CTNNA2 gene related symptoms and diseases

All the information presented here about the CTNNA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CTNNA2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Hyperreflexia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CTNNA2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cerebellar hypoplasia
  • Tetraplegia
  • Spastic tetraplegia
  • Pachygyria
  • Postnatal microcephaly
  • Hypoplasia of the brainstem
  • Cortical dysplasia
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Rare diseases associated to CTNNA2 gene

Here you will find a list of rare diseases related to the CTNNA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9


Description

Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by Schaffer et al., 2018).For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (OMIM ).

Most common symptoms of CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Hyperreflexia


More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9

SOURCES: OMIM


Potential gene panels for CTNNA2 gene

Neuronal migration disorder (sequence analysis of CTNNA2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CTNNA2 gene.

More info about this panel

Neuronal migration disorder Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CTNNA2 gene.

More info about this panel

CTNNA2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CTNNA2 gene.

More info about this panel

Focus::MCL™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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