NF1
MCID: NRF024
MIFTS: 77

Neurofibromatosis, Type I (NF1)

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Neurofibromatosis, Type I

MalaCards integrated aliases for Neurofibromatosis, Type I:

Name: Neurofibromatosis, Type I 57
Von Recklinghausen Disease 57 11 24 75 73 33
Neurofibromatosis 1 11 24 73 43 14 71
Neurofibromatosis, Type 1 57 28 12 5 38
Nf1 57 11 24 73
Neurofibromatosis Type 1 Due to Nf1 Mutation or Intragenic Deletion 58 28
Neurofibromatosis, Peripheral Type 57 33
Neurofibromatosis Type I 11 75
Von Recklinghausen Disease Due to Nf1 Mutation or Intragenic Deletion 58
Von Recklinghausen's Neurofibromatosis 24
Familial Spinal Neurofibromatosis 11
Neurofibromatosis Peripheral Type 73
Nf1 - [neurofibromatosis Type 1] 33
Von Recklinghausen Neuropathy 33
Peripheral Neurofibromatosis 11
Von Recklinghausen Syndrome 73
Neurofibromatosis Type 1 33
Recklinghausen Disease 33
Fsnf 11

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
50% of cases are de novo
sporadic occurrence is associated with advanced paternal age
prevalence of 1 in 3,000


GeneReviews:

24
Penetrance Pedigree studies demonstrate that the penetrance of nf1 is nearly complete after childhood [rasmussen & friedman 2000], but molecular testing has documented incomplete penetrance of pathogenic nf1 variants in a small number of individuals [bettegowda et al 2021].

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111253
OMIM® 57 162200
ICD9CM 34 237.71
MeSH 43 D009456
NCIt 49 C3273
SNOMED-CT 68 92824003
ICD10 via Orphanet 32 Q85.0
Orphanet 58 ORPHA363700
MedGen 40 C0027831
ICD11 33 337970533
UMLS 71 C0027831

Summaries for Neurofibromatosis, Type I

OMIM®: 57 Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009). Type II neurofibromatosis (NF2; 101000) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2; 607379) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993). Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; 120436 and MSH2; 609309) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (see MMRCS1, 276300), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1. See also Legius syndrome (611431), a genetically distinct disorder with a similar phenotype to NF1. (162200) (Updated 08-Dec-2022)

MalaCards based summary: Neurofibromatosis, Type I, also known as von recklinghausen disease, is related to chromosome 17q11.2 deletion syndrome and neurofibroma, and has symptoms including neuralgia An important gene associated with Neurofibromatosis, Type I is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Signal Transduction and Prolactin Signaling. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are hypertelorism and specific learning disability

UniProtKB/Swiss-Prot: 73 A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors.

Disease Ontology: 11 A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has material basis in heterozygous mutation in NF1 on 17q11.2.

Wikipedia: 75 Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of... more...

GeneReviews: NBK1109

Related Diseases for Neurofibromatosis, Type I

Diseases in the Neurofibromatosis family:

Neurofibromatosis, Type Ii Neurofibromatosis, Type I

Diseases related to Neurofibromatosis, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1501)
# Related Disease Score Top Affiliating Genes
1 chromosome 17q11.2 deletion syndrome 33.1 NF1 CRLF3
2 neurofibroma 32.6 RASA2 PDGFRA NF2 NF1 KIT
3 malignant peripheral nerve sheath tumor 32.5 PDGFRA NF2 NF1 KIT
4 adrenal carcinoma 32.4 SDHD SDHB RET NF1
5 paraganglioma and gastric stromal sarcoma 32.1 SDHD SDHC SDHB RET PDGFRA NF1
6 chronic myelomonocytic leukemia 32.1 PTPN11 PDGFRA NF1 KIT
7 myeloproliferative neoplasm 32.1 PTPN11 PDGFRA NF1 KIT
8 leiomyosarcoma 32.0 PDGFRA NF1 KIT
9 serous cystadenocarcinoma 32.0 PMS2 NF1 MSH6
10 neurofibromatosis 32.0 VHL SDHD SDHC SDHB RET RASA2
11 paraganglioma 32.0 VHL SDHD SDHC SDHB RET NF1
12 neurofibromatosis-noonan syndrome 32.0 RASA2 PTPN11 NF1 LOC111811965 EWSR1 ERG
13 small intestine cancer 31.9 PMS2 NF1 MSH6
14 oligodendroglioma 31.9 PMS2 PDGFRA NF1 MSH6
15 lipomatosis, multiple 31.9 NF1 KIT EWSR1
16 malignant spindle cell melanoma 31.9 RASA2 NF1 KIT
17 rasopathy 31.9 RET RASA2 RASA1 PTPN11 NF2 NF1
18 thyroid gland cancer 31.9 SDHD SDHB RET NF1 KIT
19 hereditary breast ovarian cancer syndrome 31.9 RET PMS2 NF1 MSH6
20 mesenchymal cell neoplasm 31.8 PDGFRA NF1 KIT EWSR1
21 connective tissue benign neoplasm 31.8 NF1 KIT EWSR1
22 spinal cord astrocytoma 31.8 NF2 NF1
23 epithelioid neurofibroma 31.8 NF2 NF1
24 atypical neurofibroma 31.8 NF2 NF1
25 spindle cell sarcoma 31.8 NF2 NF1 KIT EWSR1
26 multiple endocrine neoplasia, type i 31.8 VHL SDHD SDHC SDHB RET NF1
27 atypical teratoid rhabdoid tumor 31.8 NF2 NF1 EWSR1
28 peripheral nerve schwannoma 31.8 NF2 NF1
29 optic nerve sheath meningioma 31.8 NF2 NF1
30 keratosis pilaris atrophicans faciei 31.8 PTPN11 NF1
31 cranial nerve malignant neoplasm 31.8 NF2 NF1 EWSR1
32 multiple mucosal neuroma 31.8 RET NF1
33 neurilemmoma of the fifth cranial nerve 31.8 NF2 NF1
34 skin lipoma 31.8 RET NF1
35 glomus tumor 31.8 SDHD SDHB NF1 KIT
36 trigeminal nerve neoplasm 31.8 NF2 NF1
37 plexiform schwannoma 31.8 NF2 NF1 KIT
38 cellular schwannoma 31.8 NF2 NF1 KIT
39 horner's syndrome 31.8 SDHD SDHB NF1
40 sturge-weber syndrome 31.8 RASA1 NF2 NF1
41 epidural spinal canal neoplasm 31.7 NF2 NF1
42 cardiofaciocutaneous syndrome 1 31.7 RASA2 RASA1 PTPN11 NF1
43 cowden syndrome 1 31.7 SDHD SDHB RET RASA1 PMS2 NF1
44 skeletal muscle cancer 31.7 NF1 KIT EWSR1
45 malignant dermis tumor 31.7 NF1 KIT
46 epithelioid malignant peripheral nerve sheath tumor 31.7 NF1 EWSR1
47 duodenum cancer 31.7 PMS2 NF1 MSH6
48 vulvar melanoma 31.7 NF1 KIT
49 small intestine leiomyoma 31.7 PDGFRA NF2 NF1 KIT
50 malignant skin fibrous histiocytoma 31.7 NF1 KIT

Graphical network of the top 20 diseases related to Neurofibromatosis, Type I:



Diseases related to Neurofibromatosis, Type I

Symptoms & Phenotypes for Neurofibromatosis, Type I

Human phenotypes related to Neurofibromatosis, Type I:

58 30 (show top 50) (show all 128)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
2 specific learning disability 58 30 Very rare (1%) Frequent (79-30%)
HP:0001328
3 lisch nodules 58 30 Very rare (1%) Frequent (79-30%)
HP:0009737
4 cafe-au-lait spot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000957
5 delayed puberty 30 Hallmark (90%) HP:0000823
6 intellectual disability, mild 30 Hallmark (90%) HP:0001256
7 melanocytic nevus 30 Hallmark (90%) HP:0000995
8 multiple lipomas 30 Hallmark (90%) HP:0001012
9 subcutaneous nodule 30 Hallmark (90%) HP:0001482
10 multiple cafe-au-lait spots 30 Very rare (1%) HP:0007565
11 meningioma 30 Hallmark (90%) HP:0002858
12 generalized hyperpigmentation 30 Hallmark (90%) HP:0007440
13 astrocytoma 30 Hallmark (90%) HP:0009592
14 plexiform neurofibroma 30 Very rare (1%) HP:0009732
15 macrocephaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0000256
16 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001252
17 coarse facial features 58 30 Frequent (33%) Frequent (79-30%)
HP:0000280
18 genu valgum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002857
19 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
HP:0007018
20 broad neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000475
21 joint hypermobility 58 30 Frequent (33%) Frequent (79-30%)
HP:0001382
22 headache 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002315
23 bone cyst 58 30 Frequent (33%) Frequent (79-30%)
HP:0012062
24 large hands 58 30 Frequent (33%) Frequent (79-30%)
HP:0001176
25 brain imaging abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0410263
26 long foot 58 30 Frequent (33%) Frequent (79-30%)
HP:0001833
27 proportionate tall stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0011407
28 speech articulation difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0009088
29 subcutaneous neurofibromas 58 30 Frequent (33%) Frequent (79-30%)
HP:0100698
30 axillary freckling 58 30 Very rare (1%) Frequent (79-30%)
HP:0000997
31 inguinal freckling 58 30 Very rare (1%) Frequent (79-30%)
HP:0030052
32 neurological speech impairment 30 Frequent (33%) HP:0002167
33 ataxia 30 Frequent (33%) HP:0001251
34 hearing impairment 30 Frequent (33%) HP:0000365
35 skeletal dysplasia 30 Frequent (33%) HP:0002652
36 cryptorchidism 30 Frequent (33%) HP:0000028
37 slender long bone 30 Frequent (33%) HP:0003100
38 recurrent fractures 30 Frequent (33%) HP:0002757
39 proptosis 30 Frequent (33%) HP:0000520
40 heterochromia iridis 30 Frequent (33%) HP:0001100
41 paresthesia 30 Frequent (33%) HP:0003401
42 tall stature 30 Frequent (33%) HP:0000098
43 freckling 30 Frequent (33%) HP:0001480
44 memory impairment 30 Frequent (33%) HP:0002354
45 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
46 seizure 58 30 Very rare (1%) Occasional (29-5%)
HP:0001250
47 scoliosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0002650
48 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
49 hydrocephalus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000238
50 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly
sphenoid dysplasia

Neurologic Central Nervous System:
hydrocephalus
aqueductal stenosis
learning disabilities (30%)
mental retardation, mild (10%)

Head And Neck Eyes:
hypertelorism
glaucoma
lisch nodules (iris hamartomas)
hyperreflective choroidal spots in the posterior pole

Skin Nails Hair Skin:
plexiform neurofibroma
neurofibromas
axillary freckling
inguinal freckling
cafe-au-lait spots

Skeletal Spine:
scoliosis
spina bifida

Cardiovascular Vascular:
hypertension
renal artery stenosis

Neoplasia:
rhabdomyosarcoma
meningioma
pheochromocytoma
parathyroid adenoma
neurofibrosarcoma
more
Skeletal Limbs:
pseudoarthrosis
thinning of long bone cortex
local bony overgrowth

Clinical features from OMIM®:

162200 (Updated 08-Dec-2022)

UMLS symptoms related to Neurofibromatosis, Type I:


neuralgia

GenomeRNAi Phenotypes related to Neurofibromatosis, Type I according to GeneCards Suite gene sharing:

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.05 PDGFRA
2 Decreased viability GR00221-A-1 10.05 KIT NF1 PDGFRA RET SDHD VHL
3 Decreased viability GR00221-A-2 10.05 NF1 RET SDHD VHL
4 Decreased viability GR00221-A-3 10.05 PDGFRA RASA1
5 Decreased viability GR00221-A-4 10.05 NF1 PDGFRA RET SDHD RASA1 RASA2
6 Decreased viability GR00249-S 10.05 NF1 PDGFRA SDHD VHL
7 Decreased viability GR00301-A 10.05 KIT RET VHL
8 Decreased viability GR00381-A-1 10.05 SDHD RASA1
9 Decreased viability GR00386-A-1 10.05 NF1 RASA1
10 Decreased viability GR00402-S-2 10.05 PDGFRA RET
11 Increased sensitivity to paclitaxel GR00112-A-0 8.65 VHL

MGI Mouse Phenotypes related to Neurofibromatosis, Type I:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 10.42 ERG EWSR1 KIT MSH6 NF1 NF2
2 homeostasis/metabolism MP:0005376 10.39 ERG EWSR1 KIT MSH6 NF1 NF2
3 normal MP:0002873 10.31 ERG EWSR1 KIT NF1 OMG PDGFRA
4 growth/size/body region MP:0005378 10.31 CRLF3 ERG EWSR1 KIT NF1 NF2
5 endocrine/exocrine gland MP:0005379 10.26 ERG EWSR1 KIT NF1 NF2 PDGFRA
6 cellular MP:0005384 10.21 ERG EWSR1 KIT MSH6 NF1 PDGFRA
7 muscle MP:0005369 10.19 EWSR1 KIT NF1 PDGFRA PTPN11 RASA1
8 immune system MP:0005387 10.17 CRLF3 ERG EWSR1 KIT MSH6 NF1
9 embryo MP:0005380 10.16 ERG KIT NF1 NF2 PDGFRA PTPN11
10 renal/urinary system MP:0005367 10.15 EWSR1 KIT NF1 NF2 PDGFRA RET
11 limbs/digits/tail MP:0005371 10.13 EWSR1 KIT NF1 PDGFRA PTPN11 RASA1
12 no phenotypic analysis MP:0003012 10.1 KIT OMG PDGFRA PTPN11 RASA1 RET
13 digestive/alimentary MP:0005381 10.09 KIT NF1 NF2 PDGFRA PMS2 PTPN11
14 hematopoietic system MP:0005397 10.03 CRLF3 ERG EWSR1 KIT MSH6 NF1
15 pigmentation MP:0001186 9.98 KIT NF1 NF2 PDGFRA PTPN11
16 reproductive system MP:0005389 9.96 ERG EWSR1 KIT NF1 NF2 PDGFRA
17 craniofacial MP:0005382 9.95 KIT NF1 NF2 PDGFRA PTPN11 RASA1
18 mortality/aging MP:0010768 9.83 ERG EWSR1 KIT MSH6 NF1 NF2
19 integument MP:0010771 9.28 ERG EWSR1 KIT MSH6 NF1 NF2

Drugs & Therapeutics for Neurofibromatosis, Type I

Drugs for Neurofibromatosis, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 146)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Trametinib Approved Phase 4 871700-17-3 11707110
4
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760
5 Central Nervous System Stimulants Phase 4
6 Dopamine Uptake Inhibitors Phase 4
7 Dopamine Agents Phase 4
8 Neurotransmitter Agents Phase 4
9
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
10
Carboplatin Approved Phase 3 41575-94-4 10339178 38904
11
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
12
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 2, Phase 3 55-56-1 2713 9552079
13
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
14 Antimitotic Agents Phase 3
15 Tubulin Modulators Phase 3
16 Hormones Phase 2, Phase 3
17 Calcium, Dietary Phase 2, Phase 3
18 Antipsychotic Agents Phase 2, Phase 3
19 Sodium Channel Blockers Phase 2, Phase 3
20 Psychotropic Drugs Phase 2, Phase 3
21 Anticonvulsants Phase 2, Phase 3
22 calcium channel blockers Phase 2, Phase 3
23 Chlorhexidine gluconate Phase 2, Phase 3
24 Diuretics, Potassium Sparing Phase 2, Phase 3
25
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
26
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
27
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
28
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
29
Diclofenac Approved, Vet_approved Phase 2 15307-86-5, 15307-79-6 3033
30
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
31
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
32
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908
33
Bevacizumab Approved, Investigational Phase 2 216974-75-3 135329020
34
Vinblastine Approved Phase 2 865-21-4 241903 13342
35
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
36
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
37
Etoposide Approved Phase 2 33419-42-0 36462
38
Lenograstim Approved, Investigational Phase 2 135968-09-1
39
Ifosfamide Approved Phase 2 3778-73-2 3690
40
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
41
Lactitol Approved, Investigational Phase 2 585-86-4 157355
42
Aminolevulinic acid Approved Phase 2 106-60-5 137
43
Caffeine Approved Phase 2 58-08-2 2519
44
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
45
Dimethyl sulfoxide Approved, Vet_approved Phase 1, Phase 2 67-68-5 679
46
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
47
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
48
Doxycycline Approved, Investigational, Vet_approved Phase 1, Phase 2 564-25-0 54671203
49
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
50
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189

Interventional clinical trials:

