MCID: HYP441
MIFTS: 29

Hyperphosphatasia with Mental Retardation Syndrome 1

Categories: Genetic diseases, Neuronal diseases, Mental 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 54 24 71 29 13
Mabry Syndrome 24 25 71
Hyperphosphatasia with Seizures and Neurologic Deficit 25
Hyperphosphatasia with Mental Retardation Syndrome 25
Glycosylphosphatidylinositol Biosynthesis Defect 2 71
Hyperphosphatasia with Mental Retardation 69
Gpibd2 71
Hpmrs1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
hyperphosphatasia with mental retardation syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

OMIM : 54
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 hyperphosphatasia with mental retardation syndrome and hyperphosphatasia-intellectual disability syndrome, and has symptoms including intellectual disability, severe, absent speech and seizures. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 1 is PIGV (Phosphatidylinositol Glycan Anchor Biosynthesis Class V). Affiliated tissues include bone and eye.

Genetics Home Reference : 25 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 : 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.

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:

54

Neurologic- Central Nervous System:
hypotonia
seizures
mental retardation, severe
speech delay (in some patients)
athetoid and dystonic hand movements (in some patients)
more
Head And Neck- Face:
midface hypoplasia
prognathism

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

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

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

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)

Head And Neck- Eyes:
arched eyebrows
hypertelorism
long palpebral fissures

Head And Neck- Nose:
broad nasal tip
broad nasal bridge

Skeletal- Skull:
plagiocephaly

Skeletal- Hands:
tapered fingers
hypoplastic terminal phalanges (brachytelephalangy)

Cardiovascular- Heart:
ventral septal defect (rare)

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


Clinical features from OMIM:

239300

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 1:

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

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:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 1 29 24 PIGV

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 1

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

39
Bone, Eye

Publications for Hyperphosphatasia with Mental Retardation Syndrome 1

Variations for Hyperphosphatasia with Mental Retardation Syndrome 1

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 PIGV NM_017837.3(PIGV): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs139073416 GRCh37 Chromosome 1, 27121547: 27121547
2 PIGV NM_017837.3(PIGV): c.1154A> C (p.His385Pro) single nucleotide variant Pathogenic rs267606951 GRCh37 Chromosome 1, 27121679: 27121679
3 PIGV NM_017837.3(PIGV): c.766C> A (p.Gln256Lys) single nucleotide variant Pathogenic rs267606952 GRCh37 Chromosome 1, 27121291: 27121291
4 PIGV NM_017837.3(PIGV): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs139073416 GRCh37 Chromosome 1, 27121547: 27121547
5 PIGV NM_017837.3(PIGV): c.467G> A (p.Cys156Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs387907023 GRCh37 Chromosome 1, 27120992: 27120992
6 PIGV NM_017837.3(PIGV): c.494C> A (p.Ala165Glu) single nucleotide variant Pathogenic rs376328153 GRCh37 Chromosome 1, 27121019: 27121019

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

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 1

Sources for Hyperphosphatasia with Mental Retardation Syndrome 1

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