Hyperphosphatasia With Mental Retardation Syndrome 4; Hpmrs4

Description

Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). 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 4; Hpmrs4

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Wide nasal bridge

And another 20 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 4; Hpmrs4 Is also known as glycosylphosphatidylinositol biosynthesis defect 10, gpibd10.

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 4; Hpmrs4 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 4.

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

PGAP3
Specificity
100 %
Genes
100 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOPATHY, MYOFIBRILLAR, 4; MFM4 ERYTHROMELALGIA PROLIDASE DEFICIENCY WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS GENITOPATELLAR SYNDROME; GTPTS ATELOSTEOGENESIS, TYPE I; AO1

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