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.
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
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
Search interest in CTNND1
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 United States.
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 United States.
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 United States.
CTNND1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CTNND1 gene.
More info about this panel United States.
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 United States.
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