MCID: HYP553
MIFTS: 20

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 49 11 67 24
Mental Retardation, Autosomal Recessive 17 65
Autosomal Recessive Mental Retardation 17 67
Autosomal Recessive Mental Retardation 21 67
 
Hpmrs3 67
Mrt21 67
Mrt17 67

Characteristics:

HPO:

61
hyperphosphatasia with mental retardation syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM49 614207
MedGen34 C3280153
UMLS65 C3280153

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 3

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OMIM:49 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 mental retardation, autosomal recessive 17, is related to hyperphosphatasia with mental retardation syndrome 1 and neutral lipid storage disease with myopathy, 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:67 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

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 110.0
2neutral lipid storage disease with myopathy9.5MRT17, PGAP2

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 9)
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 muscular hypotonia HP:0001252
6 global developmental delay HP:0001263
7 hyperphosphatemia HP:0002905
8 elevated alkaline phosphatase HP:0003155
9 intellectual disability, severe 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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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:

67
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:

5
id Gene Variation 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 variantPathogenicrs587776970GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet