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NF2
MCID: NRF023
MIFTS: 76

Neurofibromatosis, Type Ii (NF2)

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Neurofibromatosis, Type Ii

About this section

MalaCards integrated aliases for Neurofibromatosis, Type Ii:

Name: Neurofibromatosis, Type Ii 58 39
Acne 39 12 77 30 44 15 17 74 64
Acne Vulgaris 12 77 56 45 15 74
Neurofibromatosis, Type 2 58 30 13 6 41
Neurofibromatosis Type 2 60 38 56
Nf2 58 60 76
Bilateral Acoustic Neurofibromatosis 58 60
Central Neurofibromatosis 60 76
Neurofibromatosis 2 76 74
Acne Varioliformis 12 74
Bilateral Acoustic Neurofibromatosis; Banf 58
Acoustic Neurinoma, Bilateral; Acn 58
Neurofibromatosis, Central Type 58
Acoustic Schwannomas, Bilateral 58
Acoustic Neurinoma, Bilateral 58
Frontalis Acne 12
Banf 58
Acn 58

Characteristics:

Orphanet epidemiological data:

60
neurofibromatosis type 2
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom),1-9/100000 (Finland); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incidence of 1 in 25,000 livebirths
nearly 100% penetrance by 60 years of age
approximately half of the mutations are de novo


HPO:

33
neurofibromatosis, type ii:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Cancer diseases
Anatomical: Skin diseases Neuronal diseases Eye diseases Ear diseases Bone diseases Nephrological diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Neurofibromatosis, Type Ii

About this section
MedlinePlus : 44 Acne is a common skin disease that causes pimples. Pimples form when hair follicles under your skin clog up. Most pimples form on the face, neck, back, chest, and shoulders. Anyone can get acne, but it is common in teenagers and young adults. It is not serious, but it can cause scars. No one knows exactly what causes acne. Hormone changes, such as those during the teenage years and pregnancy, probably play a role. There are many myths about what causes acne. Chocolate and greasy foods are often blamed, but there is little evidence that foods have much effect on acne in most people. Another common myth is that dirty skin causes acne; however, blackheads and pimples are not caused by dirt. Stress doesn't cause acne, but stress can make it worse. If you have acne Clean your skin gently Try not to touch your skin Avoid the sun Treatments for acne include medicines and creams. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Neurofibromatosis, Type Ii, also known as acne, is related to neurilemmoma and spinal cord ependymoma, and has symptoms including ataxia, pruritus and headache. An important gene associated with Neurofibromatosis, Type Ii is NF2 (Neurofibromin 2), and among its related pathways/superpathways are Hippo signaling pathway and Cytoskeletal Signaling. The drugs Clindamycin and Benzoyl peroxide have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and testes, and related phenotypes are ataxia and sensorineural hearing impairment

Disease Ontology : 12 A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.

Genetics Home Reference : 26 Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found with this condition.

OMIM : 58 The central or type II form of neurofibromatosis (NF2) is an autosomal dominant multiple neoplasia syndrome characterized by tumors of the eighth cranial nerve (usually bilateral), meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord. The incidence of neurofibromatosis type II is 1 in 25,000 live births (Asthagiri et al., 2009). NF2 has few of the hallmarks of the peripheral or type I form of neurofibromatosis (NF1; 162200), also known as von Recklinghausen disease. Asthagiri et al. (2009) provided a detailed review of neurofibromatosis type II. (101000)

UniProtKB/Swiss-Prot : 76 Neurofibromatosis 2: Genetic disorder characterized by bilateral vestibular schwannomas (formerly called acoustic neuromas), schwannomas of other cranial and peripheral nerves, meningiomas, and ependymomas. It is inherited in an autosomal dominant fashion with full penetrance. Affected individuals generally develop symptoms of eighth-nerve dysfunction in early adulthood, including deafness and balance disorder. Although the tumors of NF2 are histologically benign, their anatomic location makes management difficult, and patients suffer great morbidity and mortality.

PubMed Health : 64 About acne: Most teenagers will have pimples at some point. Some only have a few small pimples that soon go away again. Others develop more severe, persistent and clearly visible acne. This can be very distressing, particularly in puberty.But there are a number of things that can be done about acne, although patience is needed. This information is about acne in teenagers and young adults, known as “common acne or acne vulgaris.

Wikipedia : 77 Acne, also known as acne vulgaris, is a long-term skin disease that occurs when hair follicles are... more...

Sources

Related Diseases for Neurofibromatosis, Type Ii

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Diseases in the Neurofibromatosis, Type Ii family:

Neurofibromatosis, Type I

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

(show top 50) (show all 533)
# Related Disease Score Top Affiliating Genes
1 neurilemmoma 32.6 EZR MSN NF1 NF2
2 spinal cord ependymoma 32.5 EPB41L3 NF2
3 benign ependymoma 32.4 EPB41L3 NF2
4 neurilemmomatosis 32.2 NF1 NF2
5 meningioma, familial 32.1 EPB41L3 NF1 NF2
6 spinal meningioma 32.1 NF1 NF2
7 benign meningioma 32.0 EPB41L3 NF2
8 neurofibrosarcoma 31.9 NF1 NF2
9 plexiform neurofibroma 31.8 NF1 NF2
10 plexiform schwannoma 31.7 NF1 NF2
11 immature cataract 31.7 NF1 NF2
12 facial nerve disease 31.7 CADM1 NF2
13 atypical neurofibroma 31.6 NF1 NF2
14 trigeminal nerve neoplasm 31.6 NF1 NF2
15 neurilemmoma of the fifth cranial nerve 31.6 NF1 NF2
16 amyloid tumor 31.6 NF1 NF2
17 spinal canal and spinal cord meningioma 31.5 NF1 NF2
18 optic nerve neoplasm 31.4 NF1 NF2
19 meningioma, radiation-induced 30.9 CADM1 EPB41L3 EZR MSN NF2 RDX
20 sebaceous gland disease 30.2 DEFB4A IL1A SHBG TLR2
21 septic arthritis 30.1 DEFB4A TLR2
22 vaginitis 30.0 DEFB4A EZR
23 facial paralysis 29.9 CADM1 NF2
24 acoustic neuroma 29.5 NF1 NF2
25 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.6
26 pyogenic arthritis, pyoderma gangrenosum and acne 12.5
27 acne inversa, familial, 3 12.5
28 acne inversa, familial, 1 12.4
29 acne inversa, familial, 2, with or without dowling-degos disease 12.4
30 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 12.3
31 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome 12.2
32 hidradenitis suppurativa 12.1
33 sapho syndrome 12.0
34 acne, adult 12.0
35 anterior cutaneous nerve entrapment syndrome 12.0
36 rosacea 11.9
37 neurofibromatosis, type iv, of riccardi 11.8
38 schwannomatosis 1 11.8
39 neurofibromatosis, type i 11.7
40 polycystic ovary syndrome 11.6
41 mesothelioma, malignant 11.5
42 dowling-degos disease 11.5
43 ependymoma 11.5
44 neurofibroma 11.4
45 peritoneal mesothelioma 11.4
46 neuroma 11.4
47 malignant peritoneal mesothelioma 11.3
48 monosomy 22 11.3
49 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 11.3
50 perifolliculitis capitis abscedens et suffodiens, familial 11.3

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



Diseases related to Neurofibromatosis, Type Ii
Sources

Symptoms & Phenotypes for Neurofibromatosis, Type Ii

About this section

Human phenotypes related to Neurofibromatosis, Type Ii:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 very rare (1%) Very frequent (99-80%) HP:0001251
2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
3 vertigo 60 33 very rare (1%) Very frequent (99-80%) HP:0002321
4 tinnitus 60 33 very rare (1%) Very frequent (99-80%) HP:0000360
5 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
6 migraine 60 33 frequent (33%) Frequent (79-30%) HP:0002076
7 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
8 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
9 increased intracranial pressure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002516
10 corneal opacity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007957
11 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
12 subcutaneous nodule 60 33 occasional (7.5%) Occasional (29-5%) HP:0001482
13 sensory neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000763
14 abnormality of the retinal vasculature 60 33 occasional (7.5%) Occasional (29-5%) HP:0008046
15 multiple cafe-au-lait spots 60 33 occasional (7.5%) Occasional (29-5%) HP:0007565
16 dysgraphia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010526
17 astrocytoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0009592
18 meningioma 60 33 very rare (1%) Occasional (29-5%) HP:0002858
19 pseudoepiphyses of the metacarpals 60 33 occasional (7.5%) Occasional (29-5%) HP:0009193
20 occasional neurofibromas 60 33 occasional (7.5%) Occasional (29-5%) HP:0009595
21 papule 60 33 occasional (7.5%) Occasional (29-5%) HP:0200034
22 seizures 33 very rare (1%) HP:0001250
23 hearing impairment 33 very rare (1%) HP:0000365
24 retinal hamartoma 33 very rare (1%) HP:0009594
25 cafe-au-lait spot 33 very rare (1%) HP:0000957
26 juvenile posterior subcapsular lenticular opacities 33 very rare (1%) HP:0007935
27 ependymoma 33 very rare (1%) HP:0002888
28 unilateral vestibular schwannoma 33 very rare (1%) HP:0009590
29 cortical cataract 33 very rare (1%) HP:0100019
30 bilateral vestibular schwannoma 33 very rare (1%) HP:0009589
31 cranial nerve paralysis 60 Occasional (29-5%)
32 peripheral neuropathy 33 HP:0009830
33 neoplasm of the central nervous system 60 Occasional (29-5%)
34 neoplasm of the skin 60 Frequent (79-30%)
35 benign neoplasm of the central nervous system 60 Occasional (29-5%)
36 headache 33 HP:0002315
37 peripheral schwannoma 33 HP:0009593
38 epiretinal membrane 33 HP:0100014

