MCID: HYP629
MIFTS: 41

Hyperphosphatasia-Intellectual Disability Syndrome

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

Aliases & Classifications for Hyperphosphatasia-Intellectual Disability Syndrome

MalaCards integrated aliases for Hyperphosphatasia-Intellectual Disability Syndrome:

Name: Hyperphosphatasia-Intellectual Disability Syndrome 58 29 6
Hyperphosphatasia with Mental Retardation 70
Mabry Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hyperphosphatasia-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


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 PIGO (Phosphatidylinositol Glycan Anchor Biosynthesis Class O), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. Affiliated tissues include bone, and related phenotypes are global developmental delay and hypertelorism

Related Diseases for Hyperphosphatasia-Intellectual Disability Syndrome

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 hyperphosphatasia with mental retardation syndrome 1 32.3 PIGV PIGO PIGG
2 diaphragmatic hernia, congenital 29.5 PIGW PIGV PGAP3
3 hypertelorism 10.1
4 alacrima, achalasia, and mental retardation syndrome 10.1
5 autosomal recessive disease 10.1
6 seizure disorder 10.1
7 coffin-siris syndrome 1 9.9
8 hirschsprung disease 1 9.9
9 anus, imperforate 9.9
10 fryns syndrome 9.9
11 3-methylglutaconic aciduria, type iii 9.9
12 abnormal hair, joint laxity, and developmental delay 9.9
13 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 9.9
14 developmental and epileptic encephalopathy 9 9.9
15 hyperphosphatasia with mental retardation syndrome 3 9.9
16 hyperphosphatasia with mental retardation syndrome 4 9.9
17 inguinal hernia 9.9
18 hydronephrosis 9.9
19 heart septal defect 9.9
20 epilepsy 9.9
21 atrial heart septal defect 9.9
22 constipation 9.9
23 polyhydramnios 9.9
24 hypotonia 9.9
25 congenital muscular dystrophy-dystroglycanopathy type a2 9.9 PIGV PIGL
26 bleeding disorder, platelet-type, 9 9.8 PIGY PIGL
27 muscular dystrophy, congenital, with cataracts and intellectual disability 9.7 PIGY PIGL
28 multiple congenital anomalies-hypotonia-seizures syndrome 3 9.7 PIGY PGAP2
29 hyperphosphatasia with mental retardation syndrome 6 9.7 PYURF PIGY
30 coloboma of macula 9.6 PIGV PIGO PIGL PGAP2
31 multiple congenital anomalies-hypotonia-seizures syndrome 1 9.3 PIGV PIGO PIGL PIGG PGAP2
32 multiple congenital anomalies-hypotonia-seizures syndrome 2 9.3 PIGV PIGO PIGL PIGG PGAP2
33 multiple congenital anomalies-hypotonia-seizures syndrome 8.9 PIGW PIGV PIGO PIGL PIGG PGAP3
34 autosomal recessive non-syndromic intellectual disability 8.8 PIGY PIGV PIGO PIGL PIGG PGAP3
35 anterior segment dysgenesis 4 8.6 PIGY PIGW PIGV PIGO PIGL PIGG

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

Human phenotypes related to Hyperphosphatasia-Intellectual Disability Syndrome:

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 shortening of all distal phalanges of the fingers 58 31 hallmark (90%) Very frequent (99-80%) HP:0006118
4 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
5 elevated alkaline phosphatase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003155
6 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
7 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
8 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
9 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
10 long palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000637
11 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
12 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
13 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
14 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
15 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
16 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
17 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
18 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
19 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
20 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
21 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
22 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
23 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
24 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
25 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
26 reduced tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001315
27 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
28 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
29 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
30 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
31 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
32 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
33 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
34 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
35 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
36 thickened helices 58 31 occasional (7.5%) Occasional (29-5%) HP:0000391
37 anteriorly placed anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001545
38 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
39 broad philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000289
40 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
41 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
42 single umbilical artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0001195
43 supernumerary nipple 58 31 occasional (7.5%) Occasional (29-5%) HP:0002558
44 cupped ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000378
45 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
46 oculomotor apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000657
47 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
48 small nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001792
49 telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001009
50 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540

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:

40
Bone

Publications for Hyperphosphatasia-Intellectual Disability Syndrome

Articles related to Hyperphosphatasia-Intellectual Disability Syndrome:

(show all 39)
# Title Authors PMID Year
1
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. 61 6
27120253 2016
2
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. 61 6
24129430 2014
3
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. 61 6
24439110 2014
4
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). 6 61
22315194 2012
5
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. 61 6
20578257 2010
6
Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum. 6
30217754 2019
7
Expanding the phenome and variome of skeletal dysplasia. 6
29620724 2018
8
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin. 6
30345601 2018
9
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey. 6
30109123 2018
10
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 6
28390064 2018
11
PIGO deficiency: palmoplantar keratoderma and novel mutations. 6
28545593 2017
12
A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. 6
27626616 2016
13
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. 6
26293662 2015
14
Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. 6
24367057 2014
15
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. 6
24417746 2014
16
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. 6
23561846 2013
17
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. 6
23561847 2013
18
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 6
22683086 2012
19
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. 6
22228761 2012
20
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. 6
21629298 2011
21
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. 6
21739589 2011
22
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. 6
21643797 2011
23
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. 6
20802478 2010
24
Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings. 6
17351347 2007
25
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. 6
1724113 1991
26
Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy. 61
32474245 2020
27
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases. 61
32466763 2020
28
Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations. 61
31698102 2020
29
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder. 61
31805394 2020
30
Mabry Syndrome in a Child of South Asian Descent. 61
30173695 2018
31
Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders. 61
30023290 2018
32
Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency. 61
29444765 2018
33
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome. 61
28817240 2017
34
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. 61
28337824 2017
35
Clinical and genetic analysis of two Chinese infants with Mabry syndrome. 61
27177984 2016
36
Mutations in PIGL in a patient with Mabry syndrome. 61
25706356 2015
37
[Inherited GPI deficiencies:a new disease with intellectual disability and epilepsy]. 61
25803904 2015
38
Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome. 61
26219719 2015
39
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. 61
23940540 2013

Variations for Hyperphosphatasia-Intellectual Disability Syndrome

ClinVar genetic disease variations for Hyperphosphatasia-Intellectual Disability Syndrome:

6 (show top 50) (show all 504)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIGV NM_017837.3(PIGV):c.1154A>C (p.His385Pro) SNV Pathogenic 1285 rs267606951 GRCh37: 1:27121679-27121679
GRCh38: 1:26795188-26795188
2 PIGV NM_017837.3(PIGV):c.766C>A (p.Gln256Lys) SNV Pathogenic 1286 rs267606952 GRCh37: 1:27121291-27121291
GRCh38: 1:26794800-26794800
3 PIGV NM_017837.3(PIGV):c.1022C>T (p.Ala341Val) SNV Pathogenic 1287 rs139073416 GRCh37: 1:27121547-27121547
GRCh38: 1:26795056-26795056
4 PIGV NM_017837.3(PIGV):c.494C>A (p.Ala165Glu) SNV Pathogenic 135662 rs376328153 GRCh37: 1:27121019-27121019
GRCh38: 1:26794528-26794528
5 PGAP2 NM_014489.4(PGAP2):c.713G>C (p.Arg238Pro) SNV Pathogenic 50503 rs774843232 GRCh37: 11:3846254-3846254
GRCh38: 11:3825024-3825024
6 PGAP2 NM_014489.4(PGAP2):c.563T>C (p.Leu188Ser) SNV Pathogenic 50504 rs879255233 GRCh37: 11:3845327-3845327
GRCh38: 11:3824097-3824097
7 PGAP2 NM_014489.4(PGAP2):c.46C>T (p.Arg16Trp) SNV Pathogenic 50505 rs773359554 GRCh37: 11:3832535-3832535
GRCh38: 11:3811305-3811305
8 PGAP2 NM_014489.4(PGAP2):c.491C>T (p.Thr164Ile) SNV Pathogenic 50506 rs587776970 GRCh37: 11:3845255-3845255
GRCh38: 11:3824025-3824025
9 PGAP2 NM_014489.4(PGAP2):c.2T>G (p.Met1Arg) SNV Pathogenic 694699 rs1590215915 GRCh37: 11:3832491-3832491
GRCh38: 11:3811261-3811261
10 PGAP2 NM_014489.4(PGAP2):c.391G>T (p.Glu131Ter) SNV Pathogenic 827783 rs1590414630 GRCh37: 11:3845155-3845155
GRCh38: 11:3823925-3823925
11 PIGO NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) SNV Pathogenic 35599 rs142164373 GRCh37: 9:35090263-35090263
GRCh38: 9:35090266-35090266
12 PIGW NM_001346754.2(PIGW):c.211A>C (p.Thr71Pro) SNV Pathogenic 156156 rs587777733 GRCh37: 17:34893161-34893161
GRCh38: 17:36537312-36537312
13 PIGO NM_032634.4(PIGO):c.1959G>A (p.Trp653Ter) SNV Pathogenic 565791 rs1391418639 GRCh37: 9:35091925-35091925
GRCh38: 9:35091928-35091928
14 PIGO NM_032634.4(PIGO):c.204dup (p.Arg69fs) Duplication Pathogenic 574401 rs751086453 GRCh37: 9:35095358-35095359
GRCh38: 9:35095361-35095362
15 PIGO NM_032634.4(PIGO):c.1269_1270TG[1] (p.Val424fs) Microsatellite Pathogenic 577203 rs1563998317 GRCh37: 9:35092612-35092613
GRCh38: 9:35092615-35092616
16 PIGO NM_032634.4(PIGO):c.2007G>A (p.Trp669Ter) SNV Pathogenic 581964 rs1563996824 GRCh37: 9:35091877-35091877
GRCh38: 9:35091880-35091880
17 PIGO NM_032634.4(PIGO):c.91dup (p.Thr31fs) Duplication Pathogenic 645706 rs1587178357 GRCh37: 9:35095471-35095472
GRCh38: 9:35095474-35095475
18 PIGO NM_032634.4(PIGO):c.511G>T (p.Gly171Ter) SNV Pathogenic 647724 rs1247927038 GRCh37: 9:35095052-35095052
GRCh38: 9:35095055-35095055
19 PIGO NM_032634.4(PIGO):c.438del (p.Phe146fs) Deletion Pathogenic 656785 rs1587176440 GRCh37: 9:35095125-35095125
GRCh38: 9:35095128-35095128
20 PIGO NM_032634.4(PIGO):c.196C>T (p.Arg66Ter) SNV Pathogenic 651005 rs763992668 GRCh37: 9:35095367-35095367
GRCh38: 9:35095370-35095370
21 PIGO NM_032634.4(PIGO):c.1549del (p.Ala517fs) Deletion Pathogenic 655474 rs1587166550 GRCh37: 9:35092335-35092335
GRCh38: 9:35092338-35092338
22 PIGO NM_032634.4(PIGO):c.2397A>C (p.Gln799His) SNV Pathogenic 694694 rs1587162510 GRCh37: 9:35091487-35091487
GRCh38: 9:35091490-35091490
23 PIGO NM_032634.4(PIGO):c.1187del (p.Leu396fs) Deletion Pathogenic 836206 GRCh37: 9:35092697-35092697
GRCh38: 9:35092700-35092700
24 PIGO NM_032634.4(PIGO):c.590del (p.Pro197fs) Deletion Pathogenic 851969 GRCh37: 9:35094278-35094278
GRCh38: 9:35094281-35094281
25 PIGO NM_032634.4(PIGO):c.2191del (p.Arg731fs) Deletion Pathogenic 852858 GRCh37: 9:35091693-35091693
GRCh38: 9:35091696-35091696
26 PIGO NM_032634.4(PIGO):c.2921del (p.Gln974fs) Deletion Pathogenic 953680 GRCh37: 9:35090211-35090211
GRCh38: 9:35090214-35090214
27 PIGO NM_032634.4(PIGO):c.135dup (p.Gly46fs) Duplication Pathogenic 954297 GRCh37: 9:35095427-35095428
GRCh38: 9:35095430-35095431
28 PIGO NM_032634.4(PIGO):c.178del (p.Ala60fs) Deletion Pathogenic 963282 GRCh37: 9:35095385-35095385
GRCh38: 9:35095388-35095388
29 PGAP2 NM_014489.4(PGAP2):c.479A>G (p.Tyr160Cys) SNV Pathogenic 50502 rs879255232 GRCh37: 11:3845243-3845243
GRCh38: 11:3824013-3824013
30 PIGO NM_032634.4(PIGO):c.163C>T (p.Gln55Ter) SNV Pathogenic 984635 GRCh37: 9:35095400-35095400
GRCh38: 9:35095403-35095403
31 PIGO NM_032634.4(PIGO):c.2725C>T (p.Gln909Ter) SNV Pathogenic 952288 GRCh37: 9:35090592-35090592
GRCh38: 9:35090595-35090595
32 overlap with 39 genes NC_000009.11:g.(?_34458984)_(35809462_?)del Deletion Pathogenic 583851 GRCh37: 9:34458984-35809462
GRCh38:
33 PIGW NM_001346754.2(PIGW):c.460A>G (p.Arg154Gly) SNV Pathogenic 495299 rs1256773607 GRCh37: 17:34893410-34893410
GRCh38: 17:36537561-36537561
34 PIGW NM_001346754.2(PIGW):c.499A>G (p.Met167Val) SNV Pathogenic 156157 rs200024253 GRCh37: 17:34893449-34893449
GRCh38: 17:36537600-36537600
35 PIGV NM_017837.3(PIGV):c.1022C>A (p.Ala341Glu) SNV Pathogenic 1284 rs139073416 GRCh37: 1:27121547-27121547
GRCh38: 1:26795056-26795056
36 PIGV NM_017837.3(PIGV):c.467G>A (p.Cys156Tyr) SNV Pathogenic 30821 rs387907023 GRCh37: 1:27120992-27120992
GRCh38: 1:26794501-26794501
37 PIGO NM_032634.3(PIGO):c.2361dupC Duplication Pathogenic 35600 rs770591449 GRCh37: 9:35091522-35091523
GRCh38: 9:35091525-35091526
38 PIGO NM_032634.4(PIGO):c.1810dup (p.Arg604fs) Duplication Pathogenic 286126 rs774508288 GRCh37: 9:35092073-35092074
GRCh38: 9:35092076-35092077
39 PIGO NM_032634.4(PIGO):c.2404C>T (p.Arg802Ter) SNV Pathogenic 620478 rs1199247059 GRCh37: 9:35091480-35091480
GRCh38: 9:35091483-35091483
40 PGAP3 NM_033419.5(PGAP3):c.275G>A (p.Gly92Asp) SNV Pathogenic 125437 rs587777251 GRCh37: 17:37842179-37842179
GRCh38: 17:39685926-39685926
41 PGAP3 NM_033419.5(PGAP3):c.914A>G (p.Asp305Gly) SNV Pathogenic 125439 rs587777252 GRCh37: 17:37829105-37829105
GRCh38: 17:39672852-39672852
42 PGAP3 NM_033419.5(PGAP3):c.314C>G (p.Pro105Arg) SNV Pathogenic 125440 rs371549948 GRCh37: 17:37840968-37840968
GRCh38: 17:39684715-39684715
43 PGAP3 NM_033419.5(PGAP3):c.439dup (p.Leu147fs) Duplication Pathogenic 224646 rs869312815 GRCh37: 17:37830925-37830926
GRCh38: 17:39674672-39674673
44 PGAP3 NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) SNV Pathogenic 224643 rs202146344 GRCh37: 17:37840962-37840962
GRCh38: 17:39684709-39684709
45 PGAP3 NM_033419.5(PGAP3):c.861G>T (p.Trp287Cys) SNV Pathogenic 224641 rs869312813 GRCh37: 17:37829342-37829342
GRCh38: 17:39673089-39673089
46 PGAP3 NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly) SNV Pathogenic 224644 rs869312814 GRCh37: 17:37829358-37829358
GRCh38: 17:39673105-39673105
47 PGAP3 NM_033419.5(PGAP3):c.511T>C (p.Cys171Arg) SNV Pathogenic 224647 rs869312816 GRCh37: 17:37830292-37830292
GRCh38: 17:39674039-39674039
48 PGAP3 NM_033419.5(PGAP3):c.842T>C (p.Leu281Pro) SNV Pathogenic 224648 rs869312817 GRCh37: 17:37829361-37829361
GRCh38: 17:39673108-39673108
49 PGAP3 NM_033419.5(PGAP3):c.280del (p.Trp94fs) Deletion Pathogenic 496676 rs1555610292 GRCh37: 17:37841002-37841002
GRCh38: 17:39684749-39684749
50 PGAP3 NM_033419.5(PGAP3):c.432+1G>A SNV Pathogenic 522978 rs1555610241 GRCh37: 17:37840849-37840849
GRCh38: 17:39684596-39684596

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
12.98 PIGW PIGV PIGO PIGL PIGG
2
Show member pathways
11.35 PIGW PIGV PIGO PIGL PIGG
3
Show member pathways
10.71 PIGY PIGW PIGV PIGO PIGL PIGG

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 9.92 PIGY PIGW PIGV PIGO PIGL PIGG
2 integral component of membrane GO:0016021 9.86 PIGY PIGW PIGV PIGO PIGL PIGG
3 endoplasmic reticulum GO:0005783 9.56 PIGY PIGW PIGV PIGO PIGL PIGG
4 endoplasmic reticulum membrane GO:0005789 9.28 PYURF PIGY PIGW PIGV PIGO PIGL
5 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.16 PYURF PIGY

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 9.35 PIGY PIGW PIGV PIGL PIGG
2 GPI anchor biosynthetic process GO:0006506 9.28 PYURF PIGY PIGW PIGV PIGO PIGL
3 GPI anchor metabolic process GO:0006505 9.16 PIGW PGAP3

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

# Name GO ID Score Top Affiliating Genes
1 mannose-ethanolamine phosphotransferase activity GO:0051377 8.62 PIGO PIGG

Sources for Hyperphosphatasia-Intellectual Disability Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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