MCID: HYP441
MIFTS: 31

Hyperphosphatasia with Mental Retardation Syndrome 1

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 53 71 28 13
Hyperphosphatasia with Mental Retardation Syndrome 24 36 28
Mabry Syndrome 53 24 71
Glycosylphosphatidylinositol Biosynthesis Defect 2 53 71
Hpmrs1 53 71
Gpibd2 53 71
Glycosylphosphatidylinositol Biosynthesis Defect 2; Gpibd2 53
Hyperphosphatasia with Seizures and Neurologic Deficit 24
Hyperphosphatasia with Mental Retardation 69

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

OMIM : 53 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 hyperphosphatasia with mental retardation syndrome, is related to hyperphosphatasia-intellectual disability syndrome and hyperphosphatasia with mental retardation syndrome 3, and has symptoms including constipation, seizures and malar flattening. 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.

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.

Wikipedia : 72 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

Symptoms via clinical synopsis from OMIM:

53
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 Mouth:
short philtrum
downturned corners of the mouth
cleft palate (rare)
tented mouth

Skeletal Skull:
plagiocephaly

Skeletal Hands:
tapered fingers
hypoplastic terminal phalanges (brachytelephalangy)

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

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

Head And Neck Eyes:
hypertelorism
long palpebral fissures
arched eyebrows

Head And Neck Nose:
broad nasal tip
broad nasal bridge

Head And Neck Face:
midface hypoplasia
prognathism

Cardiovascular Heart:
ventral septal defect (rare)

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

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 1:

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

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 28 PIGV
2 Hyperphosphatasia with Mental Retardation Syndrome 28

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 1

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

38
Bone

Publications for Hyperphosphatasia with Mental Retardation Syndrome 1

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 1:

# Title Authors Year
1
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. ( 27120253 )
2016
2
Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. ( 24367057 )
2013
3
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. ( 24129430 )
2013
4
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. ( 23561847 )
2013

Variations for Hyperphosphatasia with Mental Retardation Syndrome 1

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGV NM_017837.3(PIGV): c.467G> A (p.Cys156Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs387907023 GRCh37 Chromosome 1, 27120992: 27120992
2 PIGV NM_017837.3(PIGV): c.494C> A (p.Ala165Glu) single nucleotide variant Pathogenic rs376328153 GRCh37 Chromosome 1, 27121019: 27121019
3 PIGV NM_017837.3(PIGV): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs139073416 GRCh37 Chromosome 1, 27121547: 27121547
4 PIGV NM_017837.3(PIGV): c.1154A> C (p.His385Pro) single nucleotide variant Pathogenic rs267606951 GRCh37 Chromosome 1, 27121679: 27121679
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.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs139073416 GRCh37 Chromosome 1, 27121547: 27121547

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

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 1

Sources for Hyperphosphatasia with Mental Retardation Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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