Porencephaly 2; Poren2

Description

Porencephaly is a neurologic disorder characterized by fluid-filled cysts or cavities in the brain and is thought to result from disturbed vascular supply leading to cerebral degeneration. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012).For a discussion of genetic heterogeneity of porencephaly, see POREN1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Porencephaly 2; Poren2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Spasticity
  • Ventriculomegaly
  • Headache
  • Tetraplegia
  • Focal-onset seizure
  • Spastic tetraplegia

And another 6 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.

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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Porencephaly 2; Poren2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Familial Porencephaly.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

COL4A1, COL4A2
Specificity
50 %
Genes
100 %
COL4A2. Complete sequencing.

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

COL4A2
Specificity
100 %
Genes
100 %
COL4A1, COL4A2. NextGeneDx. Complete sequencing by NGS.

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

COL4A1, COL4A2
Specificity
50 %
Genes
100 %
Porencephaly 2 (sequence analysis of COL4A2 gene).

By CGC Genetics (Portugal).

COL4A2
Specificity
100 %
Genes
100 %
Porencephaly 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

COL4A2
Specificity
100 %
Genes
100 %
STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

COL4A1, COL4A2
Specificity
50 %
Genes
100 %
Hanac Syndrome.

By Exeter Molecular Genetics Laboratory (United Kingdom).

COL4A2
Specificity
100 %
Genes
100 %
Familial Porencephaly.

By Exeter Molecular Genetics Laboratory (United Kingdom).

COL4A2
Specificity
100 %
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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