Hyperphosphatasia With Mental Retardation Syndrome 2; Hpmrs2

Description

Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperphosphatasia With Mental Retardation Syndrome 2; Hpmrs2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Delayed speech and language development

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hyperphosphatasia With Mental Retardation Syndrome 2; Hpmrs2 Is also known as glycosylphosphatidylinositol biosynthesis defect 6, gpibd6.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hyperphosphatasia With Mental Retardation Syndrome 2; Hpmrs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
CHOP Epilepsy Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TSC1, TSC2, UBE3A, WWOX, SLC12A5, CACNA1A , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Hyperphosphatasia with mental retardation syndrome 2 (sequence analysis of PIGO gene).

By CGC Genetics (Portugal).

PIGO
Specificity
100 %
Genes
100 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SPTAN1, CDKL5, STXBP1, TSC1, TSC2, WWOX, CNTNAP2, PCDH19, ARHGEF9, ARFGEF2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
Hyperphosphatasia with Intellectual Disability via PIGO Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

PIGO
Specificity
100 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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