Hyperphosphatasia With Mental Retardation Syndrome 3; Hpmrs3

Description

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 (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 3; Hpmrs3

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment
  • Cleft palate
  • Motor delay
  • Wide nasal bridge

And another 16 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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 3; Hpmrs3 Is also known as mental retardation, autosomal recessive 17, mrt21, glycosylphosphatidylinositol biosynthesis defect 8, gpibd8, mrt17, mental retardation, autosomal recessive 21.

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 3; Hpmrs3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Hyperphosphatasia with mental retardation syndrome type 3.

By Centogene AG - the Rare Disease Company (Germany).

PGAP2
Specificity
100 %
Genes
100 %
PGAP2.

By Fulgent Genetics Fulgent Genetics (United States).

PGAP2
Specificity
100 %
Genes
100 %

We have -5 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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