POLR1A gene related symptoms and diseases
All the information presented here about the POLR1A 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 POLR1A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Malar flattening | Very Common - Between 80% and 100% cases |
| Choanal atresia | Very Common - Between 80% and 100% cases |
| Hypoplasia of the maxilla | Very Common - Between 80% and 100% cases |
| Conductive hearing impairment | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with POLR1A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Bilateral choanal atresia
- Cleft palate
- Hearing impairment
- Micrognathia
Not very common - Between 30% and 50% cases
- Coloboma
- Abnormal cardiac septum morphology
- Short philtrum
- Renal hypoplasia
And 57 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to POLR1A gene
Here you will find a list of rare diseases related to the POLR1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN
Description
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015).
Most common symptoms of ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN
- Short stature
- Hearing impairment
- Microcephaly
- Micrognathia
- Cleft palate
More info about ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN
SOURCES: OMIM
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 POLR1A
Potential gene panels for POLR1A gene
Craniofacial Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniofacial Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniofacial Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
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.
POLR1A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POLR1A gene.
More info about this panel United States.
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