(show top 50) (show all 191)
# Name Status NCT ID Phase Drugs
1 Comportemental and Neuropsychologic Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate. A Double-blind Randomised Study Methylphenidate Versus Placebo Completed NCT00169611 Phase 4 methylphenidate
2 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Recruiting NCT03975829 Phase 4 dabrafenib;trametinib
3 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain: A Phase III Clinical Trial Completed NCT02471339 Phase 3
4 A Phase III, Multicentre, International Study With a Parallel, Randomised, Double-blind, Placebo-controlled, 2 Arm Design to Assess the Efficacy and Safety of Selumetinib in Adult Participants With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas (KOMET) Recruiting NCT04924608 Phase 3 Selumetinib
5 A Phase 3 Randomized Study of Selumetinib Versus Carboplatin/Vincristine in Newly Diagnosed or Previously Untreated Neurofibromatosis Type 1 (NF1) Associated Low-Grade Glioma (LGG) Recruiting NCT03871257 Phase 3 Carboplatin;Selumetinib Sulfate;Vincristine Sulfate
6 A Parallel-group, Two-staged, Phase 2/3, Randomized, Multicenter Study to Evaluate the Efficacy and Safety of REC-2282 in Participants With Progressive NF2 Mutated Meningiomas Recruiting NCT05130866 Phase 2, Phase 3 REC-2282;Placebo
7 A Phase 3 Randomized Non-Inferiority Study of Carboplatin and Vincristine Versus Selumetinib (NSC# 748727) in Newly Diagnosed or Previously Untreated Low-Grade Glioma (LGG) Not Associated With BRAFV600E Mutations or Systemic Neurofibromatosis Type 1 (NF1) Recruiting NCT04166409 Phase 3 Carboplatin;Selumetinib Sulfate;Vincristine Sulfate
8 The Effect of Lamotrigine on Cognitive Deficits Associated With Neurofibromatosis Type 1: a Phase II Randomized Controlled Multi-centre Trial (NF1-EXCEL) Terminated NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
9 A Long-term Study of NPC-12G Gel in Neurofibromatosis Type I Terminated NCT04461886 Phase 3 NPC-12G gel
10 Medical Treatment of "High-Risk" Neurofibromas in Patients With Type 1 Neurofibromatosis: A Clinical Trial of Sequential Medical Therapies Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
11 Clinical Assessment of the Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With Neurofibromatosis Type 1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
12 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
13 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
14 A Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Phase 2a Study to Determine Safety, Tolerability, Pharmacokinetics, and Pharmacodynamic Activity of NFX-179 Gel in Subjects With Cutaneous Neurofibromas Completed NCT04435665 Phase 2 NFX-179 Gel;Vehicle Gel
15 Recombinant Human Endostatin Injection Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors by Continuous Intravenous Pumping Completed NCT02104323 Phase 2 Endostatin
16 A Phase 2 Trial of the MEK Inhibitor PD-0325901 in Adolescents and Adults With NF1-Associated Morbid Plexiform Neurofibromas Completed NCT02096471 Phase 2 PD-0325901
17 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
18 Phase II Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Completed NCT02129647 Phase 2 Axitinib
19 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
20 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
21 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
22 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Completed NCT01125046 Phase 2
23 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
24 A Phase II Randomized, Cross-Over, Double-Blinded, Placebo-Controlled Trial of the Farnesyltransferase Inhibitor R115777 in Pediatric Patients With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
25 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
26 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
27 Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated High Grade Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
28 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
29 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
30 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
31 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
32 Open-label, Phase 2 Study of Bevacizumab in Children and Young Adults With Neurofibromatosis 2 and Progressive Vestibular Schwannomas That Are Poor Candidates for Standard Treatment With Surgery or Radiation Completed NCT01767792 Phase 2 Bevacizumab
33 A Single Arm, Single Center, Phase II Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis Type 2 - Related Vestibular Schwannoma Completed NCT01490476 Phase 2 RAD001
34 A Single Arm, Multicenter Phase II a Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas That Cannot be Removed by Surgery Completed NCT01412892 Phase 2 RAD001: Everolimus
35 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02934256 Phase 2 Icotinib
36 A Single Arm Phase 2 Study of the Dual mTORC1/mTORC2 Inhibitor AZD2014 Provided on an Intermittent Schedule for Neurofibromatosis 2 Patients With Progressive or Symptomatic Meningiomas Completed NCT02831257 Phase 2 AZD2014
37 Phase 2 Study of the mTOR Inhibitor Everolimus in Combination With Bevacizumab in Patients With Sporadic and Neurofibromatosis Type 1 (NF1) Related Refractory Malignant Peripheral Nerve Sheath Tumors Completed NCT01661283 Phase 2 everolimus;bevacizumab
38 A Phase I/II Study of the Cyclin-Dependent Kinase(CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type 1 (NF1) Related Atypical Neurofibromas Recruiting NCT04750928 Phase 1, Phase 2 Abemaciclib
39 Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II Recruiting NCT02728388 Phase 2 aminolevulinic acid
40 Antioxidant Therapy With N-acetylcysteine for Motor Behavior and/or Learning in Children With Neurofibromatosis Type 1 Recruiting NCT04481048 Phase 2 N-Acetyl cysteine
41 A Multi-center, Open-label, Single-arm Phase II Study to Evaluate the Efficacy and Safety of HL-085 in the Treatment of Adult Participants With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Recruiting NCT05331105 Phase 2 HL-085
42 A Multi-center, Open-label, Single-arm Phase I Dose-escalation and Phase II Dose-expansion Study to Evaluate the Safety, Tolerability, PK Characteristics and Anti-tumor Activity of FCN-159 in Adult and Pediatric Participants With Neurofibromatosis Type 1 Recruiting NCT04954001 Phase 1, Phase 2 FCN-159
43 A Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Phase 2 Dose-Response Study to Determine Safety and Effectiveness of Two Concentrations of NFX-179 Gel in Subjects With Cutaneous Neurofibromas Recruiting NCT05005845 Phase 2 NFX-179 gel;Vehicle gel
44 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) Recruiting NCT04374305 Phase 2 Brigatinib;Neratinib
45 Phase I/II Trial of Dabrafenib, Trametinib, and Hydroxychloroquine (HCQ) for BRAF V600E-mutant or Trametinib and HCQ for BRAF Fusion/Duplication Positive or NF1-associated Recurrent or Progressive Gliomas in Children and Young Adults Recruiting NCT04201457 Phase 1, Phase 2 Dabrafenib;Trametinib;Hydroxychloroquine
46 Doxycycline Injection of Cutaneous Schwannoma in Neurofibromatosis Type 2 Recruiting NCT05521048 Phase 1, Phase 2 Doxycycline Injection [Doxy]
47 Immunotherapy Targeting Neurofibromatosis or Schwannomatosis Recruiting NCT04085159 Phase 1, Phase 2
48 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
49 A Paediatric Phase I/II Study Of Intermittent Dosing Of The Mek-1 Inhibitor Selumetinib In Children With Neurofibromatosis Type-1 And Inoperable Plexiform Neurofibroma And/Or Progressive Optic Pathway Glioma Recruiting NCT03326388 Phase 1, Phase 2 Selumetinib
50 Neurobiology and Treatment of Reading Disability in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet

Search NIH Clinical Center for Neurofibromatosis, Type I

Cochrane evidence based reviews: neurofibromatosis 1

Genetic Tests for Neurofibromatosis, Type I

Genetic tests related to Neurofibromatosis, Type I:

# Genetic test Affiliating Genes
1 Neurofibromatosis, Type 1 28 NF1
2 Neurofibromatosis Type 1 Due to Nf1 Mutation or Intragenic Deletion 28

Anatomical Context for Neurofibromatosis, Type I

Organs/tissues related to Neurofibromatosis, Type I:

MalaCards : Skin, Eye, Bone, Brain, Cortex, Spinal Cord, Heart
ODiseA: Kidney

Publications for Neurofibromatosis, Type I

Articles related to Neurofibromatosis, Type I:

(show top 50) (show all 8595)
# Title Authors PMID Year
1
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. 62 24 57 5
12483293 2003
2
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. 62 57 5
24232412 2014
3
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. 62 57 5
17426081 2007
4
Double inactivation of NF1 in tibial pseudarthrosis. 62 57 5
16773574 2006
5
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 62 57 5
15520408 2004
6
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1. 62 57 5
14605872 2004
7
Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers. 62 57 5
14635100 2003
8
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. 62 57 5
12522551 2003
9
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations. 62 57 5
11409870 2001
10
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. 62 57 5
11115850 2000
11
Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. 62 57 5
10677298 2000
12
A search for evidence of somatic mutations in the NF1 gene. 62 57 5
10633134 2000
13
Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. 62 57 5
9783703 1998
14
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 62 57 5
9668168 1998
15
Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. 62 57 5
9180088 1997
16
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 62 57 5
9003501 1997
17
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. 62 57 5
8544190 1995
18
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. 62 57 5
7655472 1995
19
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. 62 57 5
8116612 1994
20
Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 62 57 5
1302608 1992
21
A de novo Alu insertion results in neurofibromatosis type 1. 62 57 5
1719426 1991
22
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. 62 24 5
31595648 2020
23
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. 62 24 5
31370276 2019
24
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 62 24 5
29290338 2018
25
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 62 24 5
27838393 2017
26
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 62 24 5
26178382 2015
27
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. 62 24 5
25370043 2015
28
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. 62 24 5
26056819 2015
29
The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features. 62 24 5
25211147 2015
30
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? 62 24 5
25074460 2015
31
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 62 24 5
25325900 2014
32
Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism. 62 24 5
23621909 2014
33
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 62 24 5
23656349 2014
34
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. 62 24 5
24357598 2014
35
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 62 24 5
23913538 2013
36
Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation. 62 24 5
19863548 2010
37
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 57 5
17406642 2007
38
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. 62 24 5
16380919 2005
39
Heterozygous mutations of OTX2 cause severe ocular malformations. 57 5
15846561 2005
40
NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 57 5
12746402 2003
41
Malignant peripheral nerve sheath tumours in neurofibromatosis 1. 62 24 57
12011145 2002
42
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. 62 24 57
11078559 2000
43
Two independent mutations in a family with neurofibromatosis type 1 (NF1). 62 24 5
10076878 1999
44
Screening for truncated NF1 proteins. 57 5
7874161 1994
45
Neurofibromatosis associated with malignant neurofibromas. 57 5
4633999 1973
46
Neurofibromatosis type 1 revisited. 53 62 57
19117870 2009
47
Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia. 53 62 5
17889038 2008
48
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing. 53 62 5
18041031 2007
49
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 53 62 5
16835897 2006
50
Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. 53 62 5
16513807 2006

Variations for Neurofibromatosis, Type I

ClinVar genetic disease variations for Neurofibromatosis, Type I:

5 (show top 50) (show all 8551)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF1 NM_001042492.3(NF1):c.4546G>T (p.Glu1516Ter) SNV Pathogenic
216064 rs786203390 GRCh37: 17:29587502-29587502
GRCh38: 17:31260484-31260484
2 NF1 NM_000267.3(NF1):c.3496+57_4772+2639dup DUP Pathogenic
217111 GRCh37: 17:29559956-29594996
GRCh38: 17:31232938-31267978
3 NF1 and overlap with 1 gene(s) NM_000267.3(NF1):c.655-60_888+5621delins135 INDEL Pathogenic
217051 GRCh37: 17:29508668-29515304
GRCh38: 17:31181650-31188286
4 NF1 NM_000267.3(NF1):c.1527+443_3709-761dup DUP Pathogenic
217108 GRCh37: 17:29542046-29561868
GRCh38: 17:31215028-31234850
5 NF1 NM_001042492.3(NF1):c.7970+149_8160+723dup DUP Pathogenic
217114 GRCh37: 17:29684534-29684535
GRCh38: 17:31357516-31357517
6 NF1 NM_000267.3(NF1):c.4773-23713_7907+14del DEL Pathogenic
217088 GRCh37:
GRCh38:
7 NF1 NM_001042492.3(NF1):c.1846-496_2410-645delinsTAGC INDEL Pathogenic
217068 GRCh37: 17:29551617-29555398
GRCh38: 17:31224599-31228380
8 NF1 NM_001042492.3(NF1):c.5813-460_6006+244del DEL Pathogenic
217091 rs1555534307 GRCh37: 17:29661395-29662292
GRCh38: 17:31334377-31335274
9 NF1 and overlap with 1 gene(s) NM_000267.3(NF1):c.586+3099_1261-1045del DEL Pathogenic
217048 GRCh37: 17:29500114-29532213
GRCh38: 17:31173096-31205195
10 NF1 NM_000267.3(NF1):c.1846-613_4773-1009delinsTTAGGTTTAT INDEL Pathogenic
217071 GRCh37:
GRCh38:
11 NF1 NM_000267.3(NF1):c.480-134_8315-6206del DEL Pathogenic
217045 GRCh37:
GRCh38:
12 NF1 and overlap with 1 gene(s) NM_000267.3(NF1):c.7000-499_7908-479del DEL Pathogenic
217100 GRCh37: 17:29669528-29685019
GRCh38: 17:31342510-31358001
13 NF1 NM_001042492.3(NF1):c.3709-941_3974+2711del DEL Pathogenic
217074 GRCh37: 17:29561647-29565709
GRCh38: 17:31234629-31238691
14 NF1 NM_000267.3(NF1):c.4368-391_4515-122delins105 INDEL Pathogenic
217080 GRCh37: 17:29586996-29588607
GRCh38: 17:31259978-31261589
15 NF1 NM_000267.3(NF1):c.888+5515_1261-1635del DEL Pathogenic
217054 GRCh37: 17:29515198-29531623
GRCh38: 17:31188180-31204605
16 NF1 NM_000267.3:c.3975-1046_4110+902deins333 INSERT Pathogenic
217077 GRCh37:
GRCh38:
17 NF1 NM_001042492.3(NF1):c.5813-374_6007-176del DEL Pathogenic
217094 GRCh37: 17:29661481-29663174
GRCh38: 17:31334463-31336156
18 NF1 and overlap with 3 gene(s) NM_000267.3(NF1):c.61-16315_479+99del DEL Pathogenic
217034 GRCh37: 17:29466686-29490493
GRCh38: 17:31139668-31163475
19 NF1 NM_000267.3(NF1):c.888+8334_1721+34delinsTC INDEL Pathogenic
217057 GRCh37: 17:29518017-29548981
GRCh38: 17:31190999-31221963
20 NF1 NM_000267.3(NF1):c.5749+189_6999+1035del DEL Pathogenic
217097 GRCh37: 17:29657705-29668698
GRCh38: 17:31330687-31341680
21 NF1 and overlap with 2 gene(s) NM_001042492.3(NF1):c.205-1284_289-944del DEL Pathogenic
217037 GRCh37: 17:29484707-29489223
GRCh38: 17:31157689-31162205
22 NF1 NM_000267.3(NF1):c.889-1633_7395-667del DEL Pathogenic
217060 GRCh37:
GRCh38:
23 NF1 NM_001042492.3(NF1):c.1528-960_1761del DEL Pathogenic
217066 GRCh37: 17:29545061-29550499
GRCh38: 17:31218043-31223481
24 NF1 and overlap with 1 gene(s) NM_000267.3(NF1):c.289-956_586+4999del DEL Pathogenic
217040 GRCh37: 17:29489248-29502014
GRCh38: 17:31162230-31174996
25 NF1 NM_000267.3:c.7566_8314+3321_delinsCGCCACGGC INSERT Pathogenic
217103 GRCh37:
GRCh38:
26 NF1 NM_001042492.3(NF1):c.480-2989_586+3445del DEL Pathogenic
217043 GRCh37: 17:29493920-29500460
GRCh38: 17:31166902-31173442
27 NF1 NM_000267.3(NF1):c.4661+1660_4773-8837del DEL Pathogenic
217083 GRCh37:
GRCh38:
28 NF1 and overlap with 2 gene(s) NM_000267.3(NF1):c.289-1171_888+1963dup DUP Pathogenic
217106 GRCh37: 17:29489033-29511646
GRCh38: 17:31162015-31184628
29 NF1 and overlap with 1 gene(s) NM_001042492.3(NF1):c.587-1766_888+1856del DEL Pathogenic
217046 GRCh37: 17:29506671-29511536
GRCh38: 17:31179653-31184518
30 NF1 NM_001042492.3(NF1):c.1393-2488_1642-648delinsAATAG INDEL Pathogenic
217063 GRCh37: 17:29538981-29548220
GRCh38: 17:31211963-31221202
31 NF1 NM_000267.3(NF1):c.4773-2116_7127-1817delinsAGTTACC INDEL Pathogenic
217086 GRCh37: 17:29650722-29674321
GRCh38: 17:31323704-31347303
32 NF1 NM_001042492.3(NF1):c.2252-70_2326-39dup DUP Pathogenic
217109 rs1555613896 GRCh37: 17:29554163-29554164
GRCh38: 17:31227145-31227146
33 NF1 and overlap with 2 gene(s) NM_001042492.3(NF1):c.61-5189_205-1285del DEL Pathogenic
217032 GRCh37: 17:29477812-29484743
GRCh38: 17:31150794-31157725
34 NF1 NM_001042492.3(NF1):c.5609+336_6006+244del DEL Pathogenic
217089 GRCh37: 17:29655193-29662293
GRCh38: 17:31328175-31335275
35 NF1 NM_001042492.3(NF1):c.5813-1748_6247delinsCTA INDEL Pathogenic
217095 GRCh37: 17:29660108-29663752
GRCh38: 17:31333090-31336734
36 NF1 NM_001042492.3(NF1):c.1988_2410-218delinsTGTC INDEL Pathogenic
217069 GRCh37: 17:29552255-29555825
GRCh38: 17:31225237-31228807
37 NF1 NM_001042492.3(NF1):c.5812+750_6006+244del DEL Pathogenic
217092 GRCh37: 17:29658266-29662293
GRCh38: 17:31331248-31335275
38 NF1 NM_000267.3(NF1):c.586+1209_1845+35del DEL Pathogenic
217049 GRCh37:
GRCh38:
39 NF1 and overlap with 3 gene(s) NM_000267.3(NF1):c.2048_5041del DEL Pathogenic
217072 GRCh37: 17:29553499-29653041
GRCh38:
40 NF1 and overlap with 3 gene(s) NM_000267.3(NF1):c.4110+1791_7394+859dup DUP Pathogenic
217112 GRCh37: 17:29577928-29678195
GRCh38: 17:31250910-31351177
41 NF1 NM_000267.3(NF1):c.731-302_8314+3681del DEL Pathogenic
217052 GRCh37:
GRCh38:
42 NF1 NM_000267.3(NF1):c.3708+598_4772+16224del DEL Pathogenic
217075 GRCh37: 17:29560829-29608581
GRCh38: 17:31233811-31281563
43 NF1 NM_000267.3(NF1):c.4662-1076_4772+1300delins260 INDEL Pathogenic
217081 GRCh37: 17:29591171-29593657
GRCh38: 17:31264153-31266639
44 NF1 NM_000267.3(NF1):c.889-8107_1261-278del DEL Pathogenic
217055 GRCh37: 17:29519333-29532980
GRCh38: 17:31192315-31205962
45 NF1 NM_000267.3(NF1):c.7884_8315-5528del DEL Pathogenic
217104 GRCh37: 17:29684364-29695503
GRCh38: 17:31357346-31368485
46 NF1 NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT INDEL Pathogenic
217078 GRCh37: 17:29574080-29582914
GRCh38: 17:31247062-31255896
47 NF1 NM_000267.3(NF1):c.60+24136_587-5022del DEL Pathogenic
217035 GRCh37:
GRCh38:
48 NF1 NM_000267.3(NF1):c.888+3798_5750-2053del DEL Pathogenic
217058 GRCh37:
GRCh38:
49 NF1 NM_000267.3(NF1):c.5943+265_7000-999delins15 INDEL Pathogenic
217098 GRCh37: 17:29662314-29669028
GRCh38: 17:31335296-31342010
50 NF1 NM_000267.3(NF1):c.204+155_2990+53del DEL Pathogenic
217038 GRCh37:
GRCh38:

UniProtKB/Swiss-Prot genetic disease variations for Neurofibromatosis, Type I:

73 (show top 50) (show all 79)
# Symbol AA change Variation ID SNP ID
1 NF1 p.Gly629Arg VAR_002653 rs199474738
2 NF1 p.Leu844Arg VAR_002654 rs137854566
3 NF1 p.Leu898Pro VAR_002655 rs199474786
4 NF1 p.Met1035Arg VAR_002657 rs137854553
5 NF1 p.Lys1440Arg VAR_002658 rs199474788
6 NF1 p.Lys1444Glu VAR_002659 rs137854550
7 NF1 p.Arg1611Trp VAR_002660 rs1060500316
8 NF1 p.Trp1952Arg VAR_002662 rs199474791
9 NF1 p.Leu1953Pro VAR_002663 rs199474792
10 NF1 p.Leu2164Met VAR_002664 rs137854551
11 NF1 p.Tyr2192Asn VAR_002665 rs267606598
12 NF1 p.Thr2631Ala VAR_002667 rs199474793
13 NF1 p.Leu1446Pro VAR_008129 rs199474733
14 NF1 p.Ile117Ser VAR_010989 rs199474731
15 NF1 p.Asp338Gly VAR_010990 rs199474773
16 NF1 p.Leu508Pro VAR_010991 rs137854558
17 NF1 p.Leu844Phe VAR_010992 rs199474785
18 NF1 p.Gly1166Asp VAR_010993 rs199474787
19 NF1 p.Arg1204Trp VAR_010994 rs199474732
20 NF1 p.Arg1276Pro VAR_010995 rs137854556
21 NF1 p.Arg1412Ser VAR_010996 rs137854554
22 NF1 p.Lys1440Gln VAR_010997 rs199474790
23 NF1 p.Ser1489Gly VAR_010998 rs199474743
24 NF1 p.Cys93Tyr VAR_017551 rs199474728
25 NF1 p.Leu604Val VAR_017553 rs142712751
26 NF1 p.Arg1276Gln VAR_017555 rs137854556
27 NF1 p.Ser82Phe VAR_021730 rs199474729
28 NF1 p.Ile157Asn VAR_021731 rs199474744
29 NF1 p.Leu216Pro VAR_021732 rs199474756
30 NF1 p.Leu357Pro VAR_021733 rs137854563
31 NF1 p.Tyr491Cys VAR_021734 rs199474757
32 NF1 p.Leu549Pro VAR_021735 rs199474758
33 NF1 p.Leu578Arg VAR_021736 rs199474774
34 NF1 p.Ile581Thr VAR_021737 rs199474759
35 NF1 p.Lys583Arg VAR_021738 rs199474760
36 NF1 p.Leu695Pro VAR_021740 rs199474761
37 NF1 p.Leu763Pro VAR_021741 rs199474762
38 NF1 p.Trp777Ser VAR_021743 rs199474745
39 NF1 p.Thr780Lys VAR_021744 rs199474746
40 NF1 p.His781Pro VAR_021745 rs199474763
41 NF1 p.Trp784Cys VAR_021746 rs199474778
42 NF1 p.Trp784Arg VAR_021747 rs199474730
43 NF1 p.Leu847Pro VAR_021748 rs199474747
44 NF1 p.Gly848Glu VAR_021749 rs199474748
45 NF1 p.Leu920Pro VAR_021750 rs199474775
46 NF1 p.Met968Arg VAR_021751 rs199474749
47 NF1 p.Leu1147Pro VAR_021752 rs199474779
48 NF1 p.Asn1156Ser VAR_021753 rs199474764
49 NF1 p.Phe1193Cys VAR_021754 rs199474780
50 NF1 p.Arg1204Gly VAR_021755 rs199474732

