MCID: HYP553
MIFTS: 12

Hyperphosphatasia with Mental Retardation Syndrome 3 malady

Genetic diseases, Neuronal diseases, Mental diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases categories
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Summaries for Hyperphosphatasia with Mental Retardation Syndrome 3

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MalaCards based summary: Hyperphosphatasia with Mental Retardation Syndrome 3 and has symptoms including An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 3 is PGAP2 (post-GPI attachment to proteins 2).

Description from OMIM:46 614207

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 3

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Hyperphosphatasia with Mental Retardation Syndrome 3, Aliases & Descriptions:

Name: Hyperphosphatasia with Mental Retardation Syndrome 3 46


Classifications:



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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Symptoms by clinical synopsis from OMIM:

614207

Clinical features from OMIM:

614207

HPO human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 3:

(show all 10)
id Description Frequency HPO Source Accession
1 microcephaly rare (5%) HP:0000252
2 seizures rare (5%) HP:0001250
3 intellectual disability, mild rare (5%) HP:0001256
4 cerebral atrophy rare (5%) HP:0002059
5 autosomal recessive inheritance HP:0000007
6 global developmental delay HP:0001263
7 hyperphosphatemia HP:0002905
8 elevated alkaline phosphatase HP:0003155
9 congenital onset HP:0003577
10 intellectual disability, severe HP:0010864

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 3

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

64
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:

6
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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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

Sources for Hyperphosphatasia with Mental Retardation Syndrome 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet