HPMRS1
MCID: HYP441
MIFTS: 31

Hyperphosphatasia with Mental Retardation Syndrome 1 (HPMRS1)

Categories: 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 58 76 30 13 6
Mabry Syndrome 58 26 76
Glycosylphosphatidylinositol Biosynthesis Defect 2 58 76
Hyperphosphatasia with Mental Retardation Syndrome 26 38
Hpmrs1 58 76
Gpibd2 58 76
Hyperphosphatasia, with Mental Retardation Syndrome, Type 1 ) 41
Glycosylphosphatidylinositol Biosynthesis Defect 2; Gpibd2 58
Hyperphosphatasia with Seizures and Neurologic Deficit 26
Hyperphosphatasia with Mental Retardation 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hyperphosphatasia with mental retardation syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

OMIM : 58 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)

MalaCards based summary : Hyperphosphatasia with Mental Retardation Syndrome 1, also known as mabry syndrome, is related to glycosylphosphatidylinositol biosynthesis defect 11 and hyperphosphatasia-intellectual disability syndrome, 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 is Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Affiliated tissues include bone and heart, and related phenotypes are absent speech and small nail

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been... more...

Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 1

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:

33 (show all 46)
# Description HPO Frequency HPO Source Accession
1 absent speech 33 hallmark (90%) HP:0001344
2 small nail 33 frequent (33%) HP:0001792
3 upslanted palpebral fissure 33 frequent (33%) HP:0000582
4 thin upper lip vermilion 33 frequent (33%) HP:0000219
5 long palpebral fissure 33 frequent (33%) HP:0000637
6 posteriorly rotated ears 33 frequent (33%) HP:0000358
7 abnormally large globe 33 frequent (33%) HP:0001090
8 cleft palate 33 occasional (7.5%) HP:0000175
9 feeding difficulties 33 occasional (7.5%) HP:0011968
10 short toe 33 occasional (7.5%) HP:0001831
11 hypertelorism 33 very rare (1%) HP:0000316
12 hydrocephalus 33 very rare (1%) HP:0000238
13 intellectual disability 33 very rare (1%) HP:0001249
14 seizures 33 very rare (1%) HP:0001250
15 muscular hypotonia 33 very rare (1%) HP:0001252
16 constipation 33 very rare (1%) HP:0002019
17 wide nasal bridge 33 very rare (1%) HP:0000431
18 sensorineural hearing impairment 33 very rare (1%) HP:0000407
19 aganglionic megacolon 33 very rare (1%) HP:0002251
20 downturned corners of mouth 33 very rare (1%) HP:0002714
21 broad nasal tip 33 very rare (1%) HP:0000455
22 short distal phalanx of finger 33 very rare (1%) HP:0009882
23 anteriorly placed anus 33 very rare (1%) HP:0001545
24 cleft upper lip 33 very rare (1%) HP:0000204
25 elevated alkaline phosphatase 33 very rare (1%) HP:0003155
26 abnormality of the rectum 33 very rare (1%) HP:0002034
27 delayed ossification of carpal bones 33 very rare (1%) HP:0001216
28 psychomotor retardation 33 very rare (1%) HP:0025356
29 malar flattening 33 HP:0000272
30 mandibular prognathia 33 HP:0000303
31 hearing impairment 33 HP:0000365
32 short nose 33 HP:0003196
33 intellectual disability, severe 33 HP:0010864
34 cerebral cortical atrophy 33 HP:0002120
35 short philtrum 33 HP:0000322
36 midface retrusion 33 HP:0011800
37 highly arched eyebrow 33 HP:0002553
38 tented upper lip vermilion 33 HP:0010804
39 plagiocephaly 33 HP:0001357
40 tapered finger 33 HP:0001182
41 generalized hypotonia 33 HP:0001290
42 abnormal renal morphology 33 HP:0012210
43 athetosis 33 HP:0002305
44 hyperconvex nail 33 HP:0001795
45 abnormal heart morphology 33 HP:0001627
46 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures
arched eyebrows
long palpebral fissures

Head And Neck Ears:
hearing impairment

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)

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 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

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 30 PIGV

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 1

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

42
Bone, Heart

Publications for Hyperphosphatasia with Mental Retardation Syndrome 1

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 1:

(show all 11)
# Title Authors Year
1
Mabry Syndrome in a Child of South Asian Descent. ( 30173695 )
2018
2
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome. ( 28817240 )
2017
3
Clinical and genetic analysis of two Chinese infants with Mabry syndrome. ( 27177984 )
2016
4
Mutations in PIGL in a patient with Mabry syndrome. ( 25706356 )
2015
5
Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome. ( 26219719 )
2015
6
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). ( 22315194 )
2012
7
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. ( 21739589 )
2011
8
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. ( 20578257 )
2010
9
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. ( 20802478 )
2010
10
Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings. ( 17351347 )
2007
11
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. ( 1724113 )
1991

