MCID: HYP441
MIFTS: 30

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 57 75 29 13 6
Mabry Syndrome 57 25 75
Glycosylphosphatidylinositol Biosynthesis Defect 2 57 75
Hyperphosphatasia with Mental Retardation Syndrome 25 37
Hpmrs1 57 75
Gpibd2 57 75
Hyperphosphatasia, with Mental Retardation Syndrome, Type 1 ) 40
Glycosylphosphatidylinositol Biosynthesis Defect 2; Gpibd2 57
Hyperphosphatasia with Seizures and Neurologic Deficit 25
Hyperphosphatasia with Mental Retardation 73

Characteristics:

OMIM:

57
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 : 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)

MalaCards based summary : Hyperphosphatasia with Mental Retardation Syndrome 1, also known as mabry syndrome, is related to hyperphosphatasia-intellectual disability syndrome and hyperphosphatasia with mental retardation syndrome 3, 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 related phenotypes are cleft palate and cleft upper lip

UniProtKB/Swiss-Prot : 75 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 : 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.

Wikipedia : 76 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:

57
Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures
long palpebral fissures
arched eyebrows

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

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 1:

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

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:

41
Bone

Publications for Hyperphosphatasia with Mental Retardation Syndrome 1

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 1:

# Title Authors Year
1
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome. ( 28817240 )
2017
2
Mutations in PIGL in a patient with Mabry syndrome. ( 25706356 )
2015
3
Phenotypic variability in Mabry syndrome: evidence for genetic heterogeneity. ( 24134985 )
2012
4
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). ( 22315194 )
2012
5
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. ( 20578257 )
2010

Variations for Hyperphosphatasia with Mental Retardation Syndrome 1

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

75
# 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 12)
# 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

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:

37
# 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....