PRRX1 gene related symptoms and diseases
All the information presented here about the PRRX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PRRX1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Respiratory distress | Very Common - Between 80% and 100% cases |
| Synotia | Very Common - Between 80% and 100% cases |
| Narrow mouth | Very Common - Between 80% and 100% cases |
| Polyhydramnios | Very Common - Between 80% and 100% cases |
| Abnormality of the eye | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PRRX1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Situs inversus totalis
- Holoprosencephaly
- Agenesis of corpus callosum
- Microglossia
- Mandibular aplasia
Not very common - Between 30% and 50% cases
- Anal atresia
- Pulmonary hypoplasia
- Hypoplasia of the maxilla
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PRRX1 gene
Here you will find a list of rare diseases related to the PRRX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME
Description
Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
Most common symptoms of AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME
- Respiratory distress
- Agenesis of corpus callosum
- Narrow mouth
- Polyhydramnios
- Low-set, posteriorly rotated ears
More info about AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME
SOURCES: ORPHANET
SECOND BRANCHIAL CLEFT ANOMALY
Alternate names
SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly, otocephaly, second branchial cleft cyst, holoprosencephaly-agnathia, second branchial cleft fistula
Description
Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).
Most common symptoms of SECOND BRANCHIAL CLEFT ANOMALY
- Hearing impairment
- Micrognathia
- Abnormal facial shape
- Cleft palate
- Low-set ears
More info about SECOND BRANCHIAL CLEFT ANOMALY
Search interest in PRRX1
Potential gene panels for PRRX1 gene
Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection that also includes the following genes: OTX2 PRRX1
More info about this panel United States.
Agnathia-Otocephaly Complex via PRRX1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PRRX1 gene.
More info about this panel United States.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
PRRX1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRRX1 gene.
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
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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