NF4
MCID: NRF026
MIFTS: 74

Neurofibromatosis, Type Iv, of Riccardi (NF4)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Neurofibromatosis, Type Iv, of Riccardi

MalaCards integrated aliases for Neurofibromatosis, Type Iv, of Riccardi:

Name: Neurofibromatosis, Type Iv, of Riccardi 58 77
Neurofibromatosis 12 77 54 55 30 56 44 15 41 17
Neurofibromatosis Type 1 12 54 26 38 56 15
Neurofibromatosis 1 12 25 26 45 74
Neurofibromatosis Type Ii 77 25 54 26
Neurofibromatosis Type 2 12 77 54 26
Neurofibromatosis 2 25 26 45 74
Von Recklinghausen Disease 25 54 26
Nf2 25 54 26
Nf1 25 54 26
Neurofibromatosis, Type 4, of Riccardi 45 74
Bilateral Acoustic Neurofibromatosis 54 26
Peripheral Neurofibromatosis 12 26
Central Neurofibromatosis 12 26
Neurofibromatoses 45 74
Von Recklinghausen's Neurofibromatosis 25
Type Iv Neurofibromatosis of Riccardi 12
Neurofibromatosis, Variant Form of 58
Recklinghausen's Neurofibromatosis 12
Schwannoma, Acoustic, Bilateral 26
Acoustic Schwannomas Bilateral 54
Neurofibromatosis Central Type 54
Recklinghausen Disease, Nerve 26
Acoustic Neurinoma Bilateral 54
Neurofibromatosis, Atypical 58
Acoustic Neurofibromatosis 12
Familial Acoustic Neuromas 26
Atypical Neurofibromatosis 30
Neurofibromatosis Type Iv 12
Von Reklinghausen Disease 12
Familial Acoustic Neuroma 74
Neurofibromatosis Type 4 12
Neurofibromatosis Type I 77
Recklinghausen's Disease 54
Type 1 Neurofibromatosis 54
Nf Iv 58
Banf 26
Nf4 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
heterogeneous


HPO:

33
neurofibromatosis, type iv, of riccardi:
Inheritance heterogeneous autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is virtually complete after childhood...
Penetrance Penetrance is close to 100%. virtually all individuals who have a germline pathogenic variant develop the disease in an average lifetime...

Classifications:



Summaries for Neurofibromatosis, Type Iv, of Riccardi

NINDS : 55 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.

MalaCards based summary : Neurofibromatosis, Type Iv, of Riccardi, also known as neurofibromatosis, is related to neurofibromatosis-noonan syndrome and neurilemmoma, and has symptoms including seizures, ataxia and tremor. An important gene associated with Neurofibromatosis, Type Iv, of Riccardi is CDKN2B-AS1 (CDKN2B Antisense RNA 1), and among its related pathways/superpathways are MAPK signaling pathway and Ras signaling pathway. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin, and related phenotypes are delayed puberty and intellectual disability, mild

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms:Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years. Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner. There is no cure for NF. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy, and/or medicines.

MedlinePlus : 44 Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous. There are three types of neurofibromatosis: Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth. Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years. Schwannomatosis causes intense pain. It is the rarest type. Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines. NIH: National Institute of Neurological Disorders and Stroke

Wikipedia : 77 Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a... more...

Description from OMIM: 162270
GeneReviews: NBK1109 NBK1201

Related Diseases for Neurofibromatosis, Type Iv, of Riccardi

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

(show top 50) (show all 958)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 33.5 PTPN11 NF1
2 neurilemmoma 33.0 KIT NF1 NF2 PDGFRA
3 legius syndrome 32.5 MSH2 MSH6 NF1 PTPN11
4 neurofibroma 32.3 KIT NF1 NF2 PDGFRA
5 neurofibromatosis, type i 32.3 CDKN2B-AS1 KIT NF1 PDGFRA RASA1 RASA2
6 chronic myelomonocytic leukemia 32.2 KIT NF1 PTPN11
7 pulmonic stenosis 32.1 HRAS NF1 PTPN11
8 plexiform neurofibroma 32.1 CDKN2B-AS1 NF1 NF2
9 neurofibromatosis, familial spinal 32.1 NF1 NF2
10 noonan syndrome 1 32.0 HRAS NF1 PTPN11 RASA2
11 nervous system cancer 32.0 CDKN2B-AS1 NF1 NF2
12 pheochromocytoma 32.0 NF1 RET SDHB SDHC SDHD VHL
13 malignant peripheral nerve sheath tumor 31.9 KIT NF1 NF2 PDGFRA
14 plexiform schwannoma 31.8 KIT NF1 NF2
15 paraganglioma and gastric stromal sarcoma 31.8 SDHB SDHC SDHD
16 leopard syndrome 31.8 HRAS NF1 PTPN11
17 multiple endocrine neoplasia, type iia 31.8 NF1 RET SDHB SDHD
18 myelodysplastic myeloproliferative cancer 31.7 HRAS NF1 PTPN11
19 bone marrow cancer 31.6 HRAS KIT NF1 PDGFRA PTPN11
20 malignant spindle cell melanoma 31.6 KIT NF1
21 cardiofaciocutaneous syndrome 1 31.6 HRAS PTPN11 RASA1
22 vulvar melanoma 31.6 HRAS KIT NF1
23 paraganglioma 31.3 NF1 RET SDHB SDHC SDHD VHL
24 von hippel-lindau syndrome 31.2 NF1 RET SDHB SDHC SDHD VHL
25 mismatch repair cancer syndrome 31.1 MSH2 MSH6 PMS2
26 multiple endocrine neoplasia 30.9 NF1 RET SDHB SDHC VHL
27 sporadic pheochromocytoma 30.8 HRAS NF1 RET SDHB SDHC SDHD
28 hereditary paraganglioma-pheochromocytoma syndromes 30.8 RET SDHB SDHC SDHD VHL
29 autosomal dominant disease 30.6 MSH2 MSH6 NF1 PMS2
30 autosomal genetic disease 30.1 MSH2 MSH6 NF1 NF2 PMS2 RET
31 brain cancer 29.9 HRAS MSH2 MSH6 NF1 NF2 PDGFRA
32 leukemia, acute myeloid 29.8 CDKN2B-AS1 HRAS KIT PTPN11
33 myeloproliferative neoplasm 29.8 KIT PDGFRA PTPN11
34 leukemia, chronic myeloid 29.8 HRAS KIT PDGFRA RASA1
35 desmoid tumor 29.5 KIT PDGFRA
36 gastrointestinal stromal tumor 29.4 KIT NF1 PDGFRA SDHB SDHC SDHD
37 lynch syndrome i 29.2 MSH2 MSH6 PMS2
38 carney triad 29.0 KIT PDGFRA SDHB SDHC SDHD
39 rhabdomyosarcoma 29.0 MSH2 MSH6 PDGFRA PMS2 PTPN11
40 neurofibromatosis, type ii 12.5
41 chromosome 17q11.2 deletion syndrome, 1.4-mb 12.4
42 neurofibromatosis, type iii, mixed central and peripheral 12.2
43 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 12.2
44 chromosome 17q11.2 deletion syndrome 12.1
45 schwannomatosis 1 12.0
46 watson syndrome 11.9
47 pilocytic astrocytoma 11.8
48 optic pathway glioma 11.8
49 juvenile myelomonocytic leukemia 11.6
50 autosomal dominant café au lait spots 11.6

Comorbidity relations with Neurofibromatosis, Type Iv, of Riccardi via Phenotypic Disease Network (PDN):


Acute Cystitis

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



Diseases related to Neurofibromatosis, Type Iv, of Riccardi

Symptoms & Phenotypes for Neurofibromatosis, Type Iv, of Riccardi

Human phenotypes related to Neurofibromatosis, Type Iv, of Riccardi:

33 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 delayed puberty 33 hallmark (90%) HP:0000823
2 intellectual disability, mild 33 hallmark (90%) HP:0001256
3 subcutaneous nodule 33 hallmark (90%) HP:0001482
4 specific learning disability 33 hallmark (90%) HP:0001328
5 melanocytic nevus 33 hallmark (90%) HP:0000995
6 multiple lipomas 33 hallmark (90%) HP:0001012
7 multiple cafe-au-lait spots 33 hallmark (90%) HP:0007565
8 macule 33 hallmark (90%) HP:0012733
9 astrocytoma 33 hallmark (90%) HP:0009592
10 meningioma 33 hallmark (90%) HP:0002858
11 generalized hyperpigmentation 33 hallmark (90%) HP:0007440
12 plexiform neurofibroma 33 hallmark (90%) HP:0009732
13 lisch nodules 33 hallmark (90%) HP:0009737
14 genu valgum 33 frequent (33%) HP:0002857
15 ataxia 33 frequent (33%) HP:0001251
16 neurological speech impairment 33 frequent (33%) HP:0002167
17 hearing impairment 33 frequent (33%) HP:0000365
18 skeletal dysplasia 33 frequent (33%) HP:0002652
19 cryptorchidism 33 frequent (33%) HP:0000028
20 attention deficit hyperactivity disorder 33 frequent (33%) HP:0007018
21 memory impairment 33 frequent (33%) HP:0002354
22 paresthesia 33 frequent (33%) HP:0003401
23 heterochromia iridis 33 frequent (33%) HP:0001100
24 headache 33 frequent (33%) HP:0002315
25 recurrent fractures 33 frequent (33%) HP:0002757
26 proptosis 33 frequent (33%) HP:0000520
27 tall stature 33 frequent (33%) HP:0000098
28 freckling 33 frequent (33%) HP:0001480
29 slender long bone 33 frequent (33%) HP:0003100
30 macrocephaly 33 occasional (7.5%) HP:0000256
31 hydrocephalus 33 occasional (7.5%) HP:0000238
32 hypertension 33 occasional (7.5%) HP:0000822
33 precocious puberty 33 occasional (7.5%) HP:0000826
34 seizures 33 occasional (7.5%) HP:0001250
35 scoliosis 33 occasional (7.5%) HP:0002650
36 kyphosis 33 occasional (7.5%) HP:0002808
37 cataract 33 occasional (7.5%) HP:0000518
38 corneal opacity 33 occasional (7.5%) HP:0007957
39 joint stiffness 33 occasional (7.5%) HP:0001387
40 visual impairment 33 occasional (7.5%) HP:0000505
41 short stature 33 occasional (7.5%) HP:0004322
42 abnormality of retinal pigmentation 33 occasional (7.5%) HP:0007703
43 abnormal electroretinogram 33 occasional (7.5%) HP:0000512
44 abnormality of the hip bone 33 occasional (7.5%) HP:0003272
45 myopia 33 occasional (7.5%) HP:0000545
46 hypopigmented skin patches 33 occasional (7.5%) HP:0001053
47 abnormality of the upper urinary tract 33 occasional (7.5%) HP:0010935
48 abnormal hair quantity 33 occasional (7.5%) HP:0011362
49 chorioretinal coloboma 33 occasional (7.5%) HP:0000567
50 glaucoma 33 occasional (7.5%) HP:0000501

Symptoms via clinical synopsis from OMIM:

58
Skin:
atypical neurofibromatosis

Eyes:
iris lisch nodules usually absent

Clinical features from OMIM:

162270

UMLS symptoms related to Neurofibromatosis, Type Iv, of Riccardi:


seizures, ataxia, tremor, back pain, pain, headache, tinnitus, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness, neuralgia

GenomeRNAi Phenotypes related to Neurofibromatosis, Type Iv, of Riccardi according to GeneCards Suite gene sharing:

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.71 HRAS
2 Decreased viability GR00173-A 10.71 PDGFRA
3 Decreased viability GR00221-A-1 10.71 HRAS PDGFRA NF1 RET SDHD VHL
4 Decreased viability GR00221-A-2 10.71 HRAS NF1 RET SDHD VHL
5 Decreased viability GR00221-A-3 10.71 HRAS NF2 PDGFRA RASA1
6 Decreased viability GR00221-A-4 10.71 PDGFRA RASA1 NF1 RET SDHD RASA2
7 Decreased viability GR00231-A 10.71 RET
8 Decreased viability GR00301-A 10.71 RET VHL KIT MSH2
9 Decreased viability GR00381-A-1 10.71 RASA1 SDHD
10 Decreased viability GR00402-S-2 10.71 HRAS NF2 PDGFRA RASA1 NF1 RET
11 Decreased sensitivity to paclitaxel GR00112-A-0 9.16 NF1 VHL
12 Increased mitotic index GR00110-A-0 8.8 RASA2 RET SDHD

MGI Mouse Phenotypes related to Neurofibromatosis, Type Iv, of Riccardi:

47 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.4 HRAS KIT MSH2 MSH6 NF1 NF2
2 mortality/aging MP:0010768 10.33 HRAS KIT MSH2 MSH6 NF1 NF2
3 cellular MP:0005384 10.32 KIT MSH2 MSH6 NF1 PDGFRA PMS2
4 hematopoietic system MP:0005397 10.31 KIT MSH2 MSH6 NF1 PDGFRA PMS2
5 endocrine/exocrine gland MP:0005379 10.29 HRAS KIT NF1 NF2 PDGFRA PMS2
6 digestive/alimentary MP:0005381 10.27 HRAS KIT MSH2 NF1 PDGFRA PMS2
7 immune system MP:0005387 10.25 KIT MSH2 MSH6 NF1 NF2 PDGFRA
8 cardiovascular system MP:0005385 10.24 HRAS KIT NF1 PDGFRA PTPN11 RASA1
9 neoplasm MP:0002006 10.22 HRAS KIT MSH2 MSH6 NF1 NF2
10 embryo MP:0005380 10.21 KIT NF1 NF2 PDGFRA PTPN11 RASA1
11 craniofacial MP:0005382 10.18 HRAS KIT NF1 NF2 PDGFRA PTPN11
12 integument MP:0010771 10.15 HRAS KIT MSH2 MSH6 NF1 NF2
13 nervous system MP:0003631 10.07 HRAS KIT MSH2 NF1 NF2 PDGFRA
14 limbs/digits/tail MP:0005371 10.02 KIT NF1 PDGFRA PTPN11 RASA1 RET
15 muscle MP:0005369 9.98 KIT NF1 PDGFRA PTPN11 RASA1 RET
16 normal MP:0002873 9.96 HRAS KIT NF1 OMG PDGFRA PTPN11
17 no phenotypic analysis MP:0003012 9.92 HRAS KIT OMG PDGFRA PTPN11 RASA1
18 renal/urinary system MP:0005367 9.76 HRAS KIT NF1 NF2 PDGFRA RET
19 respiratory system MP:0005388 9.5 HRAS KIT NF1 NF2 PDGFRA PTPN11
20 skeleton MP:0005390 9.28 HRAS KIT NF1 NF2 PDGFRA PTPN11

