MCID: HYP629
MIFTS: 25

Hyperphosphatasia-Intellectual Disability Syndrome

Categories: Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases, Mental diseases

Aliases & Classifications for Hyperphosphatasia-Intellectual Disability Syndrome

MalaCards integrated aliases for Hyperphosphatasia-Intellectual Disability Syndrome:

Name: Hyperphosphatasia-Intellectual Disability Syndrome 59 29 6
Hyperphosphatasia with Mental Retardation 73
Mabry Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hyperphosphatasia-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA247262
UMLS via Orphanet 74 C1855923
UMLS 73 C1855923

Summaries for Hyperphosphatasia-Intellectual Disability Syndrome

MalaCards based summary : Hyperphosphatasia-Intellectual Disability Syndrome, also known as hyperphosphatasia with mental retardation, is related to hyperphosphatasia with mental retardation syndrome 1 and diaphragmatic hernia, congenital, and has symptoms including seizures An important gene associated with Hyperphosphatasia-Intellectual Disability 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. Affiliated tissues include bone.

Related Diseases for Hyperphosphatasia-Intellectual Disability Syndrome

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

# Related Disease Score Top Affiliating Genes
1 hyperphosphatasia with mental retardation syndrome 1 12.0
2 diaphragmatic hernia, congenital 9.9
3 fryns syndrome 9.9
4 glycosylphosphatidylinositol deficiency 9.9 PIGV PIGW
5 anterior segment dysgenesis 4 9.7 PIGO PIGW
6 epileptic encephalopathy, early infantile, 9 9.7 PIGO PIGV

Graphical network of the top 20 diseases related to Hyperphosphatasia-Intellectual Disability Syndrome:



Diseases related to Hyperphosphatasia-Intellectual Disability Syndrome

Symptoms & Phenotypes for Hyperphosphatasia-Intellectual Disability Syndrome

UMLS symptoms related to Hyperphosphatasia-Intellectual Disability Syndrome:


seizures

Drugs & Therapeutics for Hyperphosphatasia-Intellectual Disability Syndrome

Search Clinical Trials , NIH Clinical Center for Hyperphosphatasia-Intellectual Disability Syndrome

Genetic Tests for Hyperphosphatasia-Intellectual Disability Syndrome

Genetic tests related to Hyperphosphatasia-Intellectual Disability Syndrome:

# Genetic test Affiliating Genes
1 Hyperphosphatasia-Intellectual Disability Syndrome 29

Anatomical Context for Hyperphosphatasia-Intellectual Disability Syndrome

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

41
Bone

Publications for Hyperphosphatasia-Intellectual Disability Syndrome

Articles related to Hyperphosphatasia-Intellectual Disability Syndrome:

# Title Authors Year
1
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. ( 27120253 )
2016
2
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. ( 24439110 )
2014
3
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. ( 23561847 )
2013
4
Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. ( 24367057 )
2013
5
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. ( 24129430 )
2013
6
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. ( 22683086 )
2012
7
Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome. ( 20080219 )
2010

Variations for Hyperphosphatasia-Intellectual Disability Syndrome

ClinVar genetic disease variations for Hyperphosphatasia-Intellectual Disability Syndrome:

