HPMRS3
MCID: HYP553
MIFTS: 22
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Hyperphosphatasia with Mental Retardation Syndrome 3 (HPMRS3)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases
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MalaCards integrated aliases for Hyperphosphatasia with Mental Retardation Syndrome 3:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth most patients are severely affected HPO:32
hyperphosphatasia with mental retardation syndrome 3:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications: |
OMIM
:
57
Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (614207)
MalaCards based summary : Hyperphosphatasia with Mental Retardation Syndrome 3, also known as glycosylphosphatidylinositol biosynthesis defect 8, is related to perrault syndrome 1. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 3 is PGAP2 (Post-GPI Attachment To Proteins 2). Related phenotypes are seizures and global developmental delay UniProtKB/Swiss-Prot : 75 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. |
Diseases in the Hyperphosphatasia with Mental Retardation Syndrome 3 family:Diseases related to Hyperphosphatasia with Mental Retardation Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614207Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 3:32 (show all 15)
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UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 3:75
ClinVar genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 3:6
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Search
GEO
for disease gene expression data for Hyperphosphatasia with Mental Retardation Syndrome 3.
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