TXNL4A gene related symptoms and diseases
All the information presented here about the TXNL4A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TXNL4A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Abnormal palate morphology | Very Common - Between 80% and 100% cases |
| Hypoplasia of the maxilla | Very Common - Between 80% and 100% cases |
| Bifid uvula | Very Common - Between 80% and 100% cases |
| Prominent nose | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TXNL4A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Underdeveloped nasal alae
- Renal hypoplasia
- Short palpebral fissure
- Choanal atresia
- Renal dysplasia
- Preauricular skin tag
- Narrow palpebral fissure
- Abnormality of vision
And 39 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TXNL4A gene
Here you will find a list of rare diseases related to the TXNL4A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME
Alternate names
CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia, burn-mckeown syndrome, oofd
Description
Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).
Most common symptoms of CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME
- Short stature
- Hearing impairment
- Hypertelorism
- Micrognathia
- Sensorineural hearing impairment
More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME
Search interest in TXNL4A
Potential gene panels for TXNL4A gene
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Treacher Collins syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Treacher Collins syndrome and related disorders NGS panel that also includes the following genes: SF3B4 TCOF1 POLR1A POLR1C POLR1D DHODH TXNL4A EFTUD2 EDNRA
More info about this panel United States.
Treacher Collins syndrome and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Treacher Collins syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SF3B4 TCOF1 POLR1A POLR1C POLR1D DHODH TXNL4A EFTUD2 EDNRA
More info about this panel United States.
Treacher Collins syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Treacher Collins syndrome and related disorders Comprehensive panel that also includes the following genes: SF3B4 TCOF1 POLR1A POLR1C POLR1D DHODH TXNL4A EFTUD2 EDNRA
More info about this panel United States.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
TXNL4A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TXNL4A gene.
More info about this panel United States.
Burn-McKeown Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TXNL4A gene.
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ITK PDE6D NGLY1 CARS2 ALAD TRPV6 MYO1E