CTNND1 gene related symptoms and diseases

All the information presented here about the CTNND1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CTNND1 gene

Symptoms // Phenotype % Cases
Hypertelorism Very Common - Between 80% and 100% cases
Hypothyroidism Very Common - Between 80% and 100% cases
Ectropion Very Common - Between 80% and 100% cases
Flat face Very Common - Between 80% and 100% cases
Anal atresia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CTNND1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Conical tooth
  • Distichiasis
  • High forehead
  • Cleft lip
  • Reduced number of teeth
  • Euryblepharon
  • Abnormal facial shape
  • Ectropion of lower eyelids

And 39 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CTNND1 gene

Here you will find a list of rare diseases related to the CTNND1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BLEPHARO-CHEILO-ODONTIC SYNDROME


Alternate names

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate, clefting, ectropion, and conical teeth, ectropion, inferior, with cleft lip and/or palate, lagophthalmia-cleft lip and palate syndrome, bcd syndrome, blepharocheilodontic syndrome, elschnig syndrome, bcds, elschi

Description

Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

Most common symptoms of BLEPHARO-CHEILO-ODONTIC SYNDROME

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

SOURCES: ORPHANET OMIM

BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2


Most common symptoms of BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

  • Hypertelorism
  • Abnormal facial shape
  • Hypothyroidism
  • High forehead
  • Cleft lip


More info about BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

SOURCES: OMIM


Potential gene panels for CTNND1 gene

Blepharocheilodontic syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Blepharocheilodontic syndrome Deletion / Duplication panel that also includes the following genes: CDH1 CTNND1

More info about this panel

Blepharocheilodontic syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Blepharocheilodontic syndrome Comprehensive panel that also includes the following genes: CDH1 CTNND1

More info about this panel

Blepharocheilodontic syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Blepharocheilodontic syndrome NGS panel that also includes the following genes: CDH1 CTNND1

More info about this panel

CTNND1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CTNND1 gene.

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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