MCID: HYP553
MIFTS: 19

Hyperphosphatasia with Mental Retardation Syndrome 3 malady

Categories: Genetic diseases (common), Neuronal diseases, Mental diseases

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 3

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Aliases & Descriptions for Hyperphosphatasia with Mental Retardation Syndrome 3:

Name: Hyperphosphatasia with Mental Retardation Syndrome 3 52 24 70 27 12
Glycosylphosphatidylinositol Biosynthesis Defect 8 70
Mental Retardation, Autosomal Recessive 17 68
Autosomal Recessive Mental Retardation 17 70
Autosomal Recessive Mental Retardation 21 70
 
Gpibd8 70
Hpmrs3 70
Mrt21 70
Mrt17 70

Characteristics:

HPO:

64
hyperphosphatasia with mental retardation syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 614207
MedGen37 C3280153

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 3

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OMIM:52 Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe... (614207) more...

MalaCards based summary: Hyperphosphatasia with Mental Retardation Syndrome 3, also known as glycosylphosphatidylinositol biosynthesis defect 8, is related to hyperphosphatasia with mental retardation syndrome 1, and has symptoms including microcephaly, seizures and intellectual disability, mild. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 3 is PGAP2 (Post-GPI Attachment To Proteins 2).

UniProtKB/Swiss-Prot:70 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

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Diseases in the Hyperphosphatasia with Mental Retardation Syndrome family:

Hyperphosphatasia with Mental Retardation Syndrome 1 Hyperphosphatasia with Mental Retardation Syndrome 2
hyperphosphatasia with mental retardation syndrome 3 Hyperphosphatasia with Mental Retardation Syndrome 4
Hyperphosphatasia with Mental Retardation Syndrome 5 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:

idRelated DiseaseScoreTop Affiliating Genes
1hyperphosphatasia with mental retardation syndrome 110.9

Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 3

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Symptoms by clinical synopsis from OMIM:

614207

Clinical features from OMIM:

614207

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 3:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 rare (5%) HP:0000252
2 seizures64 rare (5%) HP:0001250
3 intellectual disability, mild64 rare (5%) HP:0001256
4 cerebral atrophy64 rare (5%) HP:0002059
5 muscular hypotonia64 HP:0001252
6 global developmental delay64 HP:0001263
7 hyperphosphatemia64 HP:0002905
8 elevated alkaline phosphatase64 HP:0003155
9 intellectual disability, severe64 HP:0010864

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 3

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Interventional clinical trials:

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

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 3

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Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 3:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 327 24 PGAP2

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 3

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Publications for Hyperphosphatasia with Mental Retardation Syndrome 3

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Variations for Hyperphosphatasia with Mental Retardation Syndrome 3

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

70
id Symbol AA change Variation ID SNP ID
1PGAP2p.Arg16TrpVAR_069664rs773359554
2PGAP2p.Tyr99CysVAR_069665
3PGAP2p.Leu127SerVAR_069666
4PGAP2p.Thr160IleVAR_069667rs780188037
5PGAP2p.Arg177ProVAR_069668rs774843232

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PGAP2NM_001256240.1(PGAP2): c.296A> G (p.Tyr99Cys)SNVPathogenicrs879255232GRCh38Chr 11, 3824013: 3824013
2PGAP2NM_001256240.1(PGAP2): c.530G> C (p.Arg177Pro)SNVPathogenicrs774843232GRCh38Chr 11, 3825024: 3825024
3PGAP2NM_001256240.1(PGAP2): c.380T> C (p.Leu127Ser)SNVPathogenicrs879255233GRCh38Chr 11, 3824097: 3824097
4PGAP2NM_001256240.1(PGAP2): c.46C> T (p.Arg16Trp)SNVPathogenicrs773359554GRCh38Chr 11, 3811305: 3811305
5PGAP2NM_001145438.2(PGAP2): c.479C> T (p.Thr160Ile)SNVPathogenicrs587776970GRCh37Chr 11, 3845255: 3845255

Expression for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 3

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

Pathways for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 3

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GO Terms for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 3

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Sources for Hyperphosphatasia with Mental Retardation Syndrome 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet