NF4
MCID: NRF026
MIFTS: 26

Neurofibromatosis, Type Iv, of Riccardi (NF4)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurofibromatosis, Type Iv, of Riccardi

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

Name: Neurofibromatosis, Type Iv, of Riccardi 56 74 29
Neurofibromatosis, Type 4, of Riccardi 71
Neurofibromatosis, Variant Form of 56
Neurofibromatosis, Atypical 56
Familial Acoustic Neuroma 71
Neurofibromatosis 2 71
Neurofibromatosis 1 71
Neurofibromatoses 71
Nf Iv 56
Nf4 56

Characteristics:

OMIM:

56
Inheritance:
heterogeneous
autosomal dominant


HPO:

31
neurofibromatosis, type iv, of riccardi:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 56 162270
MedGen 41 C0220695
SNOMED-CT via HPO 68 263681008
UMLS 71 C0027831 C0027832 C0162678 more

Summaries for Neurofibromatosis, Type Iv, of Riccardi

MalaCards based summary : Neurofibromatosis, Type Iv, of Riccardi, also known as neurofibromatosis, type 4, of riccardi, is related to neurofibromatosis, 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). The drugs Methylphenidate and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and endothelial, and related phenotypes are lisch nodules and atypical neurofibromatosis

Wikipedia : 74 Neurofibromatosis type 4 (also known as "Neurofibromatosis variant type") resembles von Recklinghausen's... more...

More information from OMIM: 162270

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:

# Related Disease Score Top Affiliating Genes
1 neurofibromatosis 9.8

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


Acute Cystitis

Symptoms & Phenotypes for Neurofibromatosis, Type Iv, of Riccardi

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

31
# Description HPO Frequency HPO Source Accession
1 lisch nodules 31 HP:0009737
2 atypical neurofibromatosis 31 HP:0007524

Symptoms via clinical synopsis from OMIM:

56
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, headache, syncope, tinnitus, pain, chronic pain, sciatica, vertigo/dizziness, sleeplessness, neuralgia

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 162)
# 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
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
8 Analgesics, Non-Narcotic Phase 4
9 Analgesics Phase 4
10 Platelet Aggregation Inhibitors Phase 4
11 Sodium Channel Blockers Phase 4
12 Diuretics, Potassium Sparing Phase 4
13 Dopamine Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 Pharmaceutical Solutions Phase 4
16 Adrenergic alpha-Agonists Phase 4
17 Anesthetics Phase 4
18 Hypnotics and Sedatives Phase 4
19 Adrenergic Agents Phase 4
20 Cholinergic Agents Phase 4
21 Anesthetics, General Phase 4
22 Anti-Arrhythmia Agents Phase 4
23 Adrenergic Agonists Phase 4
24 Muscarinic Antagonists Phase 4
25 Cholinergic Antagonists Phase 4
26 Anesthetics, Inhalation Phase 4
27 Anesthetics, Intravenous Phase 4
28
Glycopyrrolate Phase 4 596-51-0 3494
29 Anesthetics, Local Phase 4
30
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
31
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
32
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
33
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 9552079 2713
34 Tubulin Modulators Phase 3
35 Antimitotic Agents Phase 3
36 Chlorhexidine gluconate Phase 2, Phase 3
37 Hormones Phase 2, Phase 3
38 Psychotropic Drugs Phase 2, Phase 3
39 Anticonvulsants Phase 2, Phase 3
40 Antipsychotic Agents Phase 2, Phase 3
41 Calcium, Dietary Phase 2, Phase 3
42 calcium channel blockers Phase 2, Phase 3
43
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
44
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
45
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
46
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908 9941095
47
Lactitol Approved, Investigational Phase 2 585-88-6, 585-86-4 493591
48
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
49
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
50
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941

Interventional clinical trials:

(show top 50) (show all 169)
# 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 Observer-blinded Randomized Study of Propofol Infusion vs Bolus Dexmedetomidine and Propofol Sedation for Pediatric Magnetic Resonance Imaging Completed NCT03513757 Phase 4 propofol;Dexmedetomidine;Glycopyrrolate;Lidocaine 1% Injectable Solution;Nitrous Oxide;Sevoflurane
3 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
4 First Clinical Study of Erbium-YAG Laser Vaporisation of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
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;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
6 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain: A Phase III Clinical Trial Active, not recruiting NCT02471339 Phase 3
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 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
9 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)
10 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
11 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
12 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
13 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
14 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
15 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
16 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
17 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
18 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
19 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
20 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
21 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
22 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
23 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
24 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
25 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
26 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
27 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
28 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
29 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
30 A Phase II Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
31 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
32 Phase 2 Study of Imatinib in Children With Neurofibromatosis and Airway Tumors Recruiting NCT03688568 Phase 2 Imatinib Mesylate
33 Prospective, Randomized, Placebo-Controlled Phase II Trial of Aspirin for Vestibular Schwannomas Recruiting NCT03079999 Phase 2 Aspirin;Placebo
34 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 PD-0325901 oral capsule
35 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
36 A Phase 2 Study of the MEK Inhibitor Trametinib (NSC# 763093) in Children With Relapsed or Refractory Juvenile Myelomonocytic Leukemia Recruiting NCT03190915 Phase 2 Trametinib
37 Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II Recruiting NCT02728388 Phase 2 aminolevulinic acid
38 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
39 Immunotherapy Targeting Neurofibromatosis or Schwannomatosis Recruiting NCT04085159 Phase 1, Phase 2
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 Neurobiology and Treatment of Reading Disability in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
42 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
43 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
44 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
45 Phase I/II Trial of Dabrafenib, Trametinib, and Hydroxychloroquine (HCQ) for BRAF V600E-mutant or Trametinib and HCQ for BRAF Fusion/Duplication Positive or NF1-associated Recurrent or Progressive Gliomas in Children and Young Adults Recruiting NCT04201457 Phase 1, Phase 2 Dabrafenib;Trametinib;Hydroxychloroquine
46 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
47 A Phase 1 and Phase II and Re-Treatment Study of AZD6244 for Recurrent or Refractory Pediatric Low Grade Glioma Recruiting NCT01089101 Phase 1, Phase 2 Selumetinib
48 A Phase II Study of Binimetinib in Children and Adults With NF1 Associated Plexiform Neurofibromas (PNOC010) Recruiting NCT03231306 Phase 2 Binimetinib
49 A Phase II Study of Cabozantinib (XL184) for Plexiform Neurofibromas in Subjects With Neurofibromatosis Type 1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
50 A Phase 2 Study of Trametinib for Patients With Pediatric Glioma or Plexiform Neurofibroma With Refractory Tumor and Activation of the MAPK/ERK Pathway. Recruiting NCT03363217 Phase 1, Phase 2 Trametinib

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

Genetic Tests for Neurofibromatosis, Type Iv, of Riccardi

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

# Genetic test Affiliating Genes
1 Neurofibromatosis, Type Iv, of Riccardi 29

Anatomical Context for Neurofibromatosis, Type Iv, of Riccardi

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

40
Bone, Brain, Endothelial

Publications for Neurofibromatosis, Type Iv, of Riccardi

Articles related to Neurofibromatosis, Type Iv, of Riccardi:

# Title Authors PMID Year
1
Neurofibromatosis: clinical heterogeneity. 56
6816509 1982
2
[The classification of atypical forms of neurofibromatosis]. 61
1903213 1991
3
The autoantigen Ku is indistinguishable from NF IV, a protein forming multimeric protein-DNA complexes. 61
2212941 1990
4
[Copper free gold alloy--Stabilor NF IV]. 61
110533 1979

Variations for Neurofibromatosis, Type Iv, of Riccardi

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

GO Terms for Neurofibromatosis, Type Iv, of Riccardi

Sources for Neurofibromatosis, Type Iv, of Riccardi

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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