MCID: HYP553
MIFTS: 21

Hyperphosphatasia with Mental Retardation Syndrome 3

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 53 71 28 13
Glycosylphosphatidylinositol Biosynthesis Defect 8 53 71
Mental Retardation, Autosomal Recessive 17 53 69
Hpmrs3 53 71
Gpibd8 53 71
Mrt17 53 71
Mrt21 53 71
Glycosylphosphatidylinositol Biosynthesis Defect 8; Gpibd8 53
Mental Retardation, Autosomal Recessive 17; Mrt17 53
Mental Retardation, Autosomal Recessive 21; Mrt21 53
Mental Retardation, Autosomal Recessive 21 53
Autosomal Recessive Mental Retardation 17 71
Autosomal Recessive Mental Retardation 21 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
most patients are severely affected


HPO:

31
hyperphosphatasia with mental retardation syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome 3

OMIM : 53 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, is also known as glycosylphosphatidylinositol biosynthesis defect 8, and has symptoms including seizures, global developmental delay and microcephaly. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 3 is PGAP2 (Post-GPI Attachment To Proteins 2).

UniProtKB/Swiss-Prot : 71 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

Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 3

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckHead:
microcephaly (in some patients)

NeurologicCentralNervousSystem:
delayed psychomotor development
mental retardation, severe
intellectual disability, mild (in some patients)
hypotonia
seizures (in some patients)
more
MuscleSoftTissue:
hypotonia

LaboratoryAbnormalities:
increased serum alkaline phosphatase
hyperphosphatemia


Clinical features from OMIM:

614207

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 global developmental delay 31 HP:0001263
3 microcephaly 31 occasional (7.5%) HP:0000252
4 intellectual disability, mild 31 occasional (7.5%) HP:0001256
5 intellectual disability, severe 31 HP:0010864
6 cerebral atrophy 31 occasional (7.5%) HP:0002059
7 generalized hypotonia 31 HP:0001290
8 elevated alkaline phosphatase 31 HP:0003155
9 hyperphosphatemia 31 HP:0002905

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 28 PGAP2

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 3

Publications for Hyperphosphatasia with Mental Retardation Syndrome 3

Variations for Hyperphosphatasia with Mental Retardation Syndrome 3

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

71
# 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.530G> C (p.Arg177Pro) single nucleotide variant Pathogenic rs774843232 GRCh38 Chromosome 11, 3825024: 3825024
3 PGAP2 NM_001256240.1(PGAP2): c.380T> C (p.Leu127Ser) single nucleotide variant Pathogenic rs879255233 GRCh38 Chromosome 11, 3824097: 3824097
4 PGAP2 NM_001256240.1(PGAP2): c.46C> T (p.Arg16Trp) single nucleotide variant Pathogenic rs773359554 GRCh38 Chromosome 11, 3811305: 3811305
5 PGAP2 NM_001145438.2(PGAP2): c.479C> T (p.Thr160Ile) single nucleotide variant Pathogenic rs587776970 GRCh37 Chromosome 11, 3845255: 3845255

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

3 CDC
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10 dbSNP
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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