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 50 68 25 12
Autosomal Recessive Mental Retardation 17 68
Autosomal Recessive Mental Retardation 21 68
 
Hpmrs3 68
Mrt17 68
Mrt21 68

Characteristics:

HPO:

62
hyperphosphatasia with mental retardation syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 614207
MedGen35 C3280153

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 3

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OMIM:50 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 autosomal recessive mental retardation 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:68 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 110.0
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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Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 3:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 325

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:

68
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)single nucleotide variantPathogenicrs879255232GRCh38Chr 11, 3824013: 3824013
2PGAP2NM_001256240.1(PGAP2): c.530G> C (p.Arg177Pro)single nucleotide variantPathogenicrs774843232GRCh38Chr 11, 3825024: 3825024
3PGAP2NM_001256240.1(PGAP2): c.380T> C (p.Leu127Ser)single nucleotide variantPathogenicrs879255233GRCh38Chr 11, 3824097: 3824097
4PGAP2NM_001256240.1(PGAP2): c.46C> T (p.Arg16Trp)single nucleotide variantPathogenicrs773359554GRCh38Chr 11, 3811305: 3811305
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet