NF1
MCID: NRF024
MIFTS: 76

Neurofibromatosis, Type I (NF1)

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

Aliases & Classifications for Neurofibromatosis, Type I

MalaCards integrated aliases for Neurofibromatosis, Type I:

Name: Neurofibromatosis, Type I 57
Von Recklinghausen Disease 57 12 73 25 20 43 58 72
Neurofibromatosis 1 12 25 43 72 44 15 70
Nf1 57 12 25 20 43 58 72
Neurofibromatosis, Type 1 57 29 13 6 39
Neurofibromatosis Type 1 20 43 58 36 54
Peripheral Neurofibromatosis 12 43
Neurofibromatosis Type I 12 73
Von Recklinghausen Disease Due to Nf1 Mutation or Intragenic Deletion 58
Neurofibromatosis Type 1 Due to Nf1 Mutation or Intragenic Deletion 58
Von Recklinghausen's Neurofibromatosis 25
Neurofibromatosis, Peripheral Type 57
Familial Spinal Neurofibromatosis 12
Neurofibromatosis Peripheral Type 72
Recklinghausen Disease, Nerve 43
Von Recklinghausen's Disease 53
Von Recklinghausen Syndrome 72
Recklinghausen's Disease 20
Type 1 Neurofibromatosis 20
Fsnf 12

Characteristics:

Orphanet epidemiological data:

58
neurofibromatosis type 1
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (United Kingdom),1-5/10000 (Finland),1-5/10000 (New Zealand),1-5/10000 (Europe),1-5/10000 (United States),1-5/10000 (Worldwide),1-9/100000 (Canada),1-5/10000 (Sweden); Age of onset: Infancy,Neonatal; Age of death: adult,elderly,young Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
50% of cases are de novo
sporadic occurrence is associated with advanced paternal age
prevalence of 1 in 3,000


HPO:

31
neurofibromatosis, type i:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is virtually complete after childhood.

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 12 DOID:0111253
OMIM® 57 162200
KEGG 36 H01437
ICD9CM 34 237.71
MeSH 44 D009456
NCIt 50 C3273
SNOMED-CT 67 92824003
ICD10 32 Q85.01
MESH via Orphanet 45 C538607 D009456
ICD10 via Orphanet 33 Q85.0
UMLS via Orphanet 71 C0027831
MedGen 41 C0027831
UMLS 70 C0027831

Summaries for Neurofibromatosis, Type I

MedlinePlus Genetics : 43 Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.Beginning in early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older. Freckles in the underarms and groin typically develop later in childhood.Most adults with neurofibromatosis type 1 develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some people with neurofibromatosis type 1 develop cancerous tumors that grow along nerves. These tumors, which usually develop in adolescence or adulthood, are called malignant peripheral nerve sheath tumors. People with neurofibromatosis type 1 also have an increased risk of developing other cancers, including brain tumors and cancer of blood-forming tissue (leukemia).During childhood, benign growths called Lisch nodules often appear in the colored part of the eye (the iris). Lisch nodules do not interfere with vision. Some affected individuals also develop tumors that grow along the nerve leading from the eye to the brain (the optic nerve). These tumors, which are called optic gliomas, may lead to reduced vision or total vision loss. In some cases, optic gliomas have no effect on vision.Additional signs and symptoms of neurofibromatosis type 1 vary, but they can include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people with neurofibromatosis type 1 have normal intelligence, learning disabilities and attention-deficit/hyperactivity disorder (ADHD) occur frequently in affected individuals.

MalaCards based summary : Neurofibromatosis, Type I, also known as von recklinghausen disease, is related to chromosome 17q11.2 deletion syndrome and chromosome 17q11.2 duplication syndrome, 1.4-mb, and has symptoms including neuralgia An important gene associated with Neurofibromatosis, Type I is NF1 (Neurofibromin 1), and among its related pathways/superpathways are MAPK signaling pathway and Ras signaling pathway. The drugs Methylphenidate and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin, and related phenotypes are hypertelorism and delayed puberty

Disease Ontology : 12 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.

GARD : 20 Neurofibromatosis type 1 (NF1) is a genetic condition that affects the skin, the skeleton and the part of the nervous system outside the brain and spinal cord peripheral nervous system). The main signs and symptoms of NF1 include dark colored spots on the skin (cafe-au-lait spots), benign growths along the nerves (neurofibromas), and freckles in the underarm and groin. Other symptoms may include colored spots in the eye (Lisch nodules), curvature of the spine, learning disabilities, and an increased risk for cancer. The number of neurofibromas typically increases over time, and some can get large or turn cancerous and need to be removed. The severity and symptoms can vary greatly from person to person. This condition is caused by genetic changes ( DNA variants ) in the NF1 gene and is inherited in an autosomal dominant pattern. NF1 is diagnosed based on a clinical examination, the specific signs and symptoms, and genetic testing. Treatment is based on the signs and symptoms present in each person.

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 20-May-2021)

NINDS : 53 The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain and spinal cord, and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. There are three forms of neurofibromatosis (NF): NF1 is the more common type of the disorder. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old, may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia. NF2 is less common and is characterized by slow-growing tumors on the vestibular branch of the right and left eighth cranial nerves, which are called vestibular schwannomas or acoustic neuromas.. The tumors press on and damage neighboring nerves and reduce hearing. The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve. The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue. Some people may develop numbness, tingling, or weakness in the fingers and toes.

KEGG : 36 Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an autosomal dominant disease caused by mutations of NF1 gene on chromosome 17. The NF1 gene encodes a RAS GTPase-activating protein called neurofibromin. It is one of the most frequent human genetic diseases, with a prevalence of one case in 3000 births and there is no sex or racial predilection. NF1 is characterized by multiple cafe-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a... 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 1365)
# Related Disease Score Top Affiliating Genes
1 chromosome 17q11.2 deletion syndrome 33.2 RNF135 NF1 EVI2A
2 chromosome 17q11.2 duplication syndrome, 1.4-mb 32.8 RNF135 NF1
3 neurofibroma 32.7 RASA2 PDGFRA NF2 NF1 KIT
4 chromosome 17q11.2 deletion syndrome, 1.4-mb 32.5 RNF135 NF1
5 neurofibromatosis, familial spinal 32.5 NF1 LOC111811965
6 mismatch repair cancer syndrome 1 32.4 PMS2 MSH2 MLH1
7 rasopathy 32.3 RASA2 RASA1 NF2 NF1 KIT
8 hereditary paraganglioma-pheochromocytoma syndromes 32.2 SDHD SDHC SDHB RET NF1
9 neurofibromatosis 32.2 SDHD SDHB RNF135 RET RASA2 RASA1
10 paraganglioma and gastric stromal sarcoma 32.2 SDHD SDHC SDHB RET PDGFRA NF1
11 leiomyosarcoma 32.1 PDGFRA NF1 KIT
12 skin benign neoplasm 32.1 NF1 MSH2 MLH1 EWSR1
13 paraganglioma 32.1 SDHD SDHC SDHB RET NF1 KIT
14 acoustic neuroma 32.0 NF2 NF1 MSH2
15 oligodendroglioma 32.0 PMS2 PDGFRA NF1 MSH2 MLH1
16 skin carcinoma 32.0 PMS2 PDGFRA NF1 MSH2 MLH1 KIT
17 neurilemmomatosis 31.9 RASA1 NF2 NF1
18 multiple endocrine neoplasia, type iia 31.9 SDHD SDHC SDHB RET NF1
19 cellular schwannoma 31.9 NF2 NF1
20 lipomatosis, multiple 31.9 NF1 KIT EWSR1
21 hereditary breast ovarian cancer syndrome 31.9 PMS2 NF1 MSH2 MLH1
22 skin melanoma 31.9 PMS2 PDGFRA NF1 MLH1 KIT
23 ewing sarcoma 31.9 RET PDGFRA NF1 KIT EWSR1 ERG
24 gliofibroma 31.9 PDGFRA NF1 KIT
25 multiple endocrine neoplasia, type i 31.9 SDHD SDHC SDHB RET NF1
26 brain cancer 31.9 PMS2 PDGFRA NF2 NF1
27 malignant spindle cell melanoma 31.9 RASA2 NF1 KIT
28 myelodysplastic/myeloproliferative neoplasm 31.9 PDGFRA NF1 KIT
29 cowden syndrome 1 31.9 SDHD SDHB PMS2 NF1 MSH2 MLH1
30 plexiform schwannoma 31.9 NF2 NF1 KIT
31 optic nerve neoplasm 31.8 RASA2 NF2 NF1
32 epithelioid neurofibroma 31.8 NF2 NF1
33 small intestine leiomyoma 31.8 PDGFRA NF2 NF1 KIT
34 neurilemmoma of the fifth cranial nerve 31.8 NF2 NF1
35 trigeminal nerve neoplasm 31.8 NF2 NF1
36 sturge-weber syndrome 31.8 RASA1 NF2 NF1
37 peripheral nervous system neoplasm 31.8 NF2 NF1 KIT EWSR1
38 muscle cancer 31.8 PDGFRA NF1 KIT EWSR1
39 cerebral falx meningioma 31.8 NF2 NF1
40 cranial nerve neoplasm 31.8 NF2 NF1 EWSR1
41 vulvar melanoma 31.8 NF1 KIT
42 skeletal muscle cancer 31.8 NF1 KIT EWSR1
43 skin lipoma 31.8 RET NF1
44 peripheral nerve schwannoma 31.8 NF2 NF1
45 subglottis benign neoplasm 31.8 SDHC SDHB NF1
46 cardiofaciocutaneous syndrome 1 31.8 RASA2 RASA1 NF1
47 duodenum cancer 31.8 PMS2 NF1 MSH2 MLH1
48 multiple endocrine neoplasia, type iib 31.8 SDHD SDHB RET NF1
49 optic nerve sheath meningioma 31.8 NF2 NF1
50 carney complex variant 31.8 SDHD SDHB RET NF1

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 31 (show top 50) (show all 139)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
3 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
4 specific learning disability 58 31 very rare (1%) Very frequent (99-80%),Frequent (79-30%) HP:0001328
5 melanocytic nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000995
6 multiple lipomas 58 31 hallmark (90%) Very frequent (99-80%) HP:0001012
7 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
8 multiple cafe-au-lait spots 58 31 very rare (1%) Very frequent (99-80%) HP:0007565
9 macule 58 31 very rare (1%) Very frequent (99-80%),Very rare (<4-1%) HP:0012733
10 meningioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002858
11 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
12 astrocytoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0009592
13 plexiform neurofibroma 58 31 very rare (1%) Very frequent (99-80%) HP:0009732
14 lisch nodules 58 31 very rare (1%) Very frequent (99-80%),Frequent (79-30%) HP:0009737
15 cafe-au-lait spot 58 31 hallmark (90%) Very frequent (99-80%) HP:0000957
16 macrocephaly 58 31 very rare (1%) Occasional (29-5%),Frequent (79-30%) HP:0000256
17 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
18 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
19 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
20 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
21 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
22 genu valgum 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002857
23 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
24 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0007018
25 broad neck 58 31 frequent (33%) Frequent (79-30%) HP:0000475
26 slender long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003100
27 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
28 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
29 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
30 heterochromia iridis 58 31 frequent (33%) Frequent (79-30%) HP:0001100
31 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
32 tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0000098
33 freckling 58 31 frequent (33%) Frequent (79-30%) HP:0001480
34 headache 58 31 very rare (1%) Frequent (79-30%),Very rare (<4-1%) HP:0002315
35 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
36 bone cyst 58 31 frequent (33%) Frequent (79-30%) HP:0012062
37 large hands 58 31 frequent (33%) Frequent (79-30%) HP:0001176
38 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
39 long foot 58 31 frequent (33%) Frequent (79-30%) HP:0001833
40 proportionate tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0011407
41 speech articulation difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0009088
42 subcutaneous neurofibromas 58 31 frequent (33%) Frequent (79-30%) HP:0100698
43 axillary freckling 58 31 very rare (1%) Frequent (79-30%) HP:0000997
44 inguinal freckling 58 31 very rare (1%) Frequent (79-30%) HP:0030052
45 hypotonia 31 frequent (33%) HP:0001252
46 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
47 scoliosis 58 31 very rare (1%) Occasional (29-5%),Frequent (79-30%) HP:0002650
48 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
49 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
50 hydrocephalus 58 31 very rare (1%) Occasional (29-5%),Very rare (<4-1%) HP:0000238

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

UMLS symptoms related to Neurofibromatosis, Type I:


neuralgia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.01 PDGFRA
2 Decreased viability GR00221-A-1 10.01 KIT NF1 PDGFRA RET SDHD
3 Decreased viability GR00221-A-2 10.01 NF1 RET SDHD
4 Decreased viability GR00221-A-3 10.01 PDGFRA RASA1
5 Decreased viability GR00221-A-4 10.01 NF1 PDGFRA RET SDHD RASA1 RASA2
6 Decreased viability GR00249-S 10.01 NF1 PDGFRA SDHD
7 Decreased viability GR00301-A 10.01 KIT RET
8 Decreased viability GR00381-A-1 10.01 SDHD RASA1
9 Decreased viability GR00386-A-1 10.01 NF1 RASA1
10 Decreased viability GR00402-S-2 10.01 PDGFRA RET

MGI Mouse Phenotypes related to Neurofibromatosis, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 ERG KIT MLH1 MSH2 NF1 PDGFRA
2 homeostasis/metabolism MP:0005376 10.1 ERG KIT MLH1 MSH2 NF1 NF2
3 endocrine/exocrine gland MP:0005379 10.07 ERG KIT MLH1 NF1 NF2 PDGFRA
4 digestive/alimentary MP:0005381 10.06 KIT MLH1 MSH2 NF1 PDGFRA PMS2
5 hematopoietic system MP:0005397 10.06 ERG KIT MLH1 MSH2 NF1 PDGFRA
6 immune system MP:0005387 9.9 ERG KIT MLH1 MSH2 NF1 NF2
7 mortality/aging MP:0010768 9.77 ERG KIT MLH1 MSH2 NF1 NF2
8 neoplasm MP:0002006 9.4 ERG KIT MLH1 MSH2 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 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Trametinib Approved Phase 4 871700-17-3 11707110
4
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
5 Dopamine Uptake Inhibitors Phase 4
6 Neurotransmitter Agents Phase 4
7 Dopamine Agents Phase 4
8 Protein Kinase Inhibitors Phase 4
9
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
10
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
11
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
12
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 9552079 2713
13
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
14 Tubulin Modulators Phase 3
15 Antimitotic Agents Phase 3
16 Psychotropic Drugs Phase 2, Phase 3
17 Sodium Channel Blockers Phase 2, Phase 3
18 Hormones Phase 2, Phase 3
19 Chlorhexidine gluconate Phase 2, Phase 3
20 Anticonvulsants Phase 2, Phase 3
21 Diuretics, Potassium Sparing Phase 2, Phase 3
22 calcium channel blockers Phase 2, Phase 3
23 Antipsychotic Agents Phase 2, Phase 3
24 Calcium, Dietary 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
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
30
Etoposide Approved Phase 2 33419-42-0 36462
31
Lenograstim Approved, Investigational Phase 2 135968-09-1
32
Ifosfamide Approved Phase 2 3778-73-2 3690
33
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
34
Vinblastine Approved Phase 2 865-21-4 13342 241903
35
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
36
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
37
Diclofenac Approved, Vet_approved Phase 2 15307-86-5 3033
38
Bevacizumab Approved, Investigational Phase 2 216974-75-3
39
Lactitol Approved, Investigational Phase 2 585-86-4 157355
40
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908 9941095
41
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
42
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
43
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
44
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
45
Aminolevulinic acid Approved Phase 2 106-60-5 137
46
Caffeine Approved Phase 2 58-08-2 2519
47
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
48
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
49
Dimethyl sulfoxide Approved, Vet_approved Phase 1, Phase 2 67-68-5 679
50
Lenalidomide Approved Phase 2 191732-72-6 216326

Interventional clinical trials:

