CTNND2 gene related symptoms and diseases

All the information presented here about the CTNND2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CTNND2 gene

Symptoms // Phenotype % Cases
Short stature Common - Between 50% and 80% cases
Finger syndactyly Common - Between 50% and 80% cases
Intellectual disability, moderate Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CTNND2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cat cry
  • High pitched voice
  • Microretrognathia
  • Preauricular skin tag
  • Round face
  • Recurrent fractures
  • Small hand
  • Joint hyperflexibility

And 119 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CTNND2 gene

Here you will find a list of rare diseases related to the CTNND2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MONOSOMY 5P


Alternate names

MONOSOMY 5P Is also known as cri du chat syndrome, deletion 5p

Description

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

Most common symptoms of MONOSOMY 5P

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


More info about MONOSOMY 5P

SOURCES: ORPHANET

CRI-DU-CHAT SYNDROME


Alternate names

CRI-DU-CHAT SYNDROME Is also known as cat cry syndrome, chromosome 5p deletion syndrome

Description

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

Most common symptoms of CRI-DU-CHAT SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


More info about CRI-DU-CHAT SYNDROME

SOURCES: MESH ORPHANET OMIM

BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY


Alternate names

BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY Is also known as adcme, bafme, benign adult familial myoclonic epilepsy 1, autosomal dominant cortical myoclonus and epilepsy, fame, cortical myoclonic tremor with epilepsy, familial, 1, familial adult myoclonic epilepsy, benign adult familial myoclonus epilepsy, familial cortica

Description

Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.

Most common symptoms of BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY

  • Intellectual disability
  • Seizures
  • Ataxia
  • Tremor
  • Headache


More info about BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY

SOURCES: OMIM MESH ORPHANET


Potential gene panels for CTNND2 gene

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel

Autism Spectrum Disorders Panel Panel

Finland.

By Blueprint Genetics Autism Spectrum Disorders Panel that also includes the following genes: RPL10 TCF20 TRIP12 TSC1 TSC2 BCL11A CACNA1C NSD1 NLGN4X NLGN3

More info about this panel

PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN9A SGCE SLC6A1 STXBP1 CACNB4 CERS1 PCDH19

More info about this panel


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