Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome 2; Mpph2

Description

MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP ) (summary by Gripp et al., 2009).For a discussion of genetic heterogeneity of MPPH, see {603387}.

Clinical Features

Top most frequent phenotypes and symptoms related to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome 2; Mpph2

  • Intellectual disability
  • Seizures
  • Macrocephaly
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum
  • Hydrocephalus
  • Syndactyly
  • Polydactyly
  • Polymicrogyria
  • Overgrowth

And another 6 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.

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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Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome 2; Mpph2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Somatic Overgrowth Gene Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Segmental Overgrowth Disorders - NGS panel (8 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

TSC1, TSC2, AKT1, AKT3, MTOR, PIK3CA, PIK3R2, PTEN
Specificity
13 %
Genes
100 %
AKT3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

AKT3
Specificity
100 %
Genes
100 %
Macrocephaly (NGS panel for 16 genes).

By CGC Genetics (Portugal).

MED12, NSD1, MLC1, HEPACAM, DHCR24, EZH2, AKT3, GFAP, GPC3, ASPA, NFIX, PIGA, PIGN, PIK3CA, PIK3R2, PTEN
Specificity
7 %
Genes
100 %
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, sequence analysis of AKT3 gene).

By CGC Genetics (Portugal).

AKT3
Specificity
100 %
Genes
100 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes).

By CGC Genetics (Portugal).

NPRL3, CCND2, DEPDC5, EZH2, AKT3, MTOR, PIK3CA, PIK3R2
Specificity
13 %
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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