRCh37Chr 17, 37840968: 37840968
5PIGVNM_017837.3(PIGV): c.1022C> A (p.Ala341Glu)single nucleotide variantPathogenicrs139073416GRCh37Chr 1, 27121547: 27121547
6PIGVNM_017837.3(PIGV): c.1154A> C (p.His385Pro)single nucleotide variantPathogenicrs267606951GRCh37Chr 1, 27121679: 27121679
7PIGVNM_017837.3(PIGV): c.766C> A (p.Gln256Lys)single nucleotide variantPathogenicrs267606952GRCh37Chr 1, 27121291: 27121291
8PIGVNM_017837.3(PIGV): c.1022C> T (p.Ala341Val)single nucleotide variantPathogenicrs139073416GRCh37Chr 1, 27121547: 27121547
9PIGVNM_017837.3(PIGV): c.494C> A (p.Ala165Glu)single nucleotide variantPathogenicGRCh37Chr 1, 27121019: 27121019
10PIGVNM_017837.3(PIGV): c.467G> A (p.Cys156Tyr)single nucleotide variantPathogenicrs387907023GRCh37Chr 1, 27120992: 27120992
11PIGONM_032634.3(PIGO): c.2869C> T (p.Leu957Phe)single nucleotide variantPathogenicrs142164373GRCh37Chr 9, 35090263: 35090263
12PIGOPIGO, 1-BP DUP, 2361CduplicationPathogenic
13PIGOPIGO, IVS8DS, G-A, +5single nucleotide variantPathogenic
14PGAP2PGAP2, TYR99CYSsingle nucleotide variantPathogenic
15PGAP2PGAP2, ARG177PROsingle nucleotide variantPathogenic
16PGAP2PGAP2, LEU127SERsingle nucleotide variantPathogenic
17PGAP2PGAP2, ARG16TRPundetermined variantPathogenic
18PGAP2NM_001145438.2(PGAP2): c.479C> T (p.Thr160Ile)single nucleotide variantPathogenicGRCh37Chr 11, 3845255: 3845255

Expression for genes affiliated with Hyperphosphatasia-Intellectual Disability Syndrome

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Search GEO for disease gene expression data for Hyperphosphatasia-Intellectual Disability Syndrome.

Pathways for genes affiliated with Hyperphosphatasia-Intellectual Disability Syndrome

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Pathways related to Hyperphosphatasia-Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5PIGV, PIGO, PIGW
2
Show member pathways
8.5PIGV, PIGO, PIGW

Compounds for genes affiliated with Hyperphosphatasia-Intellectual Disability Syndrome

