MCID: HYP553
MIFTS: 12

Hyperphosphatasia with Mental Retardation Syndrome 3 malady

Genetic diseases, Neuronal diseases, Mental diseases, Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 3

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Sources:
48OMIM, 34MalaCards
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MalaCards: Hyperphosphatasia with Mental Retardation Syndrome 3 An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 3 is PGAP2 (post-GPI attachment to proteins 2).

Description from OMIM:48 614207

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 3

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48OMIM
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Classifications:



Aliases & Descriptions:

hyperphosphatasia with mental retardation syndrome 3 48


Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 3

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Symptoms for Hyperphosphatasia with Mental Retardation Syndrome 3

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48OMIM
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Symptoms by clinical synopsis from OMIM:

614207

Clinical features from OMIM:

614207

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 3

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 3

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Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 3

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Animal Models for Hyperphosphatasia with Mental Retardation Syndrome 3 or affiliated genes

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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 3:

65
id Symbol AA change Variation ID SNP ID
1PGAP2p.Arg16TrpVAR_069664
2PGAP2p.Tyr99CysVAR_069665
3PGAP2p.Leu127SerVAR_069666
4PGAP2p.Thr160IleVAR_069667
5PGAP2p.Arg177ProVAR_069668

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

1
id Gene Name Type Significance SNP ID Assembly Location
1PGAP2PGAP2, TYR99CYSsingle nucleotide variantPathogenic
2PGAP2PGAP2, ARG177PROsingle nucleotide variantPathogenic
3PGAP2PGAP2, LEU127SERsingle nucleotide variantPathogenic
4PGAP2PGAP2, ARG16TRPundetermined variantPathogenic
5PGAP2NM_001145438.2(PGAP2): c.479C> T (p.Thr160Ile)single nucleotide variantPathogenicGRCh37Chr 11, 3845255: 3845255

Expression for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 3

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 3

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Pathways for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 3

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Compounds 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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Products for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperphosphatasia with Mental Retardation Syndrome 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet