IRX5 gene related symptoms and diseases
All the information presented here about the IRX5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IRX5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Mitral regurgitation | Very Common - Between 80% and 100% cases |
| Tapered finger | Very Common - Between 80% and 100% cases |
| Hypodontia | Very Common - Between 80% and 100% cases |
| Dental malocclusion | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with IRX5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Webbed neck
- Hip dysplasia
- High myopia
- Low posterior hairline
- Hypoplasia of dental enamel
- Craniosynostosis
- Preauricular skin tag
- Microcytic anemia
And 29 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IRX5 gene
Here you will find a list of rare diseases related to the IRX5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME
Alternate names
CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility, hamamy syndrome
Description
Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.
Most common symptoms of CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME
- Hearing impairment
- Hypertelorism
- Micrognathia
- Sensorineural hearing impairment
- Cryptorchidism
More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME
Search interest in IRX5
Potential gene panels for IRX5 gene
Hamamy syndrome (sequence analysis of IRX5 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IRX5 gene.
More info about this panel Portugal.
Craniosynostosis (NGS panel for 30 genes) Panel
Portugal.
By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1
More info about this panel Portugal.
Hamamy syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IRX5 gene.
More info about this panel Germany.
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.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
IRX5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IRX5 gene.
More info about this panel United States.
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