(show top 50) (show all 164)
# 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 Long-term Study of NPC-12G Gel in Neurofibromatosis Type I Recruiting NCT04461886 Phase 3 NPC-12G gel
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 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
7 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
8 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)
9 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
10 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
11 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
12 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
13 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
14 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
15 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
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 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
18 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
19 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
20 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
21 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
22 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
23 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
24 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
25 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
26 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
27 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
28 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Completed NCT01125046 Phase 2
29 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
30 Phase II Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Completed NCT02129647 Phase 2 Axitinib
31 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
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 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
34 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
35 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
36 Neurobiology and Treatment of Reading Disability in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
37 A Phase II Trial on the Effect of Low-Dose Versus High-Dose Vitamin D Supplementation on Bone Mass in Adults With Neurofibromatosis Type 1 (NF1) Recruiting NCT01968590 Phase 2 Cholecalciferol
38 Phase II Trial of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Recruiting NCT02407405 Phase 2 Selumetinib
39 Antioxidant Therapy With N-acetylcysteine for Motor Behavior and/or Learning in Children With Neurofibromatosis Type 1 Recruiting NCT04481048 Phase 2 N-Acetyl cysteine
40 Pilot Study of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) for Adults With Neurofibromatosis Type 1 (NF1) and Cutaneous Neurofibromas (CNF) Recruiting NCT02839720 Phase 2 Selumetinib;Selumetinib Sulfate
41 Phase I/II Trial of 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 PLX3397
42 A Phase 2b Trial of the MEK 1/2 Inhibitor (MEKi) PD-0325901 in Adult and Pediatric Patients With Neurofibromatosis Type 1 (NF1)-Associated Inoperable Plexiform Neurofibromas (PNs) That Are Causing Significant Morbidity Recruiting NCT03962543 Phase 2 Mirdametinib (PD-0325901) oral capsule or dispersible tablet
43 Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II Recruiting NCT02728388 Phase 2 aminolevulinic acid
44 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 Recruiting NCT04435665 Phase 2 NFX-179 Gel;Vehicle Gel
45 Treatment of NF1-related Plexiform Neurofibroma With Trametinib; a Single Arm, Open-label Trial With the Goals of Volumetric Partial Remission and Pain Relief Recruiting NCT03741101 Phase 2 Trametinib
46 Open-label, Phase 2 Clinical Trial of Crizotinib for Children and Adults With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Recruiting NCT04283669 Phase 2 Crizotinib
47 SARC031: A Phase 2 Trial of the MEK Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Combination With the mTOR Inhibitor Sirolimus for Patients With Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumors Recruiting NCT03433183 Phase 2 Selumetinib;Sirolimus
48 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
49 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) Recruiting NCT04374305 Phase 2 Brigatinib
50 Immunotherapy Targeting Neurofibromatosis or Schwannomatosis Recruiting NCT04085159 Phase 1, Phase 2

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 29 NF1

Anatomical Context for Neurofibromatosis, Type I

MalaCards organs/tissues related to Neurofibromatosis, Type I:

40
Eye, Brain, Skin, Bone, Spinal Cord, Breast, Lung

Publications for Neurofibromatosis, Type I

Articles related to Neurofibromatosis, Type I:

(show top 50) (show all 1984)
# Title Authors PMID Year
1
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 6 57 25
15520408 2004
2
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. 6 57 25
12483293 2003
3
A search for evidence of somatic mutations in the NF1 gene. 61 6 57
10633134 2000
4
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. 57 6
24232412 2014
5
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 6 25 61
23913538 2013
6
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 6 61 25
23812910 2013
7
Pulmonary hypertension in patients with neurofibromatosis type I. 61 6 25
21512413 2011
8
Neurofibromatosis type 1 revisited. 54 57 25
19117870 2009
9
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 57 6
17406642 2007
10
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. 6 57
17426081 2007
11
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. 61 25 6
17103458 2006
12
Double inactivation of NF1 in tibial pseudarthrosis. 6 57
16773574 2006
13
Heterozygous mutations of OTX2 cause severe ocular malformations. 6 57
15846561 2005
14
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1. 6 57
14605872 2004
15
Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers. 6 57
14635100 2003
16
NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 6 57
12746402 2003
17
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. 6 57
12522551 2003
18
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations. 6 57
11409870 2001
19
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. 57 6
11115850 2000
20
Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. 57 6
10677298 2000
21
Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. 6 57
9783703 1998
22
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 6 57
9668168 1998
23
Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. 6 57
9180088 1997
24
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 6 57
9003501 1997
25
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. 61 6 25
8807336 1996
26
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. 57 6
8544190 1995
27
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. 6 57
7655472 1995
28
Screening for truncated NF1 proteins. 6 57
7874161 1994
29
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. 57 6
8116612 1994
30
Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 57 6
1302608 1992
31
A de novo Alu insertion results in neurofibromatosis type 1. 57 6
1719426 1991
32
Neurofibromatosis associated with malignant neurofibromas. 57 6
4633999 1973
33
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 25 6
27838393 2017
34
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 25 6
27322474 2016
35
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1. 6 25
26478990 2015
36
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 6 25
26178382 2015
37
In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients. 57 25
26393470 2015
38
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. 6 25
25370043 2015
39
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. 6 25
25293717 2015
40
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. 6 25
26056819 2015
41
The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features. 6 25
25211147 2015
42
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? 6 25
25074460 2015
43
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. 25 6
25877329 2015
44
Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1. 25 6
24932921 2014
45
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25 6
25325900 2014
46
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 25 6
23656349 2014
47
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. 25 6
24357598 2014
48
Growth behavior of plexiform neurofibromas after surgery. 25 57
23598713 2013
49
Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer. 6 25
23624750 2013
50
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 25 6
23047742 2013

