raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:636

Neurofibromatosis type 1

Synonyms: Nonmosaic NF1 · Nonmosaic neurofibromatosis type 1 · Von Recklinghausen disease

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant
Age of onset
Infancy, Neonatal
Status
active

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enNeurofibromatosis type 1Nonmosaic NF1 · Nonmosaic neurofibromatosis type 1 · Von Recklinghausen disease
frNeurofibromatose type 1Maladie de Recklinghausen · NF1 non mosaïque · Neurofibromatose type 1 non mosaïque
deNeurofibromatose Typ 1NF1 · Von Recklinghausen-Erkrankung
esNeurofibromatosis tipo 1Enfermedad de Von Recklinghausen · NF 1 · Neurofibromatosis 1
itNeurofibromatosi tipo 1Malattia di von Recklinghausen · NF1 non in mosaico · Neurofibromatosi tipo 1 non in mosaico
nlNeurofibromatose type 1Niet-mozaïsche NF1 · Niet-mozaïsche neurofibromatose type 1 · Ziekte van von Recklinghausen
ptNeurofibromatose tipo 1Doença von Recklinghausen · NF 1 não em mosaico · Neurofibromatose não em mosaico
plNeurofibromatoza typu 1Choroba Von Recklinghausena · Nerwiakowłókniakowatość 1 · NF1
csNeurofibromatóza, typ 1NF1 · Von Recklinghausenova choroba · Periferní typ neurofibromatózy
ukНейрофіброматоз, тип 1Немозаїчний нейрофіброматоз типу 1 · Немозаїчний NF1 · Хвороба фон Реклінгхаузена
zh神经纤维瘤病1型von Recklinghausen病
trNörofibromatoz tip 1NF1 · Von Recklinghausen hastalığı

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM162200BTNTvalidated
OMIM162210BTNTvalidated
OMIM613675BTNTvalidated
ICD-10Q85.0NTBTinclusionvalidated
ICD-11LD2D.10Especificvalidated
MONDO0018975Evalidated
MeSHD009456Evalidated
UMLSC0027831Evalidated
GARD7866Evalidated
MedDRA10029270Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (13):

Children (2):

Codes that Orphanet moved or referred to this one:

4

Genes

0 direct · 2 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
NF1ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:7765ENSG0000019671261311317q11.2neurofibromin 120301288[PMID]
NF1ORPHA:9768517q11 microdeletion syndromeRole in the phenotype ofAssessedHGNC:7765ENSG0000019671261311317q11.2neurofibromin 1
5

Prevalence and incidence

10 records
TypeClassValueAreaQualificationValidationSource
Point prevalence1-5 / 10 00021 / 100 000United KingdomValue and classValidated20082463[PMID]_2511318[PMID]
Point prevalence1-5 / 10 00024.46 / 100 000FinlandValue and classValidated29215653[PMID]
Point prevalence1-5 / 10 00047.5 / 100 000New ZealandValue and classValidated2518509[PMID]
Point prevalence1-5 / 10 00021.3 / 100 000EuropeValue and classValidated10991696[PMID]_20082463[PMID]_2511318[PMID]_6807042[PMID]_ORPHANET
Prevalence at birth1-5 / 10 00036.65 / 100 000United StatesValue and classValidatedISBN:039800370X[OTHER]_ORPHANET
Prevalence at birth1-5 / 10 00036.9 / 100 000United KingdomValue and classValidated20082463[PMID]
Prevalence at birth1-5 / 10 00033.3 / 100 000WorldwideValue and classValidated20301288[PMID]
Prevalence at birth1-5 / 10 00050 / 100 000FinlandValue and classValidated25354145[PMID]
Point prevalence1-9 / 100 0006.7 / 100 000CanadaValue and classValidated1685193[PMID]
Point prevalence1-5 / 10 00020 / 100 000SwedenValue and classValidated6807042[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

77 annotations · validated 2023-08-10
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0000707Abnormality of the nervous system
HP:0009592Astrocytoma
HP:0000823Delayed puberty
HP:0007440Generalized hyperpigmentation
HP:0001256Intellectual disability, mild
HP:0009737Lisch nodulesDiagnostic criterion
HP:0012733Macule
HP:0000995Melanocytic nevus
HP:0002858Meningioma
HP:0007565Multiple cafe-au-lait spotsDiagnostic criterion
HP:0001012Multiple lipomas
HP:0008069Neoplasm of the skin
HP:0009732Plexiform neurofibromaDiagnostic criterion
HP:0001328Specific learning disability
HP:0001482Subcutaneous nodule
Frequent (79-30%)
HP:0002167Abnormality of speech or vocalization
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0001251Ataxia
HP:0007018Attention deficit hyperactivity disorder
HP:0000997Axillary frecklingDiagnostic criterion
HP:0000028Cryptorchidism
HP:0002857Genu valgum
HP:0002315Headache
HP:0000364Hearing abnormality
HP:0000365Hearing impairment
HP:0001100Heterochromia iridis
HP:0030052Inguinal frecklingDiagnostic criterion
HP:0002354Memory impairment
HP:0003401Paresthesia
HP:0000520Proptosis
HP:0002757Recurrent fractures
HP:0002652Skeletal dysplasia
HP:0003100Slender long bone
HP:0000098Tall stature
Occasional (29-5%)
HP:0000512Abnormal electroretinogram
HP:0000492Abnormal eyelid morphology
HP:0011362Abnormal hair quantity
HP:0007703Abnormality of retinal pigmentation
HP:0000818Abnormality of the endocrine system
HP:0003272Abnormality of the hip bone
HP:0002086Abnormality of the respiratory system
HP:0000924Abnormality of the skeletal system
HP:0010935Abnormality of the upper urinary tract
HP:0100545Arterial stenosis
HP:0000729Autistic behavior
HP:0000518Cataract
HP:0000567Chorioretinal coloboma
HP:0005506Chronic myelogenous leukemia
HP:0007957Corneal opacity
HP:0100723Gastrointestinal stroma tumor
HP:0002970Genu varum
HP:0000501Glaucoma
HP:0000238Hydrocephalus
HP:0000822Hypertension
HP:0001053Hypopigmented skin patches
HP:0001387Joint stiffness
HP:0002808Kyphosis
HP:0000256Macrocephaly
HP:0000545Myopia
HP:0002664Neoplasm
HP:0100013Neoplasm of the breast
HP:0007378Neoplasm of the gastrointestinal tract
HP:0009734Optic nerve gliomaDiagnostic criterion
HP:0000938Osteopenia
HP:0002666Pheochromocytoma
HP:0000826Precocious puberty
HP:0100242Sarcoma
HP:0002650Scoliosis
HP:0001250Seizure
HP:0004322Short stature
HP:0009735Spinal neurofibromas
HP:0010786Urinary tract neoplasm
HP:0000505Visual impairment
Very rare (<4-1%)
HP:0100570Carcinoid tumor
HP:0001909Leukemia
HP:0002859Rhabdomyosarcoma

Run the differential on the 12 obligate / very frequent terms

Annotation source: 20301288[PMID]_25030515[PMID]

7

Sources for this card