Drugs & Therapeutics for Neurofibromatosis, Type Iv, of Riccardi

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

(show top 50) (show all 219)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Sunitinib Approved, Investigational Phase 4,Phase 2 557795-19-4, 341031-54-7 5329102
4
Everolimus Approved Phase 4,Phase 2,Phase 1,Early Phase 1 159351-69-6 70789204 6442177
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
6
Sorafenib Approved, Investigational Phase 4,Phase 2,Phase 1 284461-73-0 216239 406563
7
Palbociclib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 571190-30-2 5005498 11431660 5330286
8
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 53123-88-9 46835353 5284616 6436030
9
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
12
Crizotinib Approved Phase 4,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
13
Trametinib Approved Phase 4,Phase 3,Phase 2,Phase 1 871700-17-3 11707110
14
Dasatinib Approved, Investigational Phase 4,Phase 2 302962-49-8 3062316
15
Olaparib Approved Phase 4,Phase 3,Phase 2 763113-22-0 23725625
16
Ramucirumab Approved, Investigational Phase 4 947687-13-0
17
Gefitinib Approved, Investigational Phase 4 184475-35-2 123631
18
Ceritinib Approved Phase 4,Phase 3 1032900-25-6
19
Vorinostat Approved, Investigational Phase 4 149647-78-9 5311
20
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
21
Lapatinib Approved March 2007, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 231277-92-2, 388082-78-8 208908 9941095
22 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 1
23 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
24 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Immunologic Factors Phase 4,Phase 2,Phase 1,Early Phase 1
27 Dopamine Uptake Inhibitors Phase 4
28 Neurotransmitter Uptake Inhibitors Phase 4
29 Neurotransmitter Agents Phase 4,Phase 3,Phase 1
30 Central Nervous System Stimulants Phase 4,Not Applicable
31 Dopamine Agents Phase 4
32 Adrenergic Agents Phase 4,Phase 3,Phase 1
33 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
34 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
35
Erlotinib Hydrochloride Phase 4,Phase 2,Phase 1 183319-69-9 176871
36 Protein Kinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
37 Immunosuppressive Agents Phase 4,Phase 2,Phase 1,Early Phase 1
38 Antifungal Agents Phase 4,Phase 2,Phase 1,Early Phase 1
39 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1,Early Phase 1
40 Imatinib Mesylate Phase 4,Phase 2,Phase 3,Phase 1 220127-57-1 123596
41
Glycopyrrolate Phase 4 596-51-0 3494
42 Anesthetics, General Phase 4
43 Anesthetics Phase 4
44 Adrenergic alpha-Agonists Phase 4
45 Adrenergic alpha-2 Receptor Agonists Phase 4
46 Hypnotics and Sedatives Phase 4
47 Adrenergic Agonists Phase 4
48 Anesthetics, Intravenous Phase 4
49 Poly(ADP-ribose) Polymerase Inhibitors Phase 4,Phase 3,Phase 2
50
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978

Interventional clinical trials:

