FIBP gene related symptoms and diseases

All the information presented here about the FIBP 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 FIBP gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Spina bifida Very Common - Between 80% and 100% cases
Neutropenia Very Common - Between 80% and 100% cases
Renal cyst Very Common - Between 80% and 100% cases
Macroglossia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Round face
  • Intestinal malrotation
  • Overgrowth
  • Mitral valve prolapse
  • Renal dysplasia
  • Tall stature
  • Spina bifida occulta
  • Astigmatism

And 36 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FIBP gene

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


TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


Alternate names

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Description

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

Most common symptoms of TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for FIBP gene

FIBP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FIBP gene.

More info about this panel


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