Variations for Neurofibromatosis, Type I

ClinVar genetic disease variations for Neurofibromatosis, Type I:

6 (show top 50) (show all 5615)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF1 NM_001042492.3(NF1):c.6425del (p.Ser2142fs) Deletion Pathogenic 952633 GRCh37: 17:29663930-29663930
GRCh38: 17:31336912-31336912
2 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) SNV Pathogenic 336 rs137854550 GRCh37: 17:29585518-29585518
GRCh38: 17:31258500-31258500
3 NF1 NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) SNV Pathogenic 343 rs137854552 GRCh37: 17:29661945-29661945
GRCh38: 17:31334927-31334927
4 NF1 NM_000267.3(NF1):c.8042dup (p.Tyr2681Ter) Duplication Pathogenic 349 rs267606601 GRCh37: 17:29685631-29685632
GRCh38: 17:31358613-31358614
5 NF1 NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) SNV Pathogenic 354 rs137854557 GRCh37: 17:29541542-29541542
GRCh38: 17:31214524-31214524
6 NF1 NM_000267.3(NF1):c.6200T>C (p.Leu2067Pro) SNV Pathogenic 358 rs137854561 GRCh37: 17:29663768-29663768
GRCh38: 17:31336750-31336750
7 NF1 NM_000267.3(NF1):c.5944-5A>G SNV Pathogenic 359 rs267606604 GRCh37: 17:29663346-29663346
GRCh38: 17:31336328-31336328
8 NF1 NM_000267.3(NF1):c.5944-5A>G SNV Pathogenic 359 rs267606604 GRCh37: 17:29663346-29663346
GRCh38: 17:31336328-31336328
9 NF1 NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) SNV Pathogenic 368 rs137854563 GRCh37: 17:29528062-29528062
GRCh38: 17:31201044-31201044
10 NF1 NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) SNV Pathogenic 368 rs137854563 GRCh37: 17:29528062-29528062
GRCh38: 17:31201044-31201044
11 NF1 NM_000267.3(NF1):c.7126+3A>C SNV Pathogenic 369 rs267606610 GRCh37: 17:29670156-29670156
GRCh38: 17:31343138-31343138
12 NF1 NM_000267.3(NF1):c.574C>T (p.Arg192Ter) SNV Pathogenic 40093 rs397514641 GRCh37: 17:29497003-29497003
GRCh38: 17:31169985-31169985
13 NF1 NM_000267.3(NF1):c.1642-8A>G SNV Pathogenic 352 rs267606602 GRCh37: 17:29548860-29548860
GRCh38: 17:31221842-31221842
14 NF1 NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) SNV Pathogenic 208853 rs797045139 GRCh37: 17:29654736-29654736
GRCh38: 17:31327718-31327718
15 NF1 NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) SNV Pathogenic 208854 rs771529172 GRCh37: 17:29654737-29654737
GRCh38: 17:31327719-31327719
16 NF1 NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) SNV Pathogenic 188280 rs768638173 GRCh37: 17:29553492-29553492
GRCh38: 17:31226474-31226474
17 NF1 NM_000267.3(NF1):c.2970_2972del (p.Met992del) Deletion Pathogenic 363 rs267606606 GRCh37: 17:29556972-29556974
GRCh38: 17:31229954-31229956
18 NF1 NM_001042492.2(NF1):c.6852_6855del (p.Tyr2285fs) Deletion Pathogenic 216866 rs1555535032 GRCh37: 17:29665752-29665755
GRCh38: 17:31338734-31338737
19 NF1 NM_000267.3(NF1):c.7419G>A (p.Trp2473Ter) SNV Pathogenic 216067 rs863224493 GRCh37: 17:29679299-29679299
GRCh38: 17:31352281-31352281
20 NF1 NM_000267.3(NF1):c.7096_7101del Microsatellite Pathogenic 220715 rs864622639 GRCh37: 17:29670116-29670121
GRCh38: 17:31343098-31343103
21 NF1 NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) SNV Pathogenic 68341 rs137854556 GRCh37: 17:29562747-29562747
GRCh38: 17:31235729-31235729
22 NF1 NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) SNV Pathogenic 228381 rs876657714 GRCh37: 17:29654553-29654553
GRCh38: 17:31327535-31327535
23 NF1 NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) SNV Pathogenic 230673 rs778405030 GRCh37: 17:29533315-29533315
GRCh38: 17:31206297-31206297
24 NF1 NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) SNV Pathogenic 237556 rs199474742 GRCh37: 17:29562746-29562746
GRCh38: 17:31235728-31235728
25 NF1 NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) SNV Pathogenic 230467 rs866445127 GRCh37: 17:29679366-29679366
