HPMRS1
MCID: HYP441
MIFTS: 42

Hyperphosphatasia with Mental Retardation Syndrome 1 (HPMRS1)

Categories: Gastrointestinal diseases, Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 1

MalaCards integrated aliases for Hyperphosphatasia with Mental Retardation Syndrome 1:

Name: Hyperphosphatasia with Mental Retardation Syndrome 1 57 72 29 13 6
Mabry Syndrome 57 43 72
Glycosylphosphatidylinositol Biosynthesis Defect 2 57 72
Hyperphosphatasia with Mental Retardation Syndrome 43 36
Hpmrs1 57 72
Gpibd2 57 72
Hyperphosphatasia, with Mental Retardation Syndrome, Type 1 39
Glycosylphosphatidylinositol Biosynthesis Defect 2; Gpibd2 57
Hyperphosphatasia with Seizures and Neurologic Deficit 43
Hyperphosphatasia with Mental Retardation 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
hyperphosphatasia with mental retardation syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

MedlinePlus Genetics : 43 Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms.People with Mabry syndrome have intellectual disability that is often moderate to severe. They typically have little to no speech development and are delayed in the development of motor skills (such as sitting, crawling, and walking). Many affected individuals have low muscle tone (hypotonia) and develop recurrent seizures (epilepsy) in early childhood. Seizures are usually the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness.Individuals with Mabry syndrome have distinctive facial features that include wide-set eyes (hypertelorism), long openings of the eyelids (long palpebral fissures), a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip. These facial features usually become less pronounced over time.Hyperphosphatasia begins within the first year of life in people with Mabry syndrome. There are many different types of alkaline phosphatase found in tissues; the type that is increased in Mabry syndrome is called the tissue non-specific type and is found throughout the body. In affected individuals, alkaline phosphatase levels in the blood are usually increased by one to two times the normal amount, but can be up to 20 times higher than normal. The elevated enzyme levels remain relatively stable over a person's lifetime. Hyperphosphatasia appears to cause no negative health effects, but this finding can help health professionals diagnose Mabry syndrome.Another common feature of Mabry syndrome is shortened bones at the ends of fingers (brachytelephalangy), which can be seen on x-ray imaging. Underdeveloped fingernails (nail hypoplasia) may also occur. Sometimes, individuals with Mabry syndrome have abnormalities of the digestive system, including narrowing or blockage of the anus (anal stenosis or anal atresia) or Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Rarely, affected individuals experience hearing loss.The signs and symptoms of Mabry syndrome vary among affected individuals. Those who are least severely affected have only intellectual disability and hyperphosphatasia, without distinctive facial features or the other health problems listed above.

MalaCards based summary : Hyperphosphatasia with Mental Retardation Syndrome 1, also known as mabry syndrome, is related to hyperphosphatasia-intellectual disability syndrome and glycosylphosphatidylinositol biosynthesis defect 11, and has symptoms including seizures An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 1 is PIGV (Phosphatidylinositol Glycan Anchor Biosynthesis Class V), and among its related pathways/superpathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. Affiliated tissues include heart and bone, and related phenotypes are upslanted palpebral fissure and thin upper lip vermilion

OMIM® : 57 Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (610293). (239300) (Updated 20-May-2021)

KEGG : 36 Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disorder comprising intellectual disability and elevated levels of serum alkaline phosphatase, often accompanied by seizures, facial dysmorphism, and various anomalies such as brachytelephalangy. Mutation in different genes result in phenotypic variation.

UniProtKB/Swiss-Prot : 72 Hyperphosphatasia with mental retardation syndrome 1: A severe syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges.

Wikipedia : 73 Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been... more...

Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 1

Diseases in the Hyperphosphatasia with Mental Retardation Syndrome 1 family:

Hyperphosphatasia with Mental Retardation Syndrome 3 Hyperphosphatasia with Mental Retardation Syndrome 2
Hyperphosphatasia with Mental Retardation Syndrome 4 Hyperphosphatasia with Mental Retardation Syndrome 6

Diseases related to Hyperphosphatasia with Mental Retardation Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 hyperphosphatasia-intellectual disability syndrome 30.7 PIGV PIGO PIGG
2 glycosylphosphatidylinositol biosynthesis defect 11 11.8
3 hyperphosphatasia with mental retardation syndrome 3 10.9
4 hyperphosphatasia with mental retardation syndrome 2 10.9
5 hyperphosphatasia with mental retardation syndrome 4 10.9
6 hyperphosphatasia with mental retardation syndrome 6 10.9
7 cleft palate, isolated 10.3
8 megalocornea 10.2
9 west syndrome 10.2
10 microcephaly 10.2
11 learning disability 10.2
12 congenital disorders of n-linked glycosylation and multiple pathway 10.2
13 dysphagia 10.2
14 hypertelorism 10.1
15 alacrima, achalasia, and mental retardation syndrome 10.1
16 autosomal recessive disease 10.1
17 seizure disorder 10.1
18 coffin-siris syndrome 1 9.9
19 diaphragmatic hernia, congenital 9.9
20 hirschsprung disease 1 9.9
21 anus, imperforate 9.9
22 fryns syndrome 9.9
23 3-methylglutaconic aciduria, type iii 9.9
24 abnormal hair, joint laxity, and developmental delay 9.9
25 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 9.9
26 developmental and epileptic encephalopathy 9 9.9
27 inguinal hernia 9.9
28 hydronephrosis 9.9
29 heart septal defect 9.9
30 epilepsy 9.9
31 atrial heart septal defect 9.9
32 constipation 9.9
33 polyhydramnios 9.9
34 hypotonia 9.9
35 coloboma of macula 9.6 PIGV PIGO
36 multiple congenital anomalies-hypotonia-seizures syndrome 1 9.4 PIGV PIGO PIGG
37 multiple congenital anomalies-hypotonia-seizures syndrome 9.4 PIGV PIGO PIGG
38 multiple congenital anomalies-hypotonia-seizures syndrome 2 9.3 PIGV PIGO PIGG
39 autosomal recessive non-syndromic intellectual disability 9.2 PIGV PIGO PIGG
40 anterior segment dysgenesis 4 9.1 PIGV PIGO PIGG PIGB

Graphical network of the top 20 diseases related to Hyperphosphatasia with Mental Retardation Syndrome 1:



Diseases related to Hyperphosphatasia with Mental Retardation Syndrome 1

Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 1

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 1:

31 (show all 46)
# Description HPO Frequency HPO Source Accession
1 upslanted palpebral fissure 31 frequent (33%) HP:0000582
2 thin upper lip vermilion 31 frequent (33%) HP:0000219
3 posteriorly rotated ears 31 frequent (33%) HP:0000358
4 small nail 31 frequent (33%) HP:0001792
5 long palpebral fissure 31 frequent (33%) HP:0000637
6 abnormally large globe 31 frequent (33%) HP:0001090
7 short toe 31 occasional (7.5%) HP:0001831
8 feeding difficulties 31 occasional (7.5%) HP:0011968
9 intellectual disability 31 very rare (1%) HP:0001249
10 constipation 31 very rare (1%) HP:0002019
11 hydrocephalus 31 very rare (1%) HP:0000238
12 hypertelorism 31 very rare (1%) HP:0000316
13 wide nasal bridge 31 very rare (1%) HP:0000431
14 sensorineural hearing impairment 31 very rare (1%) HP:0000407
15 absent speech 31 very rare (1%) HP:0001344
16 cleft palate 31 very rare (1%) HP:0000175
17 aganglionic megacolon 31 very rare (1%) HP:0002251
18 downturned corners of mouth 31 very rare (1%) HP:0002714
19 cleft upper lip 31 very rare (1%) HP:0000204
20 short distal phalanx of finger 31 very rare (1%) HP:0009882
21 anteriorly placed anus 31 very rare (1%) HP:0001545
22 psychomotor retardation 31 very rare (1%) HP:0025356
23 broad nasal tip 31 very rare (1%) HP:0000455
24 elevated alkaline phosphatase 31 very rare (1%) HP:0003155
25 delayed ossification of carpal bones 31 very rare (1%) HP:0001216
26 seizure 31 very rare (1%) HP:0001250
27 hypotonia 31 very rare (1%) HP:0001252
28 abnormal rectum morphology 31 very rare (1%) HP:0002034
29 hearing impairment 31 HP:0000365
30 mandibular prognathia 31 HP:0000303
31 short nose 31 HP:0003196
32 intellectual disability, severe 31 HP:0010864
33 cerebral cortical atrophy 31 HP:0002120
34 highly arched eyebrow 31 HP:0002553
35 malar flattening 31 HP:0000272
36 short philtrum 31 HP:0000322
37 midface retrusion 31 HP:0011800
38 tented upper lip vermilion 31 HP:0010804
39 tapered finger 31 HP:0001182
40 plagiocephaly 31 HP:0001357
41 abnormal heart morphology 31 HP:0001627
42 athetosis 31 HP:0002305
43 generalized hypotonia 31 HP:0001290
44 abnormal renal morphology 31 HP:0012210
45 hyperconvex nail 31 HP:0001795
46 delayed myelination 31 HP:0012448

