LIN28B gene related symptoms and diseases

All the information presented here about the LIN28B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LIN28B gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Spinal cord compression Very Common - Between 80% and 100% cases
Elevated urinary homovanillic acid Very Common - Between 80% and 100% cases
Elevated urinary catecholamines Very Common - Between 80% and 100% cases
Elevated urinary dopamine Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LIN28B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abdominal mass
  • Opsoclonus
  • Adrenal calcification
  • Ganglioneuroblastoma
  • Horner syndrome
  • Neoplasm of the nervous system
  • Ganglioneuroma
  • Paraganglioma

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LIN28B gene

Here you will find a list of rare diseases related to the LIN28B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEUROBLASTOMA


Description

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Most common symptoms of NEUROBLASTOMA

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


More info about NEUROBLASTOMA

SOURCES: ORPHANET OMIM


Potential gene panels for LIN28B gene

LIN28B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LIN28B gene.

More info about this panel


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