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.
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
Search interest in NME1
Potential gene panels for NME1 gene
MitoMet®Plus aCGH Analysis Panel
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 panelNeuroblastoma (sequence analysis of NME1 gene) Panel
By CGC Genetics
This panel specifically test the NME1 gene.
More info about this panelNuclear-Mito NGS Panel Panel
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 panelNME1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NME1 gene.
More info about this panelNeuroblastoma , Panel Massive Sequencing (NGS) 4 Genes Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HJV LRRK2 ADNP HCRT PIKFYVE APOB RPS17