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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET


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

ARNT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARNT2 gene.

More info about this panel

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MEOX1 EFTUD2 SGCA ABHD12 CACNA1S CAMTA1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more