6
(show top 50) (show all 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGV NM_017837.3(PIGV): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic/Likely pathogenic rs139073416 GRCh37 Chromosome 1, 27121547: 27121547
2 PIGV NM_017837.3(PIGV): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic/Likely pathogenic rs139073416 GRCh38 Chromosome 1, 26795056: 26795056
3 PIGV NM_017837.3(PIGV): c.1277C> T (p.Pro426Leu) single nucleotide variant Uncertain significance rs146969255 GRCh37 Chromosome 1, 27124130: 27124130
4 PIGV NM_017837.3(PIGV): c.1277C> T (p.Pro426Leu) single nucleotide variant Uncertain significance rs146969255 GRCh38 Chromosome 1, 26797639: 26797639
5 PIGO NM_032634.3(PIGO): c.2004G> A (p.Leu668=) single nucleotide variant Benign rs10814196 GRCh37 Chromosome 9, 35091880: 35091880
6 PIGO NM_032634.3(PIGO): c.2004G> A (p.Leu668=) single nucleotide variant Benign rs10814196 GRCh38 Chromosome 9, 35091883: 35091883
7 PIGO NM_032634.3(PIGO): c.2268G> A (p.Ala756=) single nucleotide variant Conflicting interpretations of pathogenicity rs149171782 GRCh37 Chromosome 9, 35091616: 35091616
8 PIGO NM_032634.3(PIGO): c.2268G> A (p.Ala756=) single nucleotide variant Conflicting interpretations of pathogenicity rs149171782 GRCh38 Chromosome 9, 35091619: 35091619
9 PIGO NM_032634.3(PIGO): c.3114C> T (p.Leu1038=) single nucleotide variant Benign rs2298314 GRCh37 Chromosome 9, 35089403: 35089403
10 PIGO NM_032634.3(PIGO): c.3114C> T (p.Leu1038=) single nucleotide variant Benign rs2298314 GRCh38 Chromosome 9, 35089406: 35089406
11 PIGO NM_032634.3(PIGO): c.2040G> C (p.Leu680=) single nucleotide variant Conflicting interpretations of pathogenicity rs41274877 GRCh37 Chromosome 9, 35091844: 35091844
12 PIGO NM_032634.3(PIGO): c.2040G> C (p.Leu680=) single nucleotide variant Conflicting interpretations of pathogenicity rs41274877 GRCh38 Chromosome 9, 35091847: 35091847
13 PIGO NM_032634.3(PIGO): c.1120-15C> A single nucleotide variant Benign/Likely benign rs77344591 GRCh38 Chromosome 9, 35092782: 35092782
14 PIGO NM_032634.3(PIGO): c.1120-15C> A single nucleotide variant Benign/Likely benign rs77344591 GRCh37 Chromosome 9, 35092779: 35092779
15 PIGO NM_032634.3(PIGO): c.1119+7A> G single nucleotide variant Benign rs568300 GRCh37 Chromosome 9, 35093020: 35093020
16 PIGO NM_032634.3(PIGO): c.1119+7A> G single nucleotide variant Benign rs568300 GRCh38 Chromosome 9, 35093023: 35093023
17 PIGO NM_032634.3(PIGO): c.461C> A (p.Ala154Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142562923 GRCh37 Chromosome 9, 35095102: 35095102
18 PIGO NM_032634.3(PIGO): c.461C> A (p.Ala154Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142562923 GRCh38 Chromosome 9, 35095105: 35095105
19 PIGO NM_032634.3(PIGO): c.423C> T (p.Gly141=) single nucleotide variant Benign/Likely benign rs116248521 GRCh37 Chromosome 9, 35095140: 35095140
20 PIGO NM_032634.3(PIGO): c.423C> T (p.Gly141=) single nucleotide variant Benign/Likely benign rs116248521 GRCh38 Chromosome 9, 35095143: 35095143
21 PIGO NM_032634.3(PIGO): c.1810dupC (p.Arg604Profs) duplication Pathogenic/Likely pathogenic rs774508288 GRCh37 Chromosome 9, 35092074: 35092074
22 PIGO NM_032634.3(PIGO): c.1810dupC (p.Arg604Profs) duplication Pathogenic/Likely pathogenic rs774508288 GRCh38 Chromosome 9, 35092077: 35092077
23 PIGV NM_017837.3(PIGV): c.101C> T (p.Pro34Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139246652 GRCh37 Chromosome 1, 27120626: 27120626
24 PIGV NM_017837.3(PIGV): c.101C> T (p.Pro34Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139246652 GRCh38 Chromosome 1, 26794135: 26794135
25 PIGV NM_017837.3(PIGV): c.808C> T (p.Arg270Cys) single nucleotide variant Uncertain significance rs374158705 GRCh38 Chromosome 1, 26794842: 26794842
26 PIGV NM_017837.3(PIGV): c.808C> T (p.Arg270Cys) single nucleotide variant Uncertain significance rs374158705 GRCh37 Chromosome 1, 27121333: 27121333
27 PIGV NM_017837.3(PIGV): c.851G> A (p.Gly284Asp) single nucleotide variant Uncertain significance rs557206710 GRCh38 Chromosome 1, 26794885: 26794885
28 PIGV NM_017837.3(PIGV): c.851G> A (p.Gly284Asp) single nucleotide variant Uncertain significance rs557206710 GRCh37 Chromosome 1, 27121376: 27121376
29 PIGV NM_017837.3(PIGV): c.1008A> G (p.Ile336Met) single nucleotide variant Uncertain significance rs1057515437 GRCh38 Chromosome 1, 26795042: 26795042
30 PIGV NM_017837.3(PIGV): c.1008A> G (p.Ile336Met) single nucleotide variant Uncertain significance rs1057515437 GRCh37 Chromosome 1, 27121533: 27121533
31 PIGV NM_017837.3(PIGV): c.1477A> G (p.Thr493Ala) single nucleotide variant Uncertain significance rs1057515548 GRCh38 Chromosome 1, 26797839: 26797839
32 PIGV NM_017837.3(PIGV): c.1477A> G (p.Thr493Ala) single nucleotide variant Uncertain significance rs1057515548 GRCh37 Chromosome 1, 27124330: 27124330
33 PIGV NM_017837.3(PIGV): c.*385A> T single nucleotide variant Uncertain significance rs754912311 GRCh38 Chromosome 1, 26798229: 26798229
34 PIGV NM_017837.3(PIGV): c.*385A> T single nucleotide variant Uncertain significance rs754912311 GRCh37 Chromosome 1, 27124720: 27124720
35 PIGV NM_017837.3(PIGV): c.-333C> T single nucleotide variant Uncertain significance rs118069986 GRCh37 Chromosome 1, 27114484: 27114484
36 PIGV NM_017837.3(PIGV): c.-333C> T single nucleotide variant Uncertain significance rs118069986 GRCh38 Chromosome 1, 26787993: 26787993
37 PIGV NM_017837.3(PIGV): c.1213T> A (p.Phe405Ile) single nucleotide variant Uncertain significance rs1057515509 GRCh38 Chromosome 1, 26797575: 26797575
38 PIGV NM_017837.3(PIGV): c.1213T> A (p.Phe405Ile) single nucleotide variant Uncertain significance rs1057515509 GRCh37 Chromosome 1, 27124066: 27124066
39 PIGV NM_017837.3(PIGV): c.*210A> G single nucleotide variant Likely benign rs57189461 GRCh37 Chromosome 1, 27124545: 27124545
40 PIGV NM_017837.3(PIGV): c.*210A> G single nucleotide variant Likely benign rs57189461 GRCh38 Chromosome 1, 26798054: 26798054
41 PIGV NM_017837.3(PIGV): c.*441C> T single nucleotide variant Uncertain significance rs777566769 GRCh38 Chromosome 1, 26798285: 26798285
42 PIGV NM_017837.3(PIGV): c.*441C> T single nucleotide variant Uncertain significance rs777566769 GRCh37 Chromosome 1, 27124776: 27124776
43 PIGV NM_017837.3(PIGV): c.-338A> C single nucleotide variant Likely benign rs113400508 GRCh37 Chromosome 1, 27114479: 27114479
44 PIGV NM_017837.3(PIGV): c.-338A> C single nucleotide variant Likely benign rs113400508 GRCh38 Chromosome 1, 26787988: 26787988
45 PIGV NM_017837.3(PIGV): c.-323C> T single nucleotide variant Uncertain significance rs771484813 GRCh37 Chromosome 1, 27114494: 27114494
46 PIGV NM_017837.3(PIGV): c.-323C> T single nucleotide variant Uncertain significance rs771484813 GRCh38 Chromosome 1, 26788003: 26788003
47 PIGV NM_017837.3(PIGV): c.531A> T (p.Thr177=) single nucleotide variant Uncertain significance rs1057515474 GRCh38 Chromosome 1, 26794565: 26794565
48 PIGV NM_017837.3(PIGV): c.531A> T (p.Thr177=) single nucleotide variant Uncertain significance rs1057515474 GRCh37 Chromosome 1, 27121056: 27121056
49 PIGV NM_017837.3(PIGV): c.1464C> T (p.Asn488=) single nucleotide variant Uncertain significance rs973687848 GRCh38 Chromosome 1, 26797826: 26797826
50 PIGV NM_017837.3(PIGV): c.1464C> T (p.Asn488=) single nucleotide variant Uncertain significance rs973687848 GRCh37 Chromosome 1, 27124317: 27124317

Expression for Hyperphosphatasia-Intellectual Disability Syndrome

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

Pathways for Hyperphosphatasia-Intellectual Disability Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 PIGL PIGO PIGV PIGW
2
Show member pathways
10.63 PIGL PIGO PIGV PIGW PIGY

GO Terms for Hyperphosphatasia-Intellectual Disability Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.8 PGAP2 PGAP3 PIGL PIGO PIGV PIGW
2 integral component of membrane GO:0016021 9.7 PGAP2 PGAP3 PIGL PIGO PIGV PIGW
3 endoplasmic reticulum GO:0005783 9.5 PGAP2 PGAP3 PIGL PIGO PIGV PIGW
4 endoplasmic reticulum membrane GO:0005789 9.17 PGAP2 PGAP3 PIGL PIGO PIGV PIGW

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

# Name GO ID Score Top Affiliating Genes
1 preassembly of GPI anchor in ER membrane GO:0016254 9.26 PIGL PIGV PIGW PIGY
2 GPI anchor biosynthetic process GO:0006506 9.17 PGAP2 PGAP3 PIGL PIGO PIGV PIGW
3 GPI anchor metabolic process GO:0006505 9.16 PGAP3 PIGW

Sources for Hyperphosphatasia-Intellectual Disability Syndrome

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62 PubMed
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74 UMLS via Orphanet
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