CEBPD gene related symptoms and diseases

All the information presented here about the CEBPD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CEBPD gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Blurred vision Very Common - Between 80% and 100% cases
Male hypogonadism Very Common - Between 80% and 100% cases
Hiatus hernia Very Common - Between 80% and 100% cases
Soft skin Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CEBPD gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Pulmonary artery stenosis
  • Growth hormone excess
  • Tracheomalacia
  • Aortic root aneurysm
  • Keratoconus
  • Atrophic scars
  • Impotence
  • Adrenocorticotropic hormone deficiency

And 89 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CEBPD gene

Here you will find a list of rare diseases related to the CEBPD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ARTERIAL TORTUOSITY SYNDROME; ATS


Alternate names

ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Most common symptoms of ARTERIAL TORTUOSITY SYNDROME; ATS

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


More info about ARTERIAL TORTUOSITY SYNDROME; ATS

SOURCES: OMIM


Potential gene panels for CEBPD gene

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 CYB5A WDR73 SCN1A TMPO

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