(show top 50) (show all 208)
# Name Status NCT ID Phase Drugs
1 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4 methylphenidate
2 Dexmedetomidine and Propofol for Pediatric MRI Sedation Recruiting NCT03513757 Phase 4 propofol;Dexmedetomidine
3 Molecular Profiling and Matched Targeted Therapy for Patients With Metastatic Melanoma Not yet recruiting NCT02645149 Phase 4 Standard therapy or clinical trial;Matched targeted therapy;Trametinib and / or supportive care
4 First Clinical Study of Erbium - Yttrium Aluminium Garnet (YAG) Laser Vaporization of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
5 Minocycline in Clinically Isolated Syndromes (CIS) Completed NCT00666887 Phase 3 Minocycline;Placebo
6 Clinical Trial to Evaluate the Efficacy and Safety of 'GLA5PR GLARS-NF1 Tab.' in Peripheral Neuropathic Pain Completed NCT03221907 Phase 3 GLA5PR GLARS-NF1;GLA5PR GLARS-NF1 placebo;Pregabalin;Pregabalin placebo
7 Study to Investigate the Efficacy and Safety of GL2702 GLARS-NF1tablet and Harnal-D - Tablet in BPH Patients With LUTS Completed NCT02303769 Phase 3 Tamsulosin HCL 0.4mg;Tamsulosin HCL 0.2mg
8 Effect of Lamotrigine on Cognition in NF1 Recruiting NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
9 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain Recruiting NCT02471339 Phase 3
10 Selumetinib Versus Carboplatin/Vincristine in Treating Patients With Newly Diagnosed or Previously Untreated NF1-Associated Low-Grade Glioma Not yet recruiting NCT03871257 Phase 3 Carboplatin;Selumetinib;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
11 MOLECULAR PROFILING OF ADVANCED SOFT-TISSUE SARCOMAS Not yet recruiting NCT03784014 Phase 3 Nilotinib;Ceritinib;Capmatinib;Lapatinib;Trametinib;Palbociclib;Glasdegib;TAS-120
12 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
13 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
14 Medical Treatment of "High-Risk" Neurofibromas Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
15 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
16 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
17 MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1 Completed NCT02096471 Phase 2 PD-0325901
18 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
19 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
20 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
21 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
22 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
23 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
24 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
25 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
26 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
27 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
28 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
29 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
30 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
31 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
32 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
33 SARC016: Study of Everolimus With Bevacizumab to Treat Refractory Malignant Peripheral Nerve Sheath Tumors Completed NCT01661283 Phase 2 everolimus;bevacizumab
34 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
35 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
36 SARC023: Ganetespib and Sirolimus in Patients With MPNST (Malignant Peripheral Nerve Sheath Tumors) Completed NCT02008877 Phase 1, Phase 2 ganetespib;Sirolimus
37 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
38 MEK162 for Patients With RAS/RAF/MEK Activated Tumors Completed NCT01885195 Phase 2 MEK162
39 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
40 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 Completed NCT02315625 Phase 2 Sunitinib;Everolimus
41 Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1) Recruiting NCT01968590 Phase 2 Cholecalciferol
42 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma Recruiting NCT02839720 Phase 2 Selumetinib
43 Interventions for Reading Disabilities in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
44 Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
45 A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1) Recruiting NCT02718131 Phase 2
46 Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Recruiting NCT03231306 Phase 2 Binimetinib
47 MEK 1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Recruiting NCT02407405 Phase 2 Selumetinib
48 Treatment of NF1-related Plexiform Neurofibroma With Trametinib Recruiting NCT03741101 Phase 2 Trametinib
49 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
50 Trametinib in Patients With Advanced Neurofibromatosis Type 1 (NF1)-Mutant Non-small Cell Lung Cancer Recruiting NCT03232892 Phase 2 Trametinib

Search NIH Clinical Center for Neurofibromatosis, Type Iv, of Riccardi

Cochrane evidence based reviews: neurofibromatosis 1

Genetic Tests for Neurofibromatosis, Type Iv, of Riccardi

Genetic tests related to Neurofibromatosis, Type Iv, of Riccardi:

# Genetic test Affiliating Genes
1 Atypical Neurofibromatosis 30
2 Neurofibromatosis 30

Anatomical Context for Neurofibromatosis, Type Iv, of Riccardi

MalaCards organs/tissues related to Neurofibromatosis, Type Iv, of Riccardi:

42
Bone, Brain, Skin, Spinal Cord, Eye, Testes, Thyroid

Publications for Neurofibromatosis, Type Iv, of Riccardi

Articles related to Neurofibromatosis, Type Iv, of Riccardi:

