Trait
Neurofibroma
A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.
Summary
- Also called
- Neurofibromata, Neurofibromatosis
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test18 genes linked to Neurofibroma
Changes in these genes cause rare conditions in which Neurofibroma is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| NF1neurofibromin 1 | Often (30–79%) | In 4 conditions |
| SUFUSUFU negative regulator of hedgehog signaling | Often (30–79%) | In 2 conditions |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Sometimes (5–29%) | In 1 condition |
| LRP1LDL receptor related protein 1 | Sometimes (5–29%) | In 1 condition |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Sometimes (5–29%) | In 2 conditions |
| PDGFBplatelet derived growth factor subunit B | Sometimes (5–29%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sometimes (5–29%) | In 1 condition |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sometimes (5–29%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Sometimes (5–29%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Sometimes (5–29%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Not recorded | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Not recorded | In 1 condition |
| SDHCsuccinate dehydrogenase complex subunit C | Not recorded | In 1 condition |
| SPRED1sprouty related EVH1 domain containing 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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