ORPHA:363700

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

Synonyms: Von Recklinghausen disease due to NF1 mutation or intragenic deletion

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
Status: active

This disease is described under Neurofibromatosis type 1

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	Von Recklinghausen disease due to NF1 mutation or intragenic deletion
fr	Neurofibromatose type 1 par mutation ou délétion intragénique de NF1	Maladie de Recklinghausen par mutation ou délétion intragénique de NF1
de	Neurofibromatose Typ 1 durch NF1-Genmutation oder intragenische Deletion	Von Recklinghausen-Krankheit durch NF1-Genmutation oder intragenische Deletion
es	Neurofibromatosis tipo 1 por una mutación en el gen NF1 o una deleción intragénica	Enfermedad de Von Recklinghause por una mutación en el gen NF1 o una deleción intragénica
it	Neurofibromatosi tipo 1 da mutazione o delezione intragenica di NF1	Malattia di von Recklinghausen da mutazione o delezione intragenica di NF1
nl	Neurofibromatose type 1 door NF1-mutatie of intragenische deletie	Ziekte van Von Recklinghausen door NF1-mutatie of intragenische deletie
pt	Neurofibromatose tipo 1 por mutação ou deleção intragénica em NF1
pl	Neurofibromatoza typu 1 spowodowana mutacją NF1 lub delecją wewnątrzgenową	Choroba von Recklinghausena spowodowana mutacją NF1 lub delecją wewnątrzgenową
cs	Neurofibromatóza typ 1 způsobená mutacemi nebo intragenovými delecemi NF1 genu	Von Recklinghausenova nemoc způsobená mutacemi nebo intragenovými delecemi NF1 genu
uk	Нейрофіброматоз тип 1, зумовлений мутацією або внутрішньогенною делецією NF1	Хвороба фон Реклінггаузена внаслідок мутації або внутрішньогенної делеції NF1
zh	NF1基因突变或基因内缺失所致神经纤维瘤病1型	NF1基因突变或基因内缺失所致Von Recklinghausen病
tr	NF1 mutasyonu veya intragenik delesyon kaynaklı nörofibromatozis tip 1	NF1 mutasyonu veya intragenik delesyonuna bağlı Von Recklinghausen hastalığı

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	162200	E		validated
ICD-10	Q85.0	NTBT	attributed	validated
MONDO	0018208	E		validated
UMLS	C5779636	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:636Neurofibromatosis type 1
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare skin diseases; rare renal diseases; rare ophthalmic disorders; rare bone diseases; rare neoplastic diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NF1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:7765	ENSG00000196712	613113	17q11.2	neurofibromin 1	20301288[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

71 annotations · validated 2020-03-20

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000957	Cafe-au-lait spot
HP:0000316	Hypertelorism
Frequent (79-30%)
HP:0001999	Abnormal facial shape
HP:0001627	Abnormal heart morphology
HP:0000924	Abnormality of the skeletal system
HP:0007018	Attention deficit hyperactivity disorder
HP:0000997	Axillary freckling
HP:0012062	Bone cyst
HP:0410263	Brain imaging abnormality
HP:0000475	Broad neck
HP:0000280	Coarse facial features
HP:0001252	Hypotonia
HP:0030052	Inguinal freckling
HP:0001382	Joint hypermobility
HP:0001176	Large hands
HP:0009737	Lisch nodules
HP:0001833	Long foot
HP:0000256	Macrocephaly
HP:0012758	Neurodevelopmental delay
HP:0011407	Proportionate tall stature
HP:0002650	Scoliosis
HP:0001328	Specific learning disability
HP:0009088	Speech articulation difficulties
HP:0100698	Subcutaneous neurofibromas
Occasional (29-5%)
HP:0012210	Abnormal renal morphology
HP:0006479	Abnormality of the dental pulp
HP:0430022	Abnormality of the sphenoid sinus
HP:0000286	Epicanthus
HP:0000324	Facial asymmetry
HP:0002857	Genu valgum
HP:0001263	Global developmental delay
HP:0000218	High palate
HP:0002079	Hypoplasia of the corpus callosum
HP:0000601	Hypotelorism
HP:0010794	Impaired visuospatial constructive cognition
HP:0001249	Intellectual disability
HP:0000276	Long face
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000341	Narrow forehead
HP:0100697	Neurofibrosarcoma
HP:0009734	Optic nerve glioma
HP:0000767	Pectus excavatum
HP:0001761	Pes cavus
HP:0002057	Prominent glabella
HP:0000411	Protruding ear
HP:0001250	Seizure
HP:0004322	Short stature
HP:0009735	Spinal neurofibromas
HP:0012471	Thick vermilion border
Very rare (<4-1%)
HP:0002992	Abnormality of tibia morphology
HP:0001631	Atrial septal defect
HP:0032252	Granuloma
HP:0002315	Headache
HP:0001028	Hemangioma
HP:0000238	Hydrocephalus
HP:0000126	Hydronephrosis
HP:0003307	Hyperlordosis
HP:0001639	Hypertrophic cardiomyopathy
HP:0002751	Kyphoscoliosis
HP:0020035	Lower limb dysmetria
HP:0012733	Macule
HP:0001653	Mitral regurgitation
HP:0001634	Mitral valve prolapse
HP:0030426	Ossifying fibroma
HP:0001655	Patent foramen ovale
HP:0001642	Pulmonic stenosis
HP:0008678	Renal hypoplasia/aplasia
HP:0100008	Schwannoma
HP:0000246	Sinusitis
HP:0001629	Ventricular septal defect

Run the differential on the 2 obligate / very frequent terms

Annotation source: 28213670[PMID]_26338194[PMID]_20513137[PMID]_29618358[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/363700
This record as JSON: /data/d/363700.json