NME1 gene related symptoms and diseases

All the information presented here about the NME1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NME1 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 NME1 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 NME1 gene

Here you will find a list of rare diseases related to the NME1. 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 NME1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Neuroblastoma (sequence analysis of NME1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NME1 gene.

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

NME1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NME1 gene.

More info about this panel

Neuroblastoma , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Neuroblastoma , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: KIF1B ALK NME1 PHOX2B

More info about this panel


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