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 56 73 29 13 6
Glycosylphosphatidylinositol Biosynthesis Defect 8 56 73
Mental Retardation, Autosomal Recessive 17 56 71
Hpmrs3 56 73
Gpibd8 56 73
Mrt17 56 73
Mrt21 56 73
Hyperphosphatasia, with Mental Retardation Syndrome, Type 3 39
Glycosylphosphatidylinositol Biosynthesis Defect 8; Gpibd8 56
Mental Retardation, Autosomal Recessive 17; Mrt17 56
Mental Retardation, Autosomal Recessive 21; Mrt21 56
Mental Retardation, Autosomal Recessive 21 56
Autosomal Recessive Mental Retardation 17 73
Autosomal Recessive Mental Retardation 21 73

Characteristics:

OMIM:

56
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 : 56 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. 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 : 73 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

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 3:

31 (showing 16, show less)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 microcephaly 31 occasional (7.5%) HP:0000252
3 intellectual disability, mild 31 occasional (7.5%) HP:0001256
4 cerebral atrophy 31 occasional (7.5%) HP:0002059
5 hearing impairment 31 HP:0000365
6 global developmental delay 31 HP:0001263
7 wide nasal bridge 31 HP:0000431
8 short nose 31 HP:0003196
9 intellectual disability, severe 31 HP:0010864
10 cleft palate 31 HP:0000175
11 broad nasal tip 31 HP:0000455
12 generalized hypotonia 31 HP:0001290
13 tented upper lip vermilion 31 HP:0010804
14 absent speech 31 HP:0001344
15 hyperphosphatemia 31 HP:0002905
16 elevated alkaline phosphatase 31 HP:0003155

Symptoms via clinical synopsis from OMIM:

56
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 29 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:

(showing 5, show less)
# Title Authors PMID Year
1
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. 6 56
23561846 2013
2
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. 6 56
23561847 2013
3
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. 56 6
21629298 2011
4
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. 56 6
21643797 2011
5
A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family. 61
27871432 2016

Variations for Hyperphosphatasia with Mental Retardation Syndrome 3

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

6 (showing 6, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PGAP2 NM_014489.4(PGAP2):c.479A>G (p.Tyr160Cys)SNV Pathogenic 50502 rs879255232 11:3845243-3845243 11:3824013-3824013
2 PGAP2 NM_014489.4(PGAP2):c.713G>C (p.Arg238Pro)SNV Pathogenic 50503 rs774843232 11:3846254-3846254 11:3825024-3825024
3 PGAP2 NM_014489.4(PGAP2):c.563T>C (p.Leu188Ser)SNV Pathogenic 50504 rs879255233 11:3845327-3845327 11:3824097-3824097
4 PGAP2 NM_014489.4(PGAP2):c.46C>T (p.Arg16Trp)SNV Pathogenic 50505 rs773359554 11:3832535-3832535 11:3811305-3811305
5 PGAP2 NM_014489.4(PGAP2):c.491C>T (p.Thr164Ile)SNV Pathogenic 50506 rs587776970 11:3845255-3845255 11:3824025-3824025
6 PGAP2 NM_014489.4(PGAP2):c.2T>G (p.Met1Arg)SNV Pathogenic 694699 11:3832491-3832491 11:3811261-3811261

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

73 (showing 5, show less)
# 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

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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