Pontocerebellar Hypoplasia, Type 1c; Pch1c

Description

Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Pontocerebellar Hypoplasia, Type 1c; Pch1c

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture
  • Feeding difficulties
  • Visual impairment
  • Hypoplasia of the corpus callosum
  • Cerebellar hypoplasia
  • Cerebral cortical atrophy

And another 5 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

Pontocerebellar Hypoplasia, Type 1c; Pch1c Is also known as hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

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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Pontocerebellar Hypoplasia, Type 1c; Pch1c Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Pontocerebellar hypoplasia, type 1C (sequence analysis of EXOSC8 gene).

By CGC Genetics (Portugal).

EXOSC8
Specificity
100 %
Genes
100 %
Spinal muscular atrophy (NGS panel for 21 genes).

By CGC Genetics (Portugal).

SCO2, UBA1, VAPB, VRK1, SLC5A7, CHCHD10, BSCL2, EXOSC8, BICD2, TRPV4, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GARS, DNAJB2, IGHMBP2, ASAH1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Joubert syndrome, EXOC8 related.

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

EXOSC8
Specificity
100 %
Genes
100 %
AllNeuro panel.

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

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Spinal Muscular Atrophy Panel.

By CeGaT GmbH (Germany).

SCO2, UBA1, VAPB, VRK1, SLC5A7, CHCHD10, BSCL2, EXOSC8, BICD2, EXOSC3, TRPV4, AARS, LAS1L, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GARS , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Spinal Muscular Atrophy (SMA) Panel.

By CeGaT GmbH (Germany).

SCO2, UBA1, VAPB, VRK1, SLC5A7, CHCHD10, BSCL2, EXOSC8, BICD2, EXOSC3, TRPV4, AARS, LAS1L, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GARS , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
EXOSC8.

By Fulgent Genetics Fulgent Genetics (United States).

EXOSC8
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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