NF1
MCID: NRF018
MIFTS: 67

Neurofibromatosis, Type 1 (NF1) malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Skin diseases, Fetal diseases, Rare diseases, Ear diseases

Aliases & Classifications for Neurofibromatosis, Type 1

Aliases & Descriptions for Neurofibromatosis, Type 1:

Name: Neurofibromatosis, Type 1 54 13
Neurofibromatosis 1 66 69
Von Recklinghausen Disease Due to Nf1 Mutation or Intragenic Deletion 56
Neurofibromatosis Type 1 Due to Nf1 Mutation or Intragenic Deletion 56
Neurofibromatosis Peripheral Type 66
Von Recklinghausen Syndrome 66
Von Recklinghausen Disease 66
Neurofibromatosis, Type I 54
Type 1 Neurofibromatosis 29
Nf1 66

Characteristics:

HPO:

32
neurofibromatosis, type 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 162200
Orphanet 56 ORPHA363700
ICD10 via Orphanet 34 Q85.0
MedGen 40 C0027831
MeSH 42 D009456

Summaries for Neurofibromatosis, Type 1

OMIM : 54 Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the... (162200) more...

MalaCards based summary : Neurofibromatosis, Type 1, also known as neurofibromatosis 1, is related to paraganglioma and gastric stromal sarcoma and mismatch repair cancer syndrome, and has symptoms including seizures, hypertelorism and genu valgum. An important gene associated with Neurofibromatosis, Type 1 is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Pathways in cancer and Carbon metabolism. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and eye, and related phenotypes are mortality/aging and neoplasm

UniProtKB/Swiss-Prot : 66 Neurofibromatosis 1: 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.

Related Diseases for Neurofibromatosis, Type 1

Diseases in the Neurofibromatosis family:

Neurofibromatosis, Type 1 Neurofibromatosis, Type 2

Diseases related to Neurofibromatosis, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 284)
id Related Disease Score Top Affiliating Genes
1 paraganglioma and gastric stromal sarcoma 31.0 SDHB SDHC SDHD
2 mismatch repair cancer syndrome 30.9 MLH1 MSH2 MSH6 PMS2
3 aneurysm 30.0 NF1 SDHB SDHC
4 pheochromocytoma 29.7 NF1 SDHB SDHC SDHD
5 gastrointestinal stromal tumor 29.6 KIT NF1 SDHB SDHC SDHD
6 nephrolithiasis 29.6 NF1 SPRED1
7 hidradenoma 29.0 MLH1 MSH2 MSH6 PMS2
8 zollinger-ellison syndrome 29.0 NF1 SDHB SDHC SDHD
9 neurofibromatosis 12.1
10 legius syndrome 11.6
11 malignant peripheral nerve sheath tumor 11.4
12 pilocytic astrocytoma 11.2
13 neurofibrosarcoma 11.2
14 glioblastoma 11.1
15 watson syndrome 11.1
16 insulinoma 11.1
17 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.0
18 chromosome 17q11.2 deletion syndrome 10.9
19 brain and spinal tumors 10.8
20 spinal cancer 10.8
21 soft tissue sarcoma 10.8
22 noonan syndrome 1 10.8
23 neurofibroma 10.5
24 plexiform neurofibroma 10.3
25 glioma 10.3
26 pleural cancer 10.2 NF1 SPRED1
27 optic pathway glioma 10.2
28 verrucous papilloma 10.2 KIT NF1
29 cask-related disorders 10.2 MSH6 PMS2
30 chromosome 15q11-q13 duplication syndrome 10.2 NF1 SPRED1
31 high grade b-cell lymphoma with rearrangements of myc and bcl2 and/or bcl6 10.2 KIT SPRED1
32 jejunal somatostatinoma 10.2 KIT NF1
33 meningocele 10.1
34 metachondromatosis 10.1 NF1 RASA2 SPRED1
35 larynx leiomyosarcoma 10.1 KIT SDHD
36 leukemia 10.1
37 trypanosomiasis 10.1 MLH1 MSH6
38 autoimmune autonomic ganglionopathy 10.1 MSH2 MSH6
39 cervicitis 10.1
40 bacteremia 10.1 MSH6 PMS2
41 astrocytoma 10.0
42 retinitis 10.0
43 choroiditis 10.0
44 ganglioneuroma 10.0
45 skin melanoma 10.0 MLH1 MSH2
46 aorta atresia 10.0 MLH1 MSH2
47 fibrolamellar carcinoma 10.0 MLH1 MSH2
48 familial hypopituitarism 10.0 MLH1 MSH2
49 catastrophic antiphospholipid syndrome 10.0 SDHB SDHD
50 acrocapitofemoral dysplasia 10.0 SDHB SDHD

Comorbidity relations with Neurofibromatosis, Type 1 via Phenotypic Disease Network (PDN):


Neurofibromatosis

Graphical network of the top 20 diseases related to Neurofibromatosis, Type 1:



Diseases related to Neurofibromatosis, Type 1

Symptoms & Phenotypes for Neurofibromatosis, Type 1

Symptoms by clinical synopsis from OMIM:

162200

Clinical features from OMIM:

162200

Human phenotypes related to Neurofibromatosis, Type 1:

32 (show all 29)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hypertelorism 32 HP:0000316
3 genu valgum 32 HP:0002857
4 hydrocephalus 32 HP:0000238
5 hypertension 32 HP:0000822
6 aqueductal stenosis 32 HP:0002410
7 scoliosis 32 HP:0002650
8 short stature 32 HP:0004322
9 intellectual disability, mild 32 HP:0001256
10 glaucoma 32 HP:0000501
11 pheochromocytoma 32 HP:0002666
12 specific learning disability 32 HP:0001328
13 spina bifida 32 HP:0002414
14 parathyroid adenoma 32 HP:0002897
15 astrocytoma 32 HP:0009592
16 meningioma 32 HP:0002858
17 rhabdomyosarcoma 32 HP:0002859
18 overgrowth 32 HP:0001548
19 hypsarrhythmia 32 HP:0002521
20 neurofibrosarcoma 32 HP:0100697
21 cafe-au-lait spot 32 HP:0000957
22 renal artery stenosis 32 HP:0001920
23 axillary freckling 32 HP:0000997
24 plexiform neurofibroma 32 HP:0009732
25 optic glioma 32 HP:0009734
26 spinal neurofibromas 32 HP:0009735
27 tibial pseudoarthrosis 32 HP:0009736
28 lisch nodules 32 HP:0009737
29 inguinal freckling 32 HP:0030052

UMLS symptoms related to Neurofibromatosis, Type 1:


neuralgia

MGI Mouse Phenotypes related to Neurofibromatosis, Type 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.61 KIT MLH1 MSH2 MSH6 NF1 PMS2
2 neoplasm MP:0002006 9.23 KIT MLH1 MSH2 MSH6 NF1 PMS2

Drugs & Therapeutics for Neurofibromatosis, Type 1

Drugs for Neurofibromatosis, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 185)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Everolimus Approved Phase 4,Phase 2,Phase 1,Early Phase 1 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
5
Palbociclib Approved Phase 4,Phase 2,Phase 1 571190-30-2 11431660 5005498 5330286
6
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 53123-88-9 5284616 6436030 46835353
7
Sorafenib Approved, Investigational Phase 4,Phase 2,Phase 1 284461-73-0 216239 406563
8
Sunitinib Approved, Investigational Phase 4,Phase 2 341031-54-7, 557795-19-4 5329102
9
Crizotinib Approved Phase 4,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
10
Dasatinib Approved, Investigational Phase 4,Phase 2 302962-49-8 3062316
11
Trametinib Approved Phase 4,Phase 2,Phase 1 871700-17-3 11707110
12
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
13
Ceritinib Approved Phase 4 1032900-25-6
14
Gefitinib Approved, Investigational Phase 4 184475-35-2 123631
15
Olaparib Approved Phase 4 763113-22-0 23725625
16
Ramucirumab Approved, Investigational Phase 4 947687-13-0
17
Vorinostat Approved, Investigational Phase 4 149647-78-9 5311
18
Lapatinib Approved March 2007, Investigational Phase 4,Phase 2,Early Phase 1 231277-92-2, 388082-78-8 208908 9941095
19 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Protein Kinase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
22 Central Nervous System Stimulants Phase 4
23 Dopamine Agents Phase 4
24 Dopamine Uptake Inhibitors Phase 4
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Neurotransmitter Uptake Inhibitors Phase 4
27 Antifungal Agents Phase 4,Phase 2,Phase 1,Early Phase 1
28 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29
Erlotinib Hydrochloride Phase 4,Phase 1 183319-69-9 176871
30 Imatinib Mesylate Phase 4,Phase 2,Phase 3,Phase 1 123596
31 Immunosuppressive Agents Phase 4,Phase 2,Phase 1,Early Phase 1
32 Poly(ADP-ribose) Polymerase Inhibitors Phase 4
33
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
34
Ifosfamide Approved Phase 3,Phase 2 3778-73-2 3690
35
Mechlorethamine Approved Phase 3,Phase 2 51-75-2 4033
36
Tamsulosin Approved, Investigational Phase 3,Phase 1 106133-20-4 129211
37
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
38
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 9552079 2713
39
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
40
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
41
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
42 Alkylating Agents Phase 3,Phase 2
43 Antineoplastic Agents, Alkylating Phase 3,Phase 2
44 Isophosphamide mustard Phase 3,Phase 2
45 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
46 Adrenergic Agents Phase 3,Phase 1
47 Adrenergic alpha-1 Receptor Antagonists Phase 3,Phase 1
48 Adrenergic alpha-Antagonists Phase 3,Phase 1
49 Adrenergic Antagonists Phase 3,Phase 1
50 Carboxymethylcellulose Sodium Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 167)
id Name Status NCT ID Phase
1 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4
2 Molecular Profiling and Matched Targeted Therapy for Patients With Metastatic Melanoma Not yet recruiting NCT02645149 Phase 4
3 First Clinical Study of Erbium - Yttrium Aluminium Garnet (YAG) Laser Vaporization of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
4 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Unknown status NCT00346164 Phase 3
5 Study to Investigate the Efficacy and Safety of GL2702 GLARS-NF1tablet and Harnal-D - Tablet in BPH Patients With LUTS Completed NCT02303769 Phase 3
6 Minocycline in Clinically Isolated Syndromes (CIS) Completed NCT00666887 Phase 3
7 Effect of Lamotrigine on Cognition in NF1 Recruiting NCT02256124 Phase 2, Phase 3
8 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain Recruiting NCT02471339 Phase 3
9 Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-Rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery Recruiting NCT02180867 Phase 2, Phase 3
10 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3
11 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2
12 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2
13 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2
14 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2
15 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2
16 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2
17 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2
18 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2
19 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2
20 MEK162 for Patients With RAS/RAF/MEK Activated Tumors Completed NCT01885195 Phase 2
21 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2
22 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2
23 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2
24 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2
25 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2
26 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2
27 Sorafenib and Dacarbazine in Soft Tissue Sarcoma Completed NCT00837148 Phase 2
28 Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma Completed NCT00245102 Phase 2
29 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2
30 Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST) Recruiting NCT03109301 Phase 2
31 A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1) Recruiting NCT02718131 Phase 2
32 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery Recruiting NCT02407405 Phase 2
33 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2
34 Photodynamic Therapy for Benign Dermal Neurofibromas Recruiting NCT02728388 Phase 2
35 PLX3397 in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) Recruiting NCT02390752 Phase 1, Phase 2
36 AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors Recruiting NCT01362803 Phase 1, Phase 2
37 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Recruiting NCT02352844 Phase 2
38 Phase I/II Study of MEK162 for Children With Ras/Raf Pathway Activated Tumors Recruiting NCT02285439 Phase 1, Phase 2
39 Vinblastine +/- Bevacizumab in Children With Unresectable or Progressive Low Grade Glioma (LGG) Recruiting NCT02840409 Phase 2
40 Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma Recruiting NCT01089101 Phase 1, Phase 2
41 Study of Mutation-Targeted Therapy With Sunitinib or Everolimus in People With Advanced Low- or Intermediate-Grade Neuroendocrine Tumors of the Gastrointestinal Tract and Pancreas With or Without Cytoreductive Surgery Recruiting NCT02315625 Phase 2
42 NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma Recruiting NCT02465060 Phase 2
43 AZD2014 In NF2 Patients With Progressive or Symptomatic Meningiomas Recruiting NCT02831257 Phase 2
44 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2
45 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Recruiting NCT02934256 Phase 2
46 Study of RAD001 for Treatment of NF2-related Vestibular Schwannoma Recruiting NCT01345136 Phase 2
47 PLX3397 Plus Sirolimus in Unresectable Sarcoma and Malignant Peripheral Nerve Sheath Tumors Recruiting NCT02584647 Phase 1, Phase 2
48 Doxorubicin With Upfront Dexrazoxane Plus Olaratumab for the Treatment of Advanced or Metastatic Soft Tissue Sarcoma Recruiting NCT02584309 Phase 2
49 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
50 Sapanisertib or Pazopanib Hydrochloride in Treating Patients With Locally Advanced or Metastatic Sarcoma Recruiting NCT02601209 Phase 1, Phase 2

Search NIH Clinical Center for Neurofibromatosis, Type 1

Genetic Tests for Neurofibromatosis, Type 1

Genetic tests related to Neurofibromatosis, Type 1:

id Genetic test Affiliating Genes
1 Neurofibromatosis, Type 1 29
2 Neurofibromatosis 1 24 NF1

Anatomical Context for Neurofibromatosis, Type 1

MalaCards organs/tissues related to Neurofibromatosis, Type 1:

39
Skin, Brain, Eye, Breast, Spinal Cord, Thyroid, Bone

Publications for Neurofibromatosis, Type 1

Articles related to Neurofibromatosis, Type 1:

(show top 50) (show all 742)
id Title Authors Year
1
Neurofibromatosis type 1 and lichen sclerosus: an uncommon association. ( 27978612 )
2017
2
Development of the pediatric quality of life inventory neurofibromatosis type 1 module items for children, adolescents and young adults: qualitative methods. ( 28078640 )
2017
3
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis. ( 28436162 )
2017
4
Ruptured extradural vertebral artery aneurysm in a patient with neurofibromatosis type 1. ( 28057401 )
2017
5
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGMa8c platform. ( 27838393 )
2017
6
An autopsy case of superficial siderosis of the central nervous system accompanied by anterior sacral polycystic meningocele in neurofibromatosis type 1. ( 27356733 )
2016
7
Optic Pathway Glioma and Cerebral Focal Abnormal Signal Intensity in Patients with Neurofibromatosis Type 1: Characteristics, Treatment Choices and Follow-up in 134 Affected Individuals and a Brief Review of the Literature. ( 27466519 )
2016
8
Peripheral Primitive Neuroectodermal Tumor and Neurofibromatosis Type 1 in an Adolescent Male. ( 26828586 )
2016
9
Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report. ( 27284375 )
2016
10
Central precocious puberty due to hypothalamic hamartoma in neurofibromatosis type 1. ( 26732170 )
2016
11
Management of Giant Facial Neurofibroma With Intratumoral Hematoma in Neurofibromatosis Type 1 Patient. ( 27603687 )
2016
12
A case of spontaneous haematoma from vertebral artery arterio-venous fistula in a patient with neurofibromatosis type 1. ( 27596615 )
2016
13
Exploring the genetic basis for clinical variation in neurofibromatosis type 1. ( 27171602 )
2016
14
Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1. ( 26849809 )
2016
15
Coexistence of Ankylosing Spondylitis and Neurofibromatosis Type 1. ( 27597922 )
2016
16
Optic pathway glioma volume predicts retinal axon degeneration in neurofibromatosis type 1. ( 27815398 )
2016
17
A pale macule and a waxy pink lesion in a child with neurofibromatosis type 1. ( 27606368 )
2016
18
Unusual choroidal vessels in neurofibromatosis type 1 observed with near-infrared reflectance and spectral domain optical coherence tomography. ( 27543268 )
2016
19
Neurofibromatosis type 1: focal dystonia associated with a malignant peripheral nerve sheath tumour-a video-illustrated case. ( 27797864 )
2016
20
Optic Gliomas in Neurofibromatosis Type 1. ( 27537249 )
2016
21
Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series. ( 28050470 )
2016
22
Neurofibromatosis Type 1 and Vitiligo, a Rare Association. ( 28031143 )
2016
23
Painting neurofibromatosis type 1 in the 15th century. ( 27647642 )
2016
24
Neurofibromatosis type 1 (NF1) gene: Beyond cafAc au lait spots and dermal neurofibromas. ( 27622733 )
2016
25
CafAc-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature. ( 27212418 )
2016
26
NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1. ( 27173220 )
2016
27
A Case of Occipital Malignant Peripheral Nerve Sheath Tumor with Neurofibromatosis Type 1. ( 27628604 )
2016
28
Ganglioglioma of conus medullaris in a patient of neurofibromatosis type 1: A novel association? ( 27695570 )
2016
29
Large Cervical Vagus Nerve Tumor in a Patient with Neurofibromatosis Type 1 Treated with Gross Total Resection: Case Report and Review of the Literature. ( 28077961 )
2016
30
Body composition in adults with neurofibromatosis type 1. ( 28001256 )
2016
31
Ophthalmologic Screening for Optic Pathway Glioma in Neurofibromatosis Type 1. ( 27858947 )
2016
32
Goblet Cell Carcinoid of the Rectum in a Patient with Neurofibromatosis Type 1. ( 27237132 )
2016
33
Combined presence of multiple gastrointestinal stromal tumors along with duodenal submucosal somatostatinoma in a patient with neurofibromatosis type 1. ( 27510677 )
2016
34
Pheochromocytoma in neurofibromatosis type 1 during pregnancy. ( 27908211 )
2016
35
Sensitization of Ion Channels Contributes to Central and Peripheral Dysfunction in Neurofibromatosis Type 1. ( 27167129 )
2016
36
Hemidystonia in a Child With Neurofibromatosis Type 1. ( 27898639 )
2016
37
Quantitative MRI criteria for optic pathway enlargement in neurofibromatosis type 1. ( 27170570 )
2016
38
Ciliochoroidal ganglioneuroma in neurofibromatosis type 1: Report of a case and review of the literature. ( 26970398 )
2016
39
Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1. ( 27164720 )
2016
40
Sphenoid Wing Dysplasia with Pulsatile Exophthalmos in Neurofibromatosis Type 1. ( 27280756 )
2016
41
Capturing the wide variety of impaired fracture healing phenotypes in Neurofibromatosis Type 1 with eight key factors: a computational study. ( 26822862 )
2016
42
Macrocephaly Is Not a Predictor of Optic Pathway Glioma Development or Treatment in Neurofibromatosis Type 1. ( 27581847 )
2016
43
Clinical Images: Imaging Manifestations of Orbital Neurofibromatosis Type 1. ( 27999497 )
2016
44
Parent and Teacher Perspectives on Emerging Executive Functioning in Preschoolers With Neurofibromatosis Type 1: Comparison to Unaffected Children and Lab-Based Measures. ( 27189686 )
2016
45
Coexistence of breast carcinoma, pseudoangiomatous stromal hyperplasia, and neurofibromatosis type 1 in a male patient. ( 27721303 )
2016
46
Peripheral retinal ischemia in a young Indian woman with neurofibromatosis type 1. ( 26949362 )
2016
47
Aberrant demethylation and expression of MAGEB2 in a subset of malignant peripheral nerve sheath tumors from neurofibromatosis type 1. ( 26642794 )
2016
48
Neurofibromatosis type 1, presenting as a rare widespread neurofibromas with cord compression. ( 27141278 )
2016
49
Equatorial Staphyloma Associated with Neurofibromatosis Type 1. ( 27721788 )
2016
50
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. ( 27074763 )
2016

Variations for Neurofibromatosis, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Neurofibromatosis, Type 1:

66 (show top 50) (show all 79)
id 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
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

ClinVar genetic disease variations for Neurofibromatosis, Type 1:

6 (show top 50) (show all 283)
id Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NF1, ALU INS insertion Pathogenic
2 NF1 NF1, 5-BP DEL deletion Pathogenic
3 NF1 NM_001042492.2(NF1): c.5858T> C (p.Leu1953Pro) single nucleotide variant Pathogenic rs199474792 GRCh37 Chromosome 17, 29661901: 29661901
4 NF1 NM_000267.3(NF1): c.5845A> T (p.Arg1949Ter) single nucleotide variant Pathogenic rs267606595 GRCh37 Chromosome 17, 29661951: 29661951
5 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh37 Chromosome 17, 29585518: 29585518
6 NF1 NM_000267.3(NF1): c.5448dupC (p.Ser1817Leufs) duplication Pathogenic rs267606596 GRCh37 Chromosome 17, 29654759: 29654759
7 NF1 NM_000267.3(NF1): c.5465_5466insT (p.Lys1823Glnfs) insertion Pathogenic rs267606597 GRCh37 Chromosome 17, 29654776: 29654777
8 NF1 NM_000267.3(NF1): c.6427C> A (p.Leu2143Met) single nucleotide variant Pathogenic rs137854551 GRCh37 Chromosome 17, 29664448: 29664448
9 NF1 NM_000267.3(NF1): c.6511T> A (p.Tyr2171Asn) single nucleotide variant Pathogenic rs267606598 GRCh37 Chromosome 17, 29664532: 29664532
10 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh37 Chromosome 17, 29661945: 29661945
11 NF1 NM_000267.3(NF1): c.4084C> T (p.Arg1362Ter) single nucleotide variant Pathogenic rs137854560 GRCh37 Chromosome 17, 29576111: 29576111
12 NF1 NM_000267.3(NF1): c.3113+1G> A single nucleotide variant Pathogenic rs267606599 GRCh37 Chromosome 17, 29557401: 29557401
13 NF1 NM_001042492.2(NF1): c.1541_1542delAG (p.Gln514Argfs) deletion Pathogenic rs267606600 GRCh37 Chromosome 17, 29546036: 29546037
14 NF1 NM_000267.3(NF1): c.3104T> G (p.Met1035Arg) single nucleotide variant Pathogenic rs137854553 GRCh37 Chromosome 17, 29557391: 29557391
15 NF1 NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser) single nucleotide variant Pathogenic rs137854554 GRCh37 Chromosome 17, 29585424: 29585424
16 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh37 Chromosome 17, 29548860: 29548860
17 NF1 NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro) single nucleotide variant Pathogenic rs137854556 GRCh37 Chromosome 17, 29562747: 29562747
18 NF1 NM_000267.3(NF1): c.1466A> G (p.Tyr489Cys) single nucleotide variant Pathogenic rs137854557 GRCh37 Chromosome 17, 29541542: 29541542
19 NF1 NM_000267.3(NF1): c.1523T> C (p.Leu508Pro) single nucleotide variant Pathogenic rs137854558 GRCh37 Chromosome 17, 29541599: 29541599
20 NF1 NM_000267.3(NF1): c.1260+1G> A single nucleotide variant Pathogenic rs267606603 GRCh37 Chromosome 17, 29528504: 29528504
21 NF1 NM_000267.3(NF1): c.4021C> T (p.Gln1341Ter) single nucleotide variant Pathogenic rs137854559 GRCh37 Chromosome 17, 29576048: 29576048
22 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh37 Chromosome 17, 29663346: 29663346
23 NF1 NF1, DEL deletion Pathogenic
24 NF1 NM_001042492.2(NF1): c.3721C> T (p.Arg1241Ter) single nucleotide variant Pathogenic rs137854562 GRCh37 Chromosome 17, 29562641: 29562641
25 NF1 NM_000267.3(NF1): c.5406dupT (p.Ile1803Tyrfs) duplication Pathogenic rs267606605 GRCh37 Chromosome 17, 29654717: 29654717
26 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
27 NF1 NF1, 1-BP DEL, 3775T deletion Pathogenic
28 NF1 NM_000267.3(NF1): c.1070T> C (p.Leu357Pro) single nucleotide variant Pathogenic rs137854563 GRCh37 Chromosome 17, 29528062: 29528062
29 NF1 NF1, 1-BP DEL, 4071C deletion Pathogenic
30 NF1 NM_000267.3(NF1): c.3728T> C (p.Leu1243Pro) single nucleotide variant Pathogenic rs137854564 GRCh37 Chromosome 17, 29562648: 29562648
31 NF1 NM_000267.3(NF1): c.5710G> T (p.Glu1904Ter) single nucleotide variant Pathogenic rs137854565 GRCh37 Chromosome 17, 29657477: 29657477
32 NF1 NM_000267.3(NF1): c.2531T> G (p.Leu844Arg) single nucleotide variant Pathogenic rs137854566 GRCh37 Chromosome 17, 29556164: 29556164
33 NF1 NF1, IVS27DS, G-C, +1 single nucleotide variant Pathogenic
34 NF1 NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe) single nucleotide variant Pathogenic/Likely pathogenic rs199474789 GRCh37 Chromosome 17, 29585419: 29585419
35 NF1 NM_000267.3(NF1): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic rs397514641 GRCh37 Chromosome 17, 29497003: 29497003
36 NF1 NM_000267.3(NF1): c.1595T> C (p.Leu532Pro) single nucleotide variant Pathogenic rs199474737 GRCh37 Chromosome 17, 29546090: 29546090
37 NF1 NM_001042492.2(NF1): c.1748A> G (p.Lys583Arg) single nucleotide variant Pathogenic rs199474760 GRCh37 Chromosome 17, 29550488: 29550488
38 NF1 NM_001042492.2(NF1): c.1885G> A (p.Gly629Arg) single nucleotide variant Pathogenic rs199474738 GRCh37 Chromosome 17, 29552152: 29552152
39 NF1 NM_001042492.2(NF1): c.2288T> C (p.Leu763Pro) single nucleotide variant Pathogenic/Likely pathogenic rs199474762 GRCh37 Chromosome 17, 29554272: 29554272
40 NF1 NM_001042492.2(NF1): c.2339C> A (p.Thr780Lys) single nucleotide variant Pathogenic rs199474746 GRCh37 Chromosome 17, 29554554: 29554554
41 NF1 NM_001042492.2(NF1): c.2540T> C (p.Leu847Pro) single nucleotide variant Pathogenic rs199474747 GRCh37 Chromosome 17, 29556173: 29556173
42 NF1 NM_001042492.2(NF1): c.3827G> A (p.Arg1276Gln) single nucleotide variant Pathogenic rs137854556 GRCh37 Chromosome 17, 29562747: 29562747
43 NF1 NM_001042492.2(NF1): c.2033dupC (p.Ile679Aspfs) duplication Pathogenic rs587781807 GRCh37 Chromosome 17, 29553484: 29553484
44 NF1 NM_001042492.2(NF1): c.499_502delTGTT (p.Cys167Glnfs) deletion Pathogenic rs786201874 GRCh37 Chromosome 17, 29496928: 29496931
45 NF1 NM_001042492.2(NF1): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic rs786203448 GRCh37 Chromosome 17, 29508478: 29508478
46 NF1 NM_001042492.2(NF1): c.910C> T (p.Arg304Ter) single nucleotide variant Pathogenic rs786203950 GRCh37 Chromosome 17, 29527461: 29527461
47 NF1 NM_001042492.2(NF1): c.1756_1759delACTA (p.Thr586Valfs) deletion Pathogenic rs786202782 GRCh37 Chromosome 17, 29550496: 29550499
48 NF1 NM_001042492.2(NF1): c.3457_3460delCTCA (p.Leu1153Metfs) deletion Pathogenic rs786202594 GRCh37 Chromosome 17, 29559860: 29559863
49 NF1 NM_001042492.2(NF1): c.5609G> A (p.Arg1870Gln) single nucleotide variant Pathogenic rs786202112 GRCh37 Chromosome 17, 29654857: 29654857
50 NF1 NM_001042492.2(NF1): c.6855C> A (p.Tyr2285Ter) single nucleotide variant Pathogenic rs772295894 GRCh37 Chromosome 17, 29665757: 29665757

Expression for Neurofibromatosis, Type 1

Search GEO for disease gene expression data for Neurofibromatosis, Type 1.

Pathways for Neurofibromatosis, Type 1

Pathways related to Neurofibromatosis, Type 1 according to GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1 12.27 KIT MLH1 MSH2 MSH6
2
Show member pathways
12.01 SDHB SDHC SDHD
3 11.89 MLH1 MSH2 MSH6
4 11.84 MSH2 MSH6 NF1
5
Show member pathways
11.81 KIT MLH1 MSH2 MSH6
6 11.75 MLH1 MSH2 PMS2
7
Show member pathways
11.73 NF1 RASA2 SPRED1
8
Show member pathways
11.7 SDHB SDHC SDHD
9
Show member pathways
11.51 SDHB SDHC SDHD
10 11.3 MLH1 MSH2 MSH6
11
Show member pathways
11.25 MLH1 MSH2 MSH6 PMS2
12 10.39 MLH1 MSH2 MSH6 PMS2

GO Terms for Neurofibromatosis, Type 1

Cellular components related to Neurofibromatosis, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.37 NF1 RASA2
2 MutLalpha complex GO:0032389 9.32 MLH1 PMS2
3 mismatch repair complex GO:0032300 9.26 MSH2 PMS2
4 MutSalpha complex GO:0032301 9.16 MSH2 MSH6
5 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
6 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD

Biological processes related to Neurofibromatosis, Type 1 according to GeneCards Suite gene sharing:

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.86 MLH1 MSH2 MSH6 PMS2
2 DNA repair GO:0006281 9.85 MLH1 MSH2 MSH6 PMS2
3 MAPK cascade GO:0000165 9.81 KIT NF1 RASA2 SPRED1
4 pigmentation GO:0043473 9.58 KIT NF1
5 aerobic respiration GO:0009060 9.58 SDHB SDHC
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.58 MLH1 MSH2 MSH6
7 negative regulation of Ras protein signal transduction GO:0046580 9.57 NF1 RASA2
8 determination of adult lifespan GO:0008340 9.54 MSH2 MSH6
9 tricarboxylic acid cycle GO:0006099 9.54 SDHB SDHC SDHD
10 positive regulation of isotype switching to IgG isotypes GO:0048304 9.52 MLH1 MSH2
11 negative regulation of DNA recombination GO:0045910 9.49 MSH2 MSH6
12 positive regulation of helicase activity GO:0051096 9.48 MSH2 MSH6
13 maintenance of DNA repeat elements GO:0043570 9.46 MSH2 MSH6
14 mismatch repair GO:0006298 9.46 MLH1 MSH2 MSH6 PMS2
15 positive regulation of isotype switching to IgA isotypes GO:0048298 9.43 MLH1 MSH2
16 isotype switching GO:0045190 9.43 MLH1 MSH2 MSH6
17 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.32 MLH1 MSH2
18 somatic recombination of immunoglobulin gene segments GO:0016447 9.13 MLH1 MSH2 MSH6
19 somatic hypermutation of immunoglobulin genes GO:0016446 8.92 MLH1 MSH2 MSH6 PMS2

Molecular functions related to Neurofibromatosis, Type 1 according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.71 MLH1 MSH2 MSH6 PMS2
2 single-stranded DNA binding GO:0003697 9.7 MLH1 MSH2 PMS2
3 electron carrier activity GO:0009055 9.67 SDHB SDHC SDHD
4 ADP binding GO:0043531 9.55 MSH2 MSH6
5 four-way junction DNA binding GO:0000400 9.54 MSH2 MSH6
6 oxidized purine DNA binding GO:0032357 9.51 MSH2 MSH6
7 MutLalpha complex binding GO:0032405 9.48 MSH2 MSH6
8 ubiquinone binding GO:0048039 9.46 SDHB SDHD
9 MutSalpha complex binding GO:0032407 9.43 MLH1 PMS2
10 single guanine insertion binding GO:0032142 9.37 MSH2 MSH6
11 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.32 SDHB SDHD
12 succinate dehydrogenase activity GO:0000104 9.26 SDHC SDHD
13 single thymine insertion binding GO:0032143 9.16 MSH2 MSH6
14 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
15 mismatched DNA binding GO:0030983 8.92 MLH1 MSH2 MSH6 PMS2

Sources for Neurofibromatosis, Type 1

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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