Variations for Hyperphosphatasia with Mental Retardation Syndrome 1

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

76
# 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

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

6 (show all 26)
# 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.1154A> C (p.His385Pro) single nucleotide variant Pathogenic rs267606951 GRCh37 Chromosome 1, 27121679: 27121679
4 PIGV NM_017837.3(PIGV): c.1154A> C (p.His385Pro) single nucleotide variant Pathogenic rs267606951 GRCh38 Chromosome 1, 26795188: 26795188
5 PIGV NM_017837.3(PIGV): c.766C> A (p.Gln256Lys) single nucleotide variant Pathogenic rs267606952 GRCh37 Chromosome 1, 27121291: 27121291
6 PIGV NM_017837.3(PIGV): c.766C> A (p.Gln256Lys) single nucleotide variant Pathogenic rs267606952 GRCh38 Chromosome 1, 26794800: 26794800
7 PIGV NM_017837.3(PIGV): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs139073416 GRCh37 Chromosome 1, 27121547: 27121547
8 PIGV NM_017837.3(PIGV): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs139073416 GRCh38 Chromosome 1, 26795056: 26795056
9 PIGV NM_017837.3(PIGV): c.467G> A (p.Cys156Tyr) single nucleotide variant Likely pathogenic rs387907023 GRCh37 Chromosome 1, 27120992: 27120992
10 PIGV NM_017837.3(PIGV): c.467G> A (p.Cys156Tyr) single nucleotide variant Likely pathogenic rs387907023 GRCh38 Chromosome 1, 26794501: 26794501
11 PIGV NM_017837.3(PIGV): c.494C> A (p.Ala165Glu) single nucleotide variant Pathogenic rs376328153 GRCh37 Chromosome 1, 27121019: 27121019
12 PIGV NM_017837.3(PIGV): c.494C> A (p.Ala165Glu) single nucleotide variant Pathogenic rs376328153 GRCh38 Chromosome 1, 26794528: 26794528
13 PIGV NM_017837.3(PIGV): c.134G> A (p.Arg45His) single nucleotide variant Uncertain significance rs148135928 GRCh37 Chromosome 1, 27120659: 27120659
14 PIGV NM_017837.3(PIGV): c.134G> A (p.Arg45His) single nucleotide variant Uncertain significance rs148135928 GRCh38 Chromosome 1, 26794168: 26794168
15 PIGV NM_017837.3(PIGV): c.348_349delGAinsAG (p.Ile117Val) indel Uncertain significance rs886044116 GRCh37 Chromosome 1, 27120873: 27120874
16 PIGV NM_017837.3(PIGV): c.348_349delGAinsAG (p.Ile117Val) indel Uncertain significance rs886044116 GRCh38 Chromosome 1, 26794382: 26794383
17 PIGV NM_017837.3(PIGV): c.1369C> T (p.Leu457Phe) single nucleotide variant Uncertain significance rs143676075 GRCh37 Chromosome 1, 27124222: 27124222
18 PIGV NM_017837.3(PIGV): c.1369C> T (p.Leu457Phe) single nucleotide variant Uncertain significance rs143676075 GRCh38 Chromosome 1, 26797731: 26797731
19 PIGV NM_017837.3(PIGV): c.115G> A (p.Glu39Lys) single nucleotide variant Uncertain significance rs369275802 GRCh37 Chromosome 1, 27120640: 27120640
20 PIGV NM_017837.3(PIGV): c.115G> A (p.Glu39Lys) single nucleotide variant Uncertain significance rs369275802 GRCh38 Chromosome 1, 26794149: 26794149
21 PIGV NM_017837.3(PIGV): c.55C> T (p.Arg19Cys) single nucleotide variant Likely pathogenic rs759988046 GRCh37 Chromosome 1, 27117361: 27117361
22 PIGV NM_017837.3(PIGV): c.55C> T (p.Arg19Cys) single nucleotide variant Likely pathogenic rs759988046 GRCh38 Chromosome 1, 26790870: 26790870
23 PIGB NM_004855.4(PIGB): c.1220A> G (p.His407Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 55642993: 55642993
24 PIGB NM_004855.4(PIGB): c.1220A> G (p.His407Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 55350795: 55350795
25 PIGV NM_017837.3(PIGV): c.728T> C (p.Leu243Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 27121253: 27121253
26 PIGV NM_017837.3(PIGV): c.728T> C (p.Leu243Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 26794762: 26794762

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:

38
# Name Kegg Source Accession
1 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis hsa00563

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 1

Sources for Hyperphosphatasia with Mental Retardation Syndrome 1

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