MCID: HYP629
MIFTS: 18

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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Aliases & Descriptions for Hyperphosphatasia-Intellectual Disability Syndrome:

Name: Hyperphosphatasia-Intellectual Disability Syndrome 51
Hyperphosphatasia with Mental Retardation 65
 
Mabry Syndrome 51
Hpmr 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
hyperphosphatasia-intellectual disability syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 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 3. An important gene associated with Hyperphosphatasia-Intellectual Disability Syndrome is PIGW (Phosphatidylinositol Glycan Anchor Biosynthesis, Class W), and among its related pathways are Transport to the Golgi and subsequent modification and Post-translational modification- synthesis of GPI-anchored proteins. 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 110.6
2hyperphosphatasia with mental retardation syndrome 310.1
3hyperphosphatasia with mental retardation syndrome 410.1
4congenital nystagmus10.0PIGV, PIGW
5hyperphosphatemic familial tumoral calcinosis, fgf23-related9.1PGAP2, PGAP3, PIGO, PIGV, PIGW
6superficial siderosis9.0PGAP2, PGAP3, PIGL, PIGO, PIGV, PIGW

Graphical network of diseases related to Hyperphosphatasia-Intellectual Disability Syndrome:



Diseases related to hyperphosphatasia-intellectual disability syndrome

Symptoms for Hyperphosphatasia-Intellectual Disability Syndrome

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Drugs & Therapeutics for Hyperphosphatasia-Intellectual Disability Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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:

33
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:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1PGAP3NM_033419.4(PGAP3): c.275G> A (p.Gly92Asp)single nucleotide variantPathogenicrs587777251GRCh37Chr 17, 37842179: 37842179
2PGAP3PGAP3, 1-BP DUP, 439CduplicationPathogenic
3PGAP3NM_033419.4(PGAP3): c.914A> G (p.Asp305Gly)single nucleotide variantPathogenicrs587777252GRCh37Chr 17, 37829105: 37829105
4PGAP3NM_033419.4(PGAP3): c.314C> G (p.Pro105Arg)single nucleotide variantPathogenicrs371549948GRCh37Chr 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 variantPathogenicrs376328153GRCh37Chr 1, 27121019: 27121019
10PIGWNM_178517.3(PIGW): c.211A> C (p.Thr71Pro)single nucleotide variantPathogenicrs587777733GRCh38Chr 17, 36537312: 36537312
11PIGWNM_178517.3(PIGW): c.499A> G (p.Met167Val)single nucleotide variantPathogenicrs200024253GRCh38Chr 17, 36537600: 36537600
12PIGVNM_017837.3(PIGV): c.467G> A (p.Cys156Tyr)single nucleotide variantPathogenicrs387907023GRCh37Chr 1, 27120992: 27120992
13PIGONM_032634.3(PIGO): c.2869C> T (p.Leu957Phe)single nucleotide variantPathogenicrs142164373GRCh37Chr 9, 35090263: 35090263
14PIGONM_032634.3(PIGO): c.2361dupCduplicationPathogenicrs770591449GRCh37Chr 9, 35091523: 35091523
15PIGONM_032634.3(PIGO): c.3069+5G> Asingle nucleotide variantPathogenicrs368953604GRCh37Chr 9, 35090058: 35090058
16PGAP2PGAP2, TYR99CYSsingle nucleotide variantPathogenic
17PGAP2PGAP2, ARG177PROsingle nucleotide variantPathogenic
18PGAP2PGAP2, LEU127SERsingle nucleotide variantPathogenic
19PGAP2PGAP2, ARG16TRPundetermined variantPathogenic
20PGAP2NM_001145438.2(PGAP2): c.479C> T (p.Thr160Ile)single nucleotide variantPathogenicrs587776970GRCh37Chr 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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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:00057898.1PGAP2, PIGL, PIGO, PIGV, PIGW
2integral component of membraneGO:00160217.1PGAP2, PGAP3, PIGL, PIGO, PIGV, PIGW

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

idNameGO IDScoreTop Affiliating Genes
1GPI anchor metabolic processGO:00065059.8PGAP3, PIGW
2preassembly of GPI anchor in ER membraneGO:00162549.1PIGL, PIGO, PIGV, PIGW
3C-terminal protein lipidationGO:00065019.0PIGL, PIGO, PIGV, PIGW
4cellular protein metabolic processGO:00442678.6PIGL, PIGO, PIGV, PIGW
5post-translational protein modificationGO:00436878.3PIGL, PIGO, PIGV, PIGW
6GPI anchor biosynthetic processGO:00065067.7PGAP2, PGAP3, PIGL, PIGO, PIGV, PIGW

Sources for Hyperphosphatasia-Intellectual Disability Syndrome

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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