MCID: HYP553
MIFTS: 19

Hyperphosphatasia with Mental Retardation Syndrome 3

Categories: Genetic diseases, Neuronal diseases, Mental 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 54 24 71 29 13
Glycosylphosphatidylinositol Biosynthesis Defect 8 71
Mental Retardation, Autosomal Recessive 17 69
Autosomal Recessive Mental Retardation 17 71
Autosomal Recessive Mental Retardation 21 71
Gpibd8 71
Hpmrs3 71
Mrt17 71
Mrt21 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
most patients are severely affected


HPO:

32
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 : 54
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 intellectual disability, severe, cerebral atrophy and seizures. 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:

54

Neurologic- Central Nervous System:
hypotonia
delayed psychomotor development
seizures (in some patients)
mental retardation, severe
cerebral atrophy (in some patients)
more
Head And Neck- Head:
microcephaly (in some patients)

Muscle Soft Tissue:
hypotonia

Laboratory- Abnormalities:
hyperphosphatemia
increased serum alkaline phosphatase


Clinical features from OMIM:

614207

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 3:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 32 HP:0010864
2 cerebral atrophy 32 occasional (7.5%) HP:0002059
3 seizures 32 occasional (7.5%) HP:0001250
4 microcephaly 32 occasional (7.5%) HP:0000252
5 global developmental delay 32 HP:0001263
6 intellectual disability, mild 32 occasional (7.5%) HP:0001256
7 hyperphosphatemia 32 HP:0002905
8 muscular hypotonia 32 HP:0001252
9 elevated alkaline phosphatase 32 HP:0003155

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:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 3 29 24 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
id 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
id 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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59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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