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, severe
athetoid and dystonic hand movements (in some patients)
moderate cortical atrophy (in some patients)
more
Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures
arched eyebrows
long palpebral fissures

Head And Neck Mouth:
short philtrum
downturned corners of the mouth
cleft palate (rare)
tented mouth

Head And Neck Face:
midface hypoplasia
prognathism

Cardiovascular Heart:
cardiac defects (in some patients)
ventral septal defect (rare)

Genitourinary Kidneys:
renal malformations (in some patients)

Skin Nails Hair Nails:
hypoplastic nails (in some patients)
curved nails (in some patients)

Head And Neck Ears:
hearing impairment

Head And Neck Nose:
short nose
broad nasal tip
broad nasal bridge

Skeletal Skull:
plagiocephaly

Skeletal Hands:
tapered fingers
hypoplastic terminal phalanges (brachytelephalangy)

Abdomen Gastrointestinal:
feeding problems necessitating tube feeding (in some patients)
anteriorly displaced anus (in some patients)
anovestibular fistula (in some patients)
anorectal anomalies (in some patients)
megacolon (in some patients)

Skeletal Feet:
hypoplastic toes (in some patients)
bilateral adducted forefoot (rare)

Laboratory Abnormalities:
elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal)
hyperphosphatasia

Clinical features from OMIM®:

239300 (Updated 20-May-2021)

UMLS symptoms related to Hyperphosphatasia with Mental Retardation Syndrome 1:


seizures

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 1

Search Clinical Trials , NIH Clinical Center for Hyperphosphatasia with Mental Retardation Syndrome 1

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 1

Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 1:

# Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 1 29 PIGV

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 1

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

40
Heart, Bone

Publications for Hyperphosphatasia with Mental Retardation Syndrome 1

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 1:

(show all 29)
# Title Authors PMID Year
1
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). 61 57 6
22315194 2012
2
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. 6 57 61
20578257 2010
3
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. 6 57
22228761 2012
4
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. 57 6
21739589 2011
5
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. 57 6
20802478 2010
6
Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings. 57 6
17351347 2007
7
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. 57 6
1724113 1991
8
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. 61 6
24129430 2014
9
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. 57
29310717 2018
10
Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome. 57
20080219 2010
11
Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder? 57
16638507 2006
12
Hyperphosphatasia with mental retardation. 57
3346785 1988
13
Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits. 57
5465362 1970
14
Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy. 61
32474245 2020
15
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases. 61
32466763 2020
16
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
17
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
18
Mabry Syndrome in a Child of South Asian Descent. 61
30173695 2018
19
Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders. 61
30023290 2018
20
Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency. 61
29444765 2018
21
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome. 61
28817240 2017
22
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. 61
28337824 2017
23
Clinical and genetic analysis of two Chinese infants with Mabry syndrome. 61
27177984 2016
24
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. 61
27120253 2016
25
Mutations in PIGL in a patient with Mabry syndrome. 61
25706356 2015
26
[Inherited GPI deficiencies:a new disease with intellectual disability and epilepsy]. 61
25803904 2015
27
Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome. 61
26219719 2015
28
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. 61
24439110 2014
29
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. 61
23940540 2013