(show top 50) (show all 3377)
# Title Authors Year
1
Antiphospholipid syndrome and neurofibromatosis type I: a coincidence or new association? ( 30726411 )
2019
2
Left colic artery aneurysm rupture after stent placement for abdominal aortic aneurysm associated with neurofibromatosis type 1. ( 30673931 )
2019
3
Reversible eruption of neurofibromatosis associated with tofacitinib therapy for rheumatoid arthritis. ( 30753711 )
2019
4
Dramatic response to trametinib in a male child with neurofibromatosis type 1 and refractory astrocytoma. ( 30251337 )
2019
5
Neurofibromatosis Type 1 - Association with Breast Cancer, Basal Cell Carcinoma of the Skin, and Low-Grade Peripheral Nerve Sheath Sarcoma: Case Report and Literature Review. ( 31011321 )
2019
6
Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature. ( 30962859 )
2019
7
Metachronous bilateral triple-negative breast cancer associated with neurofibromatosis type 1: A case report. ( 30854057 )
2019
8
SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis. ( 30828344 )
2019
9
C1q Nephropathy in a Patient of Neurofibromatosis Type 1: A Rare Case Report. ( 30983754 )
2019
10
Multiple Cerebral Aneurysms Associated With Neurofibromatosis Type 1. ( 31080139 )
2019
11
Atypical teratoid rhabdoid tumor mimicking type II neurofibromatosis: A case report. ( 30702605 )
2019
12
Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature. ( 30635305 )
2019
13
Epilepsy surgery for a patient with neurofibromatosis type 1 concomitant with moyamoya syndrome. ( 30381160 )
2019
14
Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis Type 1 that Was Successfully Treated with Regorafenib. ( 30918185 )
2019
15
Simultaneous diagnosis of unilateral retinoblastoma and contralateral optic pathway glioma in a child with neurofibromatosis type 1. ( 30963792 )
2019
16
Commentary: Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I. ( 30881378 )
2019
17
Neurofibromatosis Type 1: Description of a Novel Diagnostic Scoring System in Pediatric Optic Nerve Glioma. ( 30741560 )
2019
18
Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1. ( 30711963 )
2019
19
Prevalence of Strabismus Among Children With Neurofibromatosis Type 1 Disease With and Without Optic Pathway Glioma. ( 30371910 )
2019
20
Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1. ( 29704429 )
2019
21
Brain gliomas, hydrocephalus and idiopathic aqueduct stenosis in children with neurofibromatosis type 1. ( 31000370 )
2019
22
Neurofibromatosis type 1 related hydrocephalus: treatment options and considerations. ( 31059857 )
2019
23
Parathyroid Carcinoma Causing Mild Hyperparathyroidism in Neurofibromatosis Type 1: A Case Report and Systematic Review. ( 30198445 )
2019
24
Left ventricular noncompaction and orthodromic atrioventricular tachycardia observed in a patient with neurofibromatosis type 1. ( 30949358 )
2019
25
Systemic Lupus Erythematosus, Evans Syndrome, and Neurofibromatosis: An Unusual Combination in Pediatric Patient. ( 31033790 )
2019
26
Malignant peripheral nerve sheath tumor: Transformation in a patient with neurofibromatosis type 2. ( 30408304 )
2019
27
Prognostic significance of mast cell and microvascular densities in malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1. ( 30735009 )
2019
28
Recurrent vulvar melanoma in a patient with neurofibromatosis and gastrointestinal stromal tumour. ( 30665926 )
2019
29
Melanoma in neurofibromatosis type 1: an Italian single center experience. ( 30616334 )
2019
30
Primary progressive multiple sclerosis and neurofibromatosis type 1. ( 31048186 )
2019
31
Rare manifestation of Neurofibromatosis type 1: A plexiform neurofibroma involving the mediastinum and lungs with endobronchial neurofibromata. ( 30238622 )
2019
32
Patient Reported Outcomes Measurement Information System and Quality of Life in Neurological Disorders Measurement System to Evaluate Quality of Life for Children and Adolescents with Neurofibromatosis Type 1 Associated Plexiform Neurofibroma. ( 30413310 )
2019
33
Gingival Neurofibroma With Teardrop-Shaped Defects of the Interdental Alveolar Bone: An Unusual Oral Manifestation of Neurofibromatosis Type 1. ( 30444769 )
2019
34
Topical sirolimus as an effective treatment for a deep neurofibroma in a patient with neurofibromatosis type I. ( 30828862 )
2019
35
Robust surgical approach for cutaneous neurofibroma in neurofibromatosis type 1. ( 31038470 )
2019
36
Giant Pelvic Neurofibroma in Patient with Plexiform Sciatic Neurofibroma and Neurofibromatosis Type 1. ( 31110582 )
2019
37
Sporadic Neurofibroma of the Tongue Unassociated with Neurofibromatosis Type I: A Clinicopathologic Study of Ten Cases. ( 31111316 )
2019
38
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia ( 31088041 )
2019
39
Painful Vater-Pacini neuroma of the digit in neurofibromatosis type 1. ( 30984511 )
2019
40
Biliary Rhabdomyosarcoma in an Infant Male With Neurofibromatosis Type 1. ( 29683957 )
2019
41
Combined Halo Gravity Traction and Dual Growing Rod Technique for the Treatment of Early-Onset Dystrophic Scoliosis in Neurofibromatosis Type 1. ( 30797914 )
2019
42
Treatment of early-onset scoliosis with growing rods in patients with neurofibromatosis-1. ( 30855545 )
2019
43
Surgical Treatment of Dystrophic Scoliosis in Neurofibromatosis Type 1: Outcomes and Complications. ( 30273186 )
2019
44
Dynamic thiol/disulphide homeostasis in children with neurofibromatosis type 1 and tuberous sclerosis. ( 30820867 )
2019
45
Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement. ( 30885426 )
2019
46
Hearing Response Following Internal Auditory Canal Decompression in Neurofibromatosis Type 2. ( 30888036 )
2019
47
Cinematic Rendering of Neurofibromatosis Type I Gastrointestinal Stromal Tumors. ( 30888936 )
2019
48
Caring for children with neurofibromatosis type 1. ( 30893202 )
2019
49
From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis. ( 30908866 )
2019
50
Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature. ( 30919579 )
2019

Variations for Neurofibromatosis, Type Iv, of Riccardi

Copy number variations for Neurofibromatosis, Type Iv, of Riccardi from CNVD:

7 (show top 50) (show all 68)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 107543 17 15900000 22100000 Microdeletion Neurofibromatosis
2 108747 17 22200000 78774742 Deletion Neurofibromatosis
3 108749 17 22200000 78774742 Deletion duplicatio n Neurofibromatosis
4 108858 17 23200000 28800000 Deletion or duplicat ion NF1 Neurofibromatosis
5 108865 17 23200000 28800000 Microdeletion AK3P1b Neurofibromatosis type 1
6 108866 17 23200000 28800000 Microdeletion ATAD5 Neurofibromatosis type 1
7 108868 17 23200000 28800000 Microdeletion C17orf42 Neurofibromatosis type 1
8 108869 17 23200000 28800000 Microdeletion C17orf79 Neurofibromatosis type 1
9 108870 17 23200000 28800000 Microdeletion CENTA2 Neurofibromatosis type 1
10 108871 17 23200000 28800000 Microdeletion CRLF3 Neurofibromatosis type 1
11 108872 17 23200000 28800000 Microdeletion DPRXP4 Neurofibromatosis type 1
12 108873 17 23200000 28800000 Microdeletion EVI2A Neurofibromatosis type 1
13 108874 17 23200000 28800000 Microdeletion EVI2B Neurofibromatosis type 1
14 108875 17 23200000 28800000 Microdeletion LOC646013 Neurofibromatosis type 1
15 108876 17 23200000 28800000 Microdeletion LOC646021 Neurofibromatosis type 1
16 108877 17 23200000 28800000 Microdeletion LOC646037 Neurofibromatosis type 1
17 108878 17 23200000 28800000 Microdeletion LRRC37B Neurofibromatosis type 1
18 108879 17 23200000 28800000 Microdeletion LRRC37B2 Neurofibromatosis type 1
19 108880 17 23200000 28800000 Microdeletion MIRN193A Neurofibromatosis type 1
20 108881 17 23200000 28800000 Microdeletion MIRN365-2 Neurofibromatosis type 1
21 108882 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
22 108883 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
23 108884 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
24 108885 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
25 108886 17 23200000 28800000 Microdeletion OMG Neurofibromatosis type 1
26 108887 17 23200000 28800000 Microdeletion RAB11FIP4 Neurofibromatosis type 1
27 108888 17 23200000 28800000 Microdeletion RNF135 Neurofibromatosis type 1
28 108889 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
29 108890 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
30 108891 17 23200000 28800000 Microdeletion SUZ12P Neurofibromatosis type 1
31 108892 17 23200000 28800000 Microdeletion SUZ12P Neurofibromatosis type 1
32 108893 17 23200000 28800000 Microdeletion UTP6 Neurofibromatosis type 1
33 108894 17 23200000 28800000 Microdeletion or mic roduplication NF1 Neurofibromatosis type 1
34 109393 17 25800000 31800000 Deletion Neurofibromatosis
35 109395 17 25800000 31800000 Deletion NF1 Neurofibromatosis type 1
36 109408 17 25800000 31800000 Copy number NF1 Neurofibromatosis type 1
37 109504 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
38 109505 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
39 109506 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
40 109522 17 26576214 26734130 Deletion EVI2A Neurofibromatosis type 1
41 109523 17 26576214 26734130 Deletion EVI2B Neurofibromatosis type 1
42 109524 17 26576214 26734130 Deletion NF1 Neurofibromatosis type 1
43 109525 17 26576214 26734130 Deletion OMG Neurofibromatosis type 1
44 109526 17 26576214 26734130 Deletion RAB11FIP4 Neurofibromatosis type 1
45 109530 17 26611486 26611711 Deletion Neurofibromatosis
46 109531 17 26612781 26613078 Deletion Neurofibromatosis
47 109532 17 26614112 26614421 Deletion Neurofibromatosis
48 109533 17 26616287 26616583 Deletion Neurofibromatosis
49 109534 17 26642254 28641850 Deletion Neurofibromatosis
50 109539 17 26646606 26646625 Deletion Neurofibromatosis

Expression for Neurofibromatosis, Type Iv, of Riccardi

Search GEO for disease gene expression data for Neurofibromatosis, Type Iv, of Riccardi.

Pathways for Neurofibromatosis, Type Iv, of Riccardi

Pathways related to Neurofibromatosis, Type Iv, of Riccardi according to KEGG:

38
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Ras signaling pathway hsa04014

Pathways related to Neurofibromatosis, Type Iv, of Riccardi according to GeneCards Suite gene sharing:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.41 HRAS KIT NF1 PDGFRA PTPN11 RASA1
2
Show member pathways
13.17 HRAS KIT NF1 PDGFRA PTPN11 RASA1
3
Show member pathways
12.83 HRAS MSH2 MSH6 PDGFRA RASA1
4 12.55 HRAS KIT NF1 PDGFRA RASA1 RASA2
5
Show member pathways
12.55 HRAS KIT MSH2 MSH6 PDGFRA PTPN11
6
Show member pathways
12.47 HRAS MSH2 PDGFRA PTPN11 RASA1
7 12.42 HRAS KIT MSH2 MSH6 PDGFRA RET
8
Show member pathways
12.32 HRAS KIT PDGFRA PTPN11
9
Show member pathways
12.31 HRAS NF1 PTPN11 RASA1
10
Show member pathways
12.21 HRAS NF1 RASA1 RASA2
11
Show member pathways
12.05 HRAS PDGFRA PTPN11 RASA1
12
Show member pathways
11.96 HRAS NF1 RASA1 RASA2
13
Show member pathways
11.93 HRAS NF1 RASA1 RASA2
14 11.88 HRAS NF1 PTPN11
15
Show member pathways
11.84 SDHB SDHC SDHD
16
Show member pathways
11.81 MSH2 MSH6 PMS2
17
Show member pathways
11.81 HRAS KIT NF1 PDGFRA PTPN11 RASA1
18
Show member pathways
11.8 HRAS PTPN11 RASA1
19 11.78 HRAS NF1 NF2 PDGFRA
20
Show member pathways
11.72 HRAS KIT RET
21
Show member pathways
11.63 HRAS PTPN11 RASA1 VHL
22
Show member pathways
11.54 NF1 RASA1 RASA2
23 11.51 HRAS PTPN11 RASA1
24 11.44 NF1 RASA1 RASA2
25 11.44 HRAS NF1 RET
26 11.44 HRAS KIT PDGFRA RET
27 11.39 HRAS PTPN11 RASA1
28 11.3 HRAS RASA1 RET
29 11.19 HRAS NF1 RASA1
30 11.12 MSH2 MSH6 PMS2
31 10.84 HRAS PTPN11 RASA1 RET
32 10.2 HRAS RASA1 RET

GO Terms for Neurofibromatosis, Type Iv, of Riccardi

Cellular components related to Neurofibromatosis, Type Iv, of Riccardi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MutSalpha complex GO:0032301 9.26 MSH2 MSH6
2 respiratory chain complex II GO:0045273 9.16 SDHB SDHC
3 mismatch repair complex GO:0032300 9.13 MSH2 MSH6 PMS2
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD

Biological processes related to Neurofibromatosis, Type Iv, of Riccardi according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.83 KIT PDGFRA PTPN11 RET
2 activation of MAPK activity GO:0000187 9.82 KIT PTPN11 RET
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.79 KIT PDGFRA RET
4 positive regulation of MAPK cascade GO:0043410 9.78 HRAS KIT PDGFRA RET
5 regulation of GTPase activity GO:0043087 9.77 NF1 RASA1 RASA2
6 ephrin receptor signaling pathway GO:0048013 9.76 HRAS PTPN11 RASA1
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.67 HRAS KIT PDGFRA PTPN11
8 positive regulation of cell migration GO:0030335 9.65 CDKN2B-AS1 HRAS KIT PDGFRA RET
9 negative regulation of DNA recombination GO:0045910 9.64 MSH2 MSH6
10 isotype switching GO:0045190 9.63 MSH2 MSH6
11 determination of adult lifespan GO:0008340 9.63 MSH2 MSH6
12 tricarboxylic acid cycle GO:0006099 9.63 SDHB SDHC SDHD
13 megakaryocyte development GO:0035855 9.62 KIT PTPN11
14 negative regulation of apoptotic process GO:0043066 9.61 RASA1 VHL
15 negative regulation of JAK-STAT cascade GO:0046426 9.61 NF2 VHL
16 mismatch repair GO:0006298 9.61 MSH2 MSH6 PMS2
17 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.59 NF1 RET
18 positive regulation of helicase activity GO:0051096 9.58 MSH2 MSH6
19 negative regulation of Ras protein signal transduction GO:0046580 9.58 NF1 RASA1 RASA2
20 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.56 SDHC SDHD
21 maintenance of DNA repeat elements GO:0043570 9.54 MSH2 MSH6
22 negative regulation of cell-matrix adhesion GO:0001953 9.5 NF1 NF2 RASA1
23 somatic recombination of immunoglobulin gene segments GO:0016447 9.49 MSH2 MSH6
24 somatic hypermutation of immunoglobulin genes GO:0016446 9.33 MSH2 MSH6 PMS2
25 pyrimidine dimer repair GO:0006290 9.27 MSH6
26 replication fork arrest GO:0043111 9.25 MSH6
27 meiotic mismatch repair GO:0000710 9.21 MSH6
28 MAPK cascade GO:0000165 9.17 HRAS KIT NF1 PDGFRA RASA1 RASA2
29 positive regulation of phospholipase C activity GO:0010863 9.13 HRAS KIT PDGFRA

Molecular functions related to Neurofibromatosis, Type Iv, of Riccardi according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.65 SDHB SDHC SDHD
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.54 KIT PDGFRA RET
3 four-way junction DNA binding GO:0000400 9.49 MSH2 MSH6
4 MutLalpha complex binding GO:0032405 9.46 MSH2 MSH6
5 oxidized purine DNA binding GO:0032357 9.43 MSH2 MSH6
6 guanine/thymine mispair binding GO:0032137 9.4 MSH2 MSH6
7 mismatched DNA binding GO:0030983 9.33 MSH2 MSH6 PMS2
8 single thymine insertion binding GO:0032143 9.32 MSH2 MSH6
9 single guanine insertion binding GO:0032142 9.26 MSH2 MSH6
10 ubiquinone binding GO:0048039 8.96 SDHB SDHD
11 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.8 SDHB SDHC SDHD

Sources for Neurofibromatosis, Type Iv, of Riccardi

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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