Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome 2; Mpph2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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}.

Genes related to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome 2; Mpph2

AKT3

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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

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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.

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.

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 Panel complete gene list SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2, RTTN, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB4A, TUBB, ERMARD, GMPPB, KIF1BP, WDR62, SRD5A3, POMGNT2, POMK, DCX, B3GALNT2, GPSM2, DYNC1H1, TUBB2B, FKTN, FLNA, AKT3, ADGRG1, KATNB1, KIF2A, KIF5C, LAMA2, LAMC3, LARGE1, ASNS, OCLN, PAFAH1B1, POMT1, RELN 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 Panel complete gene list SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2, RTTN, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB4A, TUBB, ERMARD, GMPPB, KIF1BP, WDR62, SRD5A3, POMGNT2, POMK, DCX, B3GALNT2, GPSM2, DYNC1H1, TUBB2B, FKTN, FLNA, AKT3, ADGRG1, KATNB1, KIF2A, KIF5C, LAMA2, LAMC3, LARGE1, ASNS, OCLN, PAFAH1B1, POMT1, RELN 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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