GRCh38: 17:31352348-31352348
26 NF1 NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) SNV Pathogenic 185354 rs786202112 GRCh37: 17:29654857-29654857
GRCh38: 17:31327839-31327839
27 NF1 NM_000267.3(NF1):c.1721+3A>G SNV Pathogenic 374108 rs1057518904 GRCh37: 17:29548950-29548950
GRCh38: 17:31221932-31221932
28 NF1 NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) Deletion Pathogenic 186215 rs786202782 GRCh37: 17:29550494-29550497
GRCh38: 17:31223476-31223479
29 NF1 NM_000267.3(NF1):c.910C>T (p.Arg304Ter) SNV Pathogenic 187722 rs786203950 GRCh37: 17:29527461-29527461
GRCh38: 17:31200443-31200443
30 NF1 NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) SNV Pathogenic 280055 rs886041347 GRCh37: 17:29556079-29556079
GRCh38: 17:31229061-31229061
31 NF1 NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) SNV Pathogenic 184261 rs786201367 GRCh37: 17:29684326-29684326
GRCh38: 17:31357308-31357308
32 NF1 NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) SNV Pathogenic 457650 rs1064794277 GRCh37: 17:29559850-29559850
GRCh38: 17:31232832-31232832
33 NF1 NM_000267.3(NF1):c.4661+1G>A SNV Pathogenic 457713 rs1555619056 GRCh37: 17:29588876-29588876
GRCh38: 17:31261858-31261858
34 NF1 NM_000267.3(NF1):c.4514+1G>A SNV Pathogenic 439997 rs1279529138 GRCh37: 17:29587534-29587534
GRCh38: 17:31260516-31260516
35 NF1 NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) SNV Pathogenic 350 rs137854555 GRCh37: 17:29588828-29588828
GRCh38: 17:31261810-31261810
36 NF1 NM_000267.3(NF1):c.3870+1G>T SNV Pathogenic 565498 rs1131691075 GRCh37: 17:29562791-29562791
GRCh38: 17:31235773-31235773
37 NF1 NM_000267.3(NF1):c.2266C>T (p.Gln756Ter) SNV Pathogenic 576444 rs1567847905 GRCh37: 17:29554250-29554250
GRCh38: 17:31227232-31227232
38 NF1 NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) SNV Pathogenic 68341 rs137854556 GRCh37: 17:29562747-29562747
GRCh38: 17:31235729-31235729
39 NF1 NM_000267.3(NF1):c.3870+1G>T SNV Pathogenic 565498 rs1131691075 GRCh37: 17:29562791-29562791
GRCh38: 17:31235773-31235773
40 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) SNV Pathogenic 336 rs137854550 GRCh37: 17:29585518-29585518
GRCh38: 17:31258500-31258500
41 NF1 NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter) SNV Pathogenic 570950 rs1567862991 GRCh37: 17:29587499-29587499
GRCh38: 17:31260481-31260481
42 NF1 NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) SNV Pathogenic 208854 rs771529172 GRCh37: 17:29654737-29654737
GRCh38: 17:31327719-31327719
43 NF1 NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) SNV Pathogenic 185354 rs786202112 GRCh37: 17:29654857-29654857
GRCh38: 17:31327839-31327839
44 NF1 NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter) SNV Pathogenic 187652 rs786203896 GRCh37: 17:29657486-29657486
GRCh38: 17:31330468-31330468
45 NF1 NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) SNV Pathogenic 343 rs137854552 GRCh37: 17:29661945-29661945
GRCh38: 17:31334927-31334927
46 NF1 NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) SNV Pathogenic 233869 rs876660696 GRCh37: 17:29662034-29662034
GRCh38: 17:31335016-31335016
47 NF1 NM_000267.3(NF1):c.5943+1G>A SNV Pathogenic 488817 rs1555534433 GRCh37: 17:29662050-29662050
GRCh38: 17:31335032-31335032
48 NF1 NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) SNV Pathogenic 428948 rs1131691073 GRCh37: 17:29667571-29667571
GRCh38: 17:31340553-31340553
49 NF1 NM_001042492.3(NF1):c.6704+1G>T SNV Pathogenic 547680 rs1060500376 GRCh37: 17:29664899-29664899
GRCh38: 17:31337881-31337881
50 NF1 NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter) SNV Pathogenic 570950 rs1567862991 GRCh37: 17:29587499-29587499
GRCh38: 17:31260481-31260481

