neurofibromatosis type 1
Findings
No curated finding names neurofibromatosis type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
Definition from the Mondo Disease Ontology (MONDO:0018975), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
109 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- GliomaHPOHP:0009733
- 2 of 2 reported patients
- Inguinal frecklingHPOHP:0030052
- 151 of 357 reported patients · Childhood onset
- 11 of 15 reported patients
- 1 of 1 reported patient
- 8 of 22 reported patients
- 2 of 2 reported patients
- 69 of 130 reported patients
- Frequent (30% to 79% of cases)
- PheochromocytomaHPOHP:0002666
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Multiple cafe-au-lait spotsHPOHP:0007565
- 677 of 781 reported patients
- Very frequent (80% to 99% of cases)
- Few cafe-au-lait spotsHPOHP:0007429
- 48 of 56 reported patients
Show the remaining 97
- MeningiomaHPOHP:0002858
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Multiple lipomasHPOHP:0001012
- Very frequent (80% to 99% of cases)
- Neoplasm of the skinHPOHP:0008069
- Very frequent (80% to 99% of cases)
- Plexiform neurofibromaHPOHP:0009732
- 139 of 554 reported patients
- Very frequent (80% to 99% of cases)
- Specific learning disabilityHPOHP:0001328
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NF1HGNC:7765
- Definitive · ClinGen · Autosomal dominant · 2019
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
8 names
Resolves to: neurofibromatosis type 1
- Also called
- Neurofibromatosis 1neurofibromatosis type ineurofibromatosis, type 1NF1Nf1-Microdeletion syndromenonmosaic neurofibromatosis type 1nonmosaic NF1peripheral neurofibromatosis