HPMRS3
MCID: HYP553
MIFTS: 24

Hyperphosphatasia with Mental Retardation Syndrome 3 (HPMRS3)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 3

MalaCards integrated aliases for Hyperphosphatasia with Mental Retardation Syndrome 3:

Name: Hyperphosphatasia with Mental Retardation Syndrome 3 58 76 30 13 6
Glycosylphosphatidylinositol Biosynthesis Defect 8 58 76
Mental Retardation, Autosomal Recessive 17 58 74
Hpmrs3 58 76
Gpibd8 58 76
Mrt17 58 76
Mrt21 58 76
Hyperphosphatasia, with Mental Retardation Syndrome, Type 3 ) 41
Glycosylphosphatidylinositol Biosynthesis Defect 8; Gpibd8 58
Mental Retardation, Autosomal Recessive 17; Mrt17 58
Mental Retardation, Autosomal Recessive 21; Mrt21 58
Mental Retardation, Autosomal Recessive 21 58
Autosomal Recessive Mental Retardation 17 76
Autosomal Recessive Mental Retardation 21 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
most patients are severely affected


HPO:

33
hyperphosphatasia with mental retardation syndrome 3:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome 3

OMIM : 58 Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (614207)

MalaCards based summary : Hyperphosphatasia with Mental Retardation Syndrome 3, also known as glycosylphosphatidylinositol biosynthesis defect 8, is related to cone-rod dystrophy and hearing loss 2. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 3 is PGAP2 (Post-GPI Attachment To Proteins 2). Related phenotypes are seizures and microcephaly

UniProtKB/Swiss-Prot : 76 Hyperphosphatasia with mental retardation syndrome 3: An autosomal recessive disorder usually characterized by mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase.

Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 3

Diseases in the Hyperphosphatasia with Mental Retardation Syndrome 3 family:

Hyperphosphatasia with Mental Retardation Syndrome 1 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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.2

Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 3

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 3:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 microcephaly 33 occasional (7.5%) HP:0000252
3 intellectual disability, mild 33 occasional (7.5%) HP:0001256
4 cerebral atrophy 33 occasional (7.5%) HP:0002059
5 global developmental delay 33 HP:0001263
6 wide nasal bridge 33 HP:0000431
7 short nose 33 HP:0003196
8 intellectual disability, severe 33 HP:0010864
9 cleft palate 33 HP:0000175
10 absent speech 33 HP:0001344
11 broad nasal tip 33 HP:0000455
12 tented upper lip vermilion 33 HP:0010804
13 generalized hypotonia 33 HP:0001290
14 hyperphosphatemia 33 HP:0002905
15 elevated alkaline phosphatase 33 HP:0003155

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing impairment

Head And Neck Mouth:
cleft palate
tented upper lip

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly (in some patients)

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

Laboratory Abnormalities:
hyperphosphatemia
increased serum alkaline phosphatase

Neurologic Central Nervous System:
hypotonia
mental retardation, severe
intellectual disability, mild (in some patients)
delayed psychomotor development
seizures (in some patients)
more

Clinical features from OMIM:

614207

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 3

Search Clinical Trials , NIH Clinical Center for Hyperphosphatasia with Mental Retardation Syndrome 3

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 3

Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 3:

# Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 3 30 PGAP2

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 3

Publications for Hyperphosphatasia with Mental Retardation Syndrome 3

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 3:

# Title Authors Year
1
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. ( 23561847 )
2013
2
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. ( 23561846 )
2013
3
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. ( 21643797 )
2011
4
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. ( 21629298 )
2011

Variations for Hyperphosphatasia with Mental Retardation Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 3:

76
# Symbol AA change Variation ID SNP ID
1 PGAP2 p.Arg16Trp VAR_069664 rs773359554
2 PGAP2 p.Tyr99Cys VAR_069665 rs879255232
3 PGAP2 p.Leu127Ser VAR_069666 rs879255233
4 PGAP2 p.Thr160Ile VAR_069667 rs780188037
5 PGAP2 p.Arg177Pro VAR_069668 rs774843232

ClinVar genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PGAP2 NM_001256240.1(PGAP2): c.296A> G (p.Tyr99Cys) single nucleotide variant Pathogenic rs879255232 GRCh38 Chromosome 11, 3824013: 3824013
2 PGAP2 NM_001256240.1(PGAP2): c.296A> G (p.Tyr99Cys) single nucleotide variant Pathogenic rs879255232 GRCh37 Chromosome 11, 3845243: 3845243
3 PGAP2 NM_001256240.1(PGAP2): c.530G> C (p.Arg177Pro) single nucleotide variant Pathogenic rs774843232 GRCh38 Chromosome 11, 3825024: 3825024
4 PGAP2 NM_001256240.1(PGAP2): c.530G> C (p.Arg177Pro) single nucleotide variant Pathogenic rs774843232 GRCh37 Chromosome 11, 3846254: 3846254
5 PGAP2 NM_001256240.1(PGAP2): c.380T> C (p.Leu127Ser) single nucleotide variant Pathogenic rs879255233 GRCh38 Chromosome 11, 3824097: 3824097
6 PGAP2 NM_001256240.1(PGAP2): c.380T> C (p.Leu127Ser) single nucleotide variant Pathogenic rs879255233 GRCh37 Chromosome 11, 3845327: 3845327
7 PGAP2 NM_001256240.1(PGAP2): c.46C> T (p.Arg16Trp) single nucleotide variant Pathogenic rs773359554 GRCh38 Chromosome 11, 3811305: 3811305
8 PGAP2 NM_001256240.1(PGAP2): c.46C> T (p.Arg16Trp) single nucleotide variant Pathogenic rs773359554 GRCh37 Chromosome 11, 3832535: 3832535
9 PGAP2 NM_001145438.2(PGAP2): c.479C> T (p.Thr160Ile) single nucleotide variant Pathogenic rs587776970 GRCh37 Chromosome 11, 3845255: 3845255
10 PGAP2 NM_001145438.2(PGAP2): c.479C> T (p.Thr160Ile) single nucleotide variant Pathogenic rs587776970 GRCh38 Chromosome 11, 3824025: 3824025

Expression for Hyperphosphatasia with Mental Retardation Syndrome 3

Search GEO for disease gene expression data for Hyperphosphatasia with Mental Retardation Syndrome 3.

Pathways for Hyperphosphatasia with Mental Retardation Syndrome 3

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 3

Sources for Hyperphosphatasia with Mental Retardation Syndrome 3

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75 UMLS via Orphanet
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