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Compounds related to Hyperphosphatasia-Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 898)
idCompoundScoreTop Affiliating Genes
1Ganglioside GQ1c (d18:0/26:0)249.0PIGV, PIGO, PIGW
2Ganglioside GT1b (d18:1/12:0)249.0PIGW, PIGO, PIGV
3Ganglioside GT1b (d18:1/14:0)249.0PIGV, PIGO, PIGW
4Ganglioside GT1b (d18:1/16:0)249.0PIGV, PIGO, PIGW
5Ganglioside GT1c (d18:0/14:0)249.0PIGV, PIGO, PIGW
6Ganglioside GT1c (d18:0/16:0)248.9PIGV, PIGO, PIGW
7Ganglioside GT1c (d18:0/18:0)248.9PIGV, PIGO, PIGW
8Ganglioside GT1b (d18:0/14:0)248.9PIGW, PIGV, PIGO
9Ganglioside GQ1c (d18:0/26:1(17Z))248.9PIGV, PIGO, PIGW
10Ganglioside GQ1c (d18:1/12:0)248.9PIGV, PIGO, PIGW
11Ganglioside GQ1c (d18:1/26:1(17Z))248.9PIGV, PIGO, PIGW
12Ganglioside GT1b (d18:0/12:0)248.9PIGV, PIGO, PIGW
13Ganglioside GT1c (d18:1/16:0)248.9PIGV, PIGO, PIGW
14Ganglioside GT2 (d18:1/18:1(9Z))248.9PIGO, PIGW, PIGV
15Ganglioside GT2 (d18:1/20:0)248.9PIGV, PIGO, PIGW
16Ganglioside GT3 (d18:0/18:1(9Z))248.9PIGV, PIGO, PIGW
17Ganglioside GT3 (d18:0/20:0)248.9PIGV, PIGO, PIGW
18Ganglioside GT3 (d18:1/20:0)248.9PIGV, PIGO, PIGW
19Ganglioside GT3 (d18:1/22:0)248.9PIGV, PIGO, PIGW
20Ganglioside GT2 (d18:1/18:1(11Z))248.9PIGW, PIGO, PIGV
21Ganglioside GT1c (d18:1/18:0)248.9PIGV, PIGO, PIGW
22Ganglioside GT1c (d18:1/18:1(11Z))248.9PIGV, PIGO, PIGW
23Ganglioside GT2 (d18:0/18:0)248.9PIGV, PIGO, PIGW
24Ganglioside GT2 (d18:0/18:1(11Z))248.9PIGV, PIGO, PIGW
25Ganglioside GT2 (d18:0/18:1(9Z))248.9PIGV, PIGO, PIGW
26Ganglioside GD1a (d18:0/12:0)248.9PIGV, PIGO, PIGW
27Ganglioside GD1b (d18:0/16:0)248.9PIGW, PIGO, PIGV
28Ganglioside GD1b (d18:0/18:0)248.9PIGV, PIGO, PIGW
29Ganglioside GD1b (d18:1/16:0)248.9PIGV, PIGO, PIGW
30Ganglioside GD1b (d18:1/18:0)248.9PIGV, PIGO, PIGW
31Ganglioside GD1b (d18:1/18:1(11Z))248.8PIGV, PIGO, PIGW
32Ganglioside GD2 (d18:0/18:0)248.8PIGV, PIGO, PIGW
33Ganglioside GD1b (d18:0/14:0)248.8PIGW, PIGV, PIGO
34Ganglioside GD1a (d18:0/14:0)248.8PIGV, PIGO, PIGW
35Ganglioside GD1a (d18:1/12:0)248.8PIGV, PIGO, PIGW
36Ganglioside GD1a (d18:1/14:0)248.8PIGV, PIGO, PIGW
37Ganglioside GD1a (d18:1/16:0)248.8PIGV, PIGO, PIGW
38Ganglioside GD2 (d18:0/18:1(11Z))248.8PIGV, PIGO, PIGW
39Ganglioside GD3 (d18:0/22:0)248.8PIGO, PIGW, PIGV
40Ganglioside GD3 (d18:1/22:1(13Z))248.7PIGV, PIGO, PIGW
41Ganglioside GD3 (d18:1/23:0)248.7PIGV, PIGO, PIGW
42Ganglioside GM3 (d18:0/24:1(15Z))248.7PIGV, PIGO, PIGW
43Ganglioside GM3 (d18:0/25:0)248.7PIGV, PIGO, PIGW
44Ganglioside GM3 (d18:0/26:0)248.7PIGV, PIGO, PIGW
45Ganglioside GD3 (d18:0/20:0)248.6PIGW, PIGO, PIGV
46Ganglioside GD2 (d18:0/18:1(9Z))248.6PIGV, PIGO, PIGW
47Ganglioside GD2 (d18:1/18:1(11Z))248.5PIGV, PIGO, PIGW
48Ganglioside GD3 (d18:0/18:1(9Z))248.5PIGV, PIGO, PIGW
49Ganglioside GD2 (d18:1/20:0)248.4PIGV, PIGO, PIGW
50Ganglioside GD2 (d18:1/22:0)248.2PIGV, PIGO, PIGW

GO Terms for genes affiliated with Hyperphosphatasia-Intellectual Disability Syndrome

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Cellular components related to Hyperphosphatasia-Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057897.7PGAP2, PIGV, PIGO, PIGW
2integral component of membraneGO:00160217.5PGAP3, PGAP2, PIGV, PIGO, PIGW

Biological processes related to Hyperphosphatasia-Intellectual Disability Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1preassembly of GPI anchor in ER membraneGO:00162548.5PIGV, PIGO, PIGW
2cellular protein metabolic processGO:00442678.5PIGV, PIGO, PIGW
3C-terminal protein lipidationGO:00065018.4PIGW, PIGO, PIGV
4post-translational protein modificationGO:00436878.2PIGV, PIGO, PIGW
5GPI anchor biosynthetic processGO:00065068.1PGAP3, PGAP2, PIGV, PIGO

Products for genes affiliated with Hyperphosphatasia-Intellectual Disability Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hyperphosphatasia-Intellectual Disability Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet