ARNT2 gene related symptoms and diseases
All the information presented here about the ARNT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ARNT2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Diabetes insipidus | Very Common - Between 80% and 100% cases |
| Cryptorchidism | Very Common - Between 80% and 100% cases |
| Hypoglycemia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ARNT2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Septo-optic dysplasia
- Microcephaly
- Growth delay
- Spasticity
- Hypoplasia of the corpus callosum
- Blindness
- Prominent forehead
- Hypothyroidism
And 43 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARNT2 gene
Here you will find a list of rare diseases related to the ARNT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SEPTO-OPTIC DYSPLASIA SPECTRUM
Alternate names
SEPTO-OPTIC DYSPLASIA SPECTRUM Is also known as sod, septo-optic dysplasia, de morsier syndrome
Description
Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
Most common symptoms of SEPTO-OPTIC DYSPLASIA SPECTRUM
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Nystagmus
More info about SEPTO-OPTIC DYSPLASIA SPECTRUM
SOURCES: ORPHANET
WEBB-DATTANI SYNDROME; WEDAS
Alternate names
WEBB-DATTANI SYNDROME; WEDAS Is also known as hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies
Description
Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013).
Most common symptoms of WEBB-DATTANI SYNDROME; WEDAS
- Seizures
- Global developmental delay
- Microcephaly
- Growth delay
- Cryptorchidism
More info about WEBB-DATTANI SYNDROME; WEDAS
Search interest in ARNT2
Potential gene panels for ARNT2 gene
Webb-Dattani syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ARNT2 gene.
More info about this panel Germany.
ARNT2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARNT2 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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPECC1L CCND2 ARL6IP1 KDM2B TNFRSF11A ZIC3