Copy number variations for Neurofibromatosis, Type I from CNVD:

6 (show all 42)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 108865 17 23200000 28800000 Microdeletion Neurofibromatosis type 1
2 108866 17 23200000 28800000 Microdeletion ATAD5 Neurofibromatosis type 1
3 108868 17 23200000 28800000 Microdeletion TEFM Neurofibromatosis type 1
4 108869 17 23200000 28800000 Microdeletion COPRS Neurofibromatosis type 1
5 108870 17 23200000 28800000 Microdeletion ADAP2 Neurofibromatosis type 1
6 108871 17 23200000 28800000 Microdeletion CRLF3 Neurofibromatosis type 1
7 108872 17 23200000 28800000 Microdeletion DPRXP4 Neurofibromatosis type 1
8 108873 17 23200000 28800000 Microdeletion EVI2A Neurofibromatosis type 1
9 108874 17 23200000 28800000 Microdeletion EVI2B Neurofibromatosis type 1
10 108875 17 23200000 28800000 Microdeletion Neurofibromatosis type 1
11 108876 17 23200000 28800000 Microdeletion Neurofibromatosis type 1
12 108877 17 23200000 28800000 Microdeletion Neurofibromatosis type 1
13 108878 17 23200000 28800000 Microdeletion LRRC37B Neurofibromatosis type 1
14 108879 17 23200000 28800000 Microdeletion LRRC37BP1 Neurofibromatosis type 1
15 108880 17 23200000 28800000 Microdeletion MIR193A Neurofibromatosis type 1
16 108881 17 23200000 28800000 Microdeletion MIR365B Neurofibromatosis type 1
17 108882 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
18 108883 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
19 108884 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
20 108885 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
21 108886 17 23200000 28800000 Microdeletion OMG Neurofibromatosis type 1
22 108887 17 23200000 28800000 Microdeletion RAB11FIP4 Neurofibromatosis type 1
23 108888 17 23200000 28800000 Microdeletion RNF135 Neurofibromatosis type 1
24 108889 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
25 108890 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
26 108891 17 23200000 28800000 Microdeletion SUZ12P1 Neurofibromatosis type 1
27 108892 17 23200000 28800000 Microdeletion SUZ12P1 Neurofibromatosis type 1
28 108893 17 23200000 28800000 Microdeletion UTP6 Neurofibromatosis type 1
29 108894 17 23200000 28800000 Microdeletion or microduplication NF1 Neurofibromatosis type 1
30 109395 17 25800000 31800000 Deletion NF1 Neurofibromatosis type 1
31 109408 17 25800000 31800000 Copy number NF1 Neurofibromatosis type 1
32 109504 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
33 109505 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
34 109506 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
35 109522 17 26576214 26734130 Deletion EVI2A Neurofibromatosis type 1
36 109523 17 26576214 26734130 Deletion EVI2B Neurofibromatosis type 1
37 109524 17 26576214 26734130 Deletion NF1 Neurofibromatosis type 1
38 109525 17 26576214 26734130 Deletion OMG Neurofibromatosis type 1
39 109526 17 26576214 26734130 Deletion RAB11FIP4 Neurofibromatosis type 1
40 109605 17 27245834 27562095 Deletion LRRC37B Neurofibromatosis type 1
41 109606 17 27245834 27562095 Deletion RHOT1 Neurofibromatosis type 1
42 109607 17 27245834 27562095 Deletion SUZ12 Neurofibromatosis type 1

Expression for Neurofibromatosis, Type I

Search GEO for disease gene expression data for Neurofibromatosis, Type I.

Pathways for Neurofibromatosis, Type I

Pathways related to Neurofibromatosis, Type I according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1 13.43 VHL RET RASA2 RASA1 PTPN11 PDGFRA
2
Show member pathways
13.27 RASA2 RASA1 PTPN11 PDGFRA NF2 NF1
3
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13.07 KIT NF1 PDGFRA PTPN11 RASA1 RASA2
4
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12.29 RASA2 RASA1 NF2 NF1
5
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11.79 RASA1 PTPN11 KIT
6
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11.72 SDHD SDHC SDHB
7
Show member pathways
11.63 PDGFRA NF2 KIT
8
Show member pathways
11.6 SDHD SDHC SDHB
9
Show member pathways
11.57 RASA1 PTPN11 PDGFRA
10
Show member pathways
11.5 RET RASA1 PTPN11
11 11.36 RASA2 RASA1 PTPN11 PDGFRA NF1 KIT
12
Show member pathways
11.2 RASA2 RASA1 NF1
13
Show member pathways
10.84 RASA2 RASA1 NF1
14 10.27 RET KIT
15
Show member pathways
10.21 SDHD SDHC SDHB

GO Terms for Neurofibromatosis, Type I

Cellular components related to Neurofibromatosis, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.1 SDHD SDHC SDHB

Biological processes related to Neurofibromatosis, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tricarboxylic acid cycle GO:0006099 9.8 SDHD SDHC SDHB
2 negative regulation of Schwann cell proliferation GO:0010626 9.73 NF2 NF1
3 mast cell proliferation GO:0070662 9.67 NF1 KIT
4 regulation of MAPK cascade GO:0043408 9.58 PTPN11 NF1 KIT
5 Schwann cell proliferation GO:0014010 9.56 NF2 NF1
6 negative regulation of Ras protein signal transduction GO:0046580 9.55 RASA2 RASA1 NF1
7 negative regulation of cell-matrix adhesion GO:0001953 9.43 RASA1 NF2 NF1
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.1 SDHD SDHC SDHB

Molecular functions related to Neurofibromatosis, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.63 RET PDGFRA KIT
2 ubiquinone binding GO:0048039 9.26 SDHD SDHB
3 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHD SDHB

Sources for Neurofibromatosis, Type I

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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