Variations for Hyperphosphatasia with Mental Retardation Syndrome 1

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

6 (show top 50) (show all 68)
# 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 PIGO NM_032634.4(PIGO):c.2397A>C (p.Gln799His) SNV Pathogenic 694694 rs1587162510 GRCh37: 9:35091487-35091487
GRCh38: 9:35091490-35091490
6 PIGV NM_017837.3(PIGV):c.467G>A (p.Cys156Tyr) SNV Pathogenic 30821 rs387907023 GRCh37: 1:27120992-27120992
GRCh38: 1:26794501-26794501
7 PIGG NM_001127178.3(PIGG):c.2005C>T (p.Arg669Cys) SNV Pathogenic 225638 rs372392424 GRCh37: 4:517638-517638
GRCh38: 4:523849-523849
8 PIGV NM_017837.3(PIGV):c.1022C>A (p.Ala341Glu) SNV Pathogenic 1284 rs139073416 GRCh37: 1:27121547-27121547
GRCh38: 1:26795056-26795056
9 PIGV NM_017837.4(PIGV):c.607C>T (p.Arg203Cys) SNV Likely pathogenic 871134 GRCh37: 1:27121132-27121132
GRCh38: 1:26794641-26794641
10 PIGO NM_032634.4(PIGO):c.1810dup (p.Arg604fs) Duplication Likely pathogenic 286126 rs774508288 GRCh37: 9:35092073-35092074
GRCh38: 9:35092076-35092077
11 PIGV NM_017837.3(PIGV):c.1022C>A (p.Ala341Glu) SNV Likely pathogenic 1284 rs139073416 GRCh37: 1:27121547-27121547
GRCh38: 1:26795056-26795056
12 PIGO NM_032634.4(PIGO):c.2736dup (p.Pro913fs) Duplication Likely pathogenic 666981 rs1587159769 GRCh37: 9:35090580-35090581
GRCh38: 9:35090583-35090584
13 PIGV NM_017837.3(PIGV):c.55C>T (p.Arg19Cys) SNV Likely pathogenic 547943 rs759988046 GRCh37: 1:27117361-27117361
GRCh38: 1:26790870-26790870
14 PIGV NM_017837.3(PIGV):c.728T>C (p.Leu243Pro) SNV Uncertain significance 625994 rs771841963 GRCh37: 1:27121253-27121253
GRCh38: 1:26794762-26794762
15 PIGV NM_017837.3(PIGV):c.*385A>T SNV Uncertain significance 297129 rs754912311 GRCh37: 1:27124720-27124720
GRCh38: 1:26798229-26798229
16 PIGV NM_017837.3(PIGV):c.-57-6G>A SNV Uncertain significance 297113 rs931609061 GRCh37: 1:27117244-27117244
GRCh38: 1:26790753-26790753
17 PIGV NM_017837.3(PIGV):c.*110T>C SNV Uncertain significance 297124 rs1057515439 GRCh37: 1:27124445-27124445
GRCh38: 1:26797954-26797954
18 PIGV NM_017837.3(PIGV):c.*441C>T SNV Uncertain significance 297130 rs777566769 GRCh37: 1:27124776-27124776
GRCh38: 1:26798285-26798285
19 PIGV NM_017837.3(PIGV):c.531A>T (p.Thr177=) SNV Uncertain significance 297117 rs1057515474 GRCh37: 1:27121056-27121056
GRCh38: 1:26794565-26794565
20 PIGV NM_017837.3(PIGV):c.1008A>G (p.Ile336Met) SNV Uncertain significance 297120 rs1057515437 GRCh37: 1:27121533-27121533
GRCh38: 1:26795042-26795042
21 PIGV NM_017837.3(PIGV):c.1464C>T (p.Asn488=) SNV Uncertain significance 297122 rs973687848 GRCh37: 1:27124317-27124317
GRCh38: 1:26797826-26797826
22 PIGV NM_017837.3(PIGV):c.*453A>T SNV Uncertain significance 297131 rs1057515441 GRCh37: 1:27124788-27124788
GRCh38: 1:26798297-26798297
23 PIGV NM_017837.3(PIGV):c.-323C>T SNV Uncertain significance 297112 rs771484813 GRCh37: 1:27114494-27114494
GRCh38: 1:26788003-26788003
24 PIGV NM_017837.3(PIGV):c.*367A>G SNV Uncertain significance 297128 rs1057515475 GRCh37: 1:27124702-27124702
GRCh38: 1:26798211-26798211
25 PIGV NM_017837.3(PIGV):c.1213T>A (p.Phe405Ile) SNV Uncertain significance 297121 rs1057515509 GRCh37: 1:27124066-27124066
GRCh38: 1:26797575-26797575
26 PIGV NM_017837.3(PIGV):c.1477A>G (p.Thr493Ala) SNV Uncertain significance 297123 rs1057515548 GRCh37: 1:27124330-27124330
GRCh38: 1:26797839-26797839