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

72 (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 rs106050031
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:

7 (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 KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Ras signaling pathway hsa04014

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

# Super pathways Score Top Affiliating Genes
1 12.56 RET PDGFRA MSH2 MLH1 KIT
2
Show member pathways
12.49 RET PDGFRA MSH2 MLH1 ERG
3 12.43 RASA2 RASA1 PDGFRA NF1 KIT
4
Show member pathways
12.2 RASA2 RASA1 PDGFRA NF1 KIT
5
Show member pathways
11.67 SDHD SDHC SDHB
6
Show member pathways
11.61 PMS2 MSH2 MLH1
7 11.34 RET PDGFRA KIT
8 11.09 RASA2 RASA1 NF1
9
Show member pathways
10.86 RASA2 RASA1 NF1
10 10.26 PMS2 MSH2 MLH1

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 MutLalpha complex GO:0032389 9.26 PMS2 MLH1
2 respiratory chain complex II GO:0045273 9.16 SDHC SDHB
3 mismatch repair complex GO:0032300 9.13 PMS2 MSH2 MLH1
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHD SDHC SDHB

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.8 RET PDGFRA KIT CDKN2B-AS1
2 regulation of GTPase activity GO:0043087 9.69 RASA2 RASA1 NF1
3 positive regulation of kinase activity GO:0033674 9.65 RET PDGFRA KIT
4 isotype switching GO:0045190 9.54 MSH2 MLH1
5 positive regulation of phospholipase C activity GO:0010863 9.52 PDGFRA KIT
6 tricarboxylic acid cycle GO:0006099 9.5 SDHD SDHC SDHB
7 positive regulation of isotype switching to IgG isotypes GO:0048304 9.46 MSH2 MLH1
8 positive regulation of isotype switching to IgA isotypes GO:0048298 9.43 MSH2 MLH1
9 mismatch repair GO:0006298 9.43 PMS2 MSH2 MLH1
10 somatic recombination of immunoglobulin gene segments GO:0016447 9.4 MSH2 MLH1
11 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.37 SDHD SDHC
12 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.16 MSH2 MLH1
13 somatic hypermutation of immunoglobulin genes GO:0016446 9.13 PMS2 MSH2 MLH1
14 MAPK cascade GO:0000165 9.1 RET RASA2 RASA1 PDGFRA NF1 KIT

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.58 SDHD SDHC SDHB
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 RET PDGFRA KIT
3 ubiquinone binding GO:0048039 9.37 SDHD SDHB
4 MutSalpha complex binding GO:0032407 9.32 PMS2 MLH1
5 guanine/thymine mispair binding GO:0032137 9.16 MSH2 MLH1
6 succinate dehydrogenase activity GO:0000104 8.96 SDHD SDHC
7 mismatched DNA binding GO:0030983 8.8 PMS2 MSH2 MLH1

Sources for Neurofibromatosis, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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