27 PIGV NM_017837.3(PIGV):c.*186G>T SNV Uncertain significance 297126 rs1057515440 GRCh37: 1:27124521-27124521
GRCh38: 1:26798030-26798030
28 PIGV NM_017837.4(PIGV):c.-68G>A SNV Uncertain significance 873720 GRCh37: 1:27114749-27114749
GRCh38: 1:26788258-26788258
29 PIGV NM_017837.4(PIGV):c.78+4A>G SNV Uncertain significance 873721 GRCh37: 1:27117388-27117388
GRCh38: 1:26790897-26790897
30 PIGV NM_017837.4(PIGV):c.223G>A (p.Ala75Thr) SNV Uncertain significance 873722 GRCh37: 1:27120748-27120748
GRCh38: 1:26794257-26794257
31 PIGV NM_017837.4(PIGV):c.265C>T (p.Pro89Ser) SNV Uncertain significance 873723 GRCh37: 1:27120790-27120790
GRCh38: 1:26794299-26794299
32 PIGV NM_017837.4(PIGV):c.312C>G (p.Pro104=) SNV Uncertain significance 873724 GRCh37: 1:27120837-27120837
GRCh38: 1:26794346-26794346
33 PIGV NM_017837.4(PIGV):c.*456C>T SNV Uncertain significance 873782 GRCh37: 1:27124791-27124791
GRCh38: 1:26798300-26798300
34 PIGV NM_017837.4(PIGV):c.*473T>G SNV Uncertain significance 873783 GRCh37: 1:27124808-27124808
GRCh38: 1:26798317-26798317
35 PIGV NM_017837.4(PIGV):c.732G>A (p.Ser244=) SNV Uncertain significance 874689 GRCh37: 1:27121257-27121257
GRCh38: 1:26794766-26794766
36 PIGV NM_017837.4(PIGV):c.968A>G (p.Lys323Arg) SNV Uncertain significance 875630 GRCh37: 1:27121493-27121493
GRCh38: 1:26795002-26795002
37 PIGV NM_017837.4(PIGV):c.980A>G (p.Asn327Ser) SNV Uncertain significance 875631 GRCh37: 1:27121505-27121505
GRCh38: 1:26795014-26795014
38 PIGV NM_017837.4(PIGV):c.-184G>T SNV Uncertain significance 876577 GRCh37: 1:27114633-27114633
GRCh38: 1:26788142-26788142
39 PIGV NM_017837.4(PIGV):c.-166G>A SNV Uncertain significance 876578 GRCh37: 1:27114651-27114651
GRCh38: 1:26788160-26788160
40 PIGV NM_017837.4(PIGV):c.1467C>G (p.Phe489Leu) SNV Uncertain significance 876634 GRCh37: 1:27124320-27124320
GRCh38: 1:26797829-26797829
41 PIGV NM_017837.4(PIGV):c.*114C>A SNV Uncertain significance 876635 GRCh37: 1:27124449-27124449
GRCh38: 1:26797958-26797958
42 PIGO NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp) SNV Uncertain significance 522896 rs140470862 GRCh37: 9:35091453-35091453
GRCh38: 9:35091456-35091456
43 PIGB NM_004855.5(PIGB):c.1220A>G (p.His407Arg) SNV Uncertain significance 561082 rs1566960044 GRCh37: 15:55642993-55642993
GRCh38: 15:55350795-55350795
44 PIGV NM_017837.3(PIGV):c.348_349delinsAG (p.Ile117Val) Indel Uncertain significance 289202 rs886044116 GRCh37: 1:27120873-27120874
GRCh38: 1:26794382-26794383
45 PIGV NM_017837.3(PIGV):c.*518dup Duplication Uncertain significance 297132 rs780242432 GRCh37: 1:27124852-27124853
GRCh38: 1:26798361-26798362
46 PIGV NM_017837.3(PIGV):c.808C>T (p.Arg270Cys) SNV Uncertain significance 297118 rs374158705 GRCh37: 1:27121333-27121333
GRCh38: 1:26794842-26794842
47 PIGV NM_017837.3(PIGV):c.115G>A (p.Glu39Lys) SNV Uncertain significance 449659 rs369275802 GRCh37: 1:27120640-27120640
GRCh38: 1:26794149-26794149
48 PIGV NM_017837.3(PIGV):c.1369C>T (p.Leu457Phe) SNV Uncertain significance 426552 rs143676075 GRCh37: 1:27124222-27124222
GRCh38: 1:26797731-26797731
49 PIGV NM_017837.4(PIGV):c.184G>A (p.Gly62Ser) SNV Uncertain significance 1029490 GRCh37: 1:27120709-27120709
GRCh38: 1:26794218-26794218
50 PIGV NM_017837.3(PIGV):c.872A>G (p.Asn291Ser) SNV Uncertain significance 378366 rs147396061 GRCh37: 1:27121397-27121397
GRCh38: 1:26794906-26794906

UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 1:

72
# Symbol AA change Variation ID SNP ID
1 PIGV p.Gln256Lys VAR_064190 rs267606952
2 PIGV p.Ala341Glu VAR_064191 rs139073416
3 PIGV p.Ala341Val VAR_064192 rs139073416
4 PIGV p.His385Pro VAR_064193 rs267606951

Expression for Hyperphosphatasia with Mental Retardation Syndrome 1

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

Pathways for Hyperphosphatasia with Mental Retardation Syndrome 1

Pathways related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis hsa00563

Pathways related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 PIGV PIGO PIGG PIGB
2
Show member pathways
11.25 PIGV PIGO PIGG PIGB
3
Show member pathways
10.54 PIGV PIGO PIGG PIGB

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 1

Cellular components related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.26 PIGV PIGO PIGG PIGB
2 endoplasmic reticulum membrane GO:0005789 8.92 PIGV PIGO PIGG PIGB

Biological processes related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mannosylation GO:0097502 9.16 PIGV PIGB
2 preassembly of GPI anchor in ER membrane GO:0016254 9.13 PIGV PIGG PIGB
3 GPI anchor biosynthetic process GO:0006506 8.92 PIGV PIGO PIGG PIGB

Molecular functions related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.56 PIGV PIGO PIGG PIGB
2 transferase activity, transferring glycosyl groups GO:0016757 9.32 PIGV PIGB
3 mannosyltransferase activity GO:0000030 9.16 PIGV PIGB
4 mannose-ethanolamine phosphotransferase activity GO:0051377 8.96 PIGO PIGG
5 glycolipid mannosyltransferase activity GO:0004376 8.62 PIGV PIGB

Sources for Hyperphosphatasia with Mental Retardation Syndrome 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....