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
headache

Neoplasia:
astrocytoma
meningioma
glioma
vestibular schwannoma (over 90% of patients)
ependymoma
more
Head And Neck Eyes:
retinal hamartoma
juvenile posterior subcapsular lenticular opacities
juvenile cortical cataract
epiretinal membranes
no lisch nodules

Neurologic Peripheral Nervous System:
peripheral neuropathy

Head And Neck Ears:
tinnitus
hearing loss

Skin Nails Hair Skin:
schwannoma
occasional cafe-au-lait spots
occasional neurofibroma

Clinical features from OMIM:

101000

UMLS symptoms related to Neurofibromatosis, Type Ii:


ataxia, pruritus, headache, tinnitus, exanthema

MGI Mouse Phenotypes related to Neurofibromatosis, Type Ii:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 CADM1 EPB41L3 ETV5 NF1 NF2 RDX
2 neoplasm MP:0002006 9.35 EPB41L3 IL1A NF1 NF2 TLR2
3 nervous system MP:0003631 9.23 CADM1 EPB41L3 ETV5 NF1 NF2 RDX
Sources

Drugs & Therapeutics for Neurofibromatosis, Type Ii

About this section

PubMedHealth treatment related to Neurofibromatosis, Type Ii: 64

People with acne often try out different things to improve the appearance of their skin. There are a lot of different recommendations when it comes to acne, involving things like facial toners, sunlight and specific diets.There are also a number of medications for acne. Some are applied to the skin, some are swallowed. Because you can buy them without a prescription, many of the products are heavily marketed. But advert ising campaigns often create unrealistic expectations. Some treatment approaches and medications have been proven to effectively reduce acne, while others have not.Unfortunately there are only a few good-quality studies comparing the various treatments with each other. So it is not possible to tell whether certain products are more effective than others. Most products have to be used for a long time before there is a noticeable improvement. And some have strong side effects.

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

(show top 50) (show all 481)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clindamycin Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 18323-44-9 29029
2
Benzoyl peroxide Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 94-36-0 7187
3
Lymecycline Approved, Investigational Phase 4,Phase 3 992-21-2 5280963
4
Minocycline Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 10118-90-8 5281021
5
Adapalene Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 106685-40-9 60164
6
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
7
Salicylic acid Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 69-72-7 338
8
Isotretinoin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 4759-48-2 5538 5282379
9
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 22916-47-8 4189
10
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Not Applicable 28014-46-2
11
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Not Applicable 57-63-6 5991
12
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-28-2 5757
13
Drospirenone Approved Phase 4,Phase 3,Phase 2,Not Applicable 67392-87-4 68873
14
Nicotinamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 98-92-0 936
15
Tazarotene Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 118292-40-3 5381
16
Zinc Approved, Investigational Phase 4,Phase 3,Early Phase 1,Not Applicable 7440-66-6 32051
17
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 564-25-0 54671203
18
Azelaic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 123-99-9 2266
19
Cyproterone Acetate Approved, Investigational Phase 4,Phase 3,Not Applicable 427-51-0
20
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 1,Not Applicable 9004-61-9 53477741
21
Caffeine Approved Phase 4,Phase 1 58-08-2 2519
22
Lidocaine Approved, Vet_approved Phase 4,Not Applicable 137-58-6 3676
23
Metformin Approved Phase 4,Phase 3,Not Applicable,Early Phase 1 657-24-9 14219 4091
24
Aminolevulinic acid Approved Phase 4,Phase 2,Phase 1,Not Applicable 106-60-5 137
25
Sodium Citrate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 68-04-2
26
Tocopherol Approved, Investigational Phase 4,Not Applicable 1406-66-2 14986
27
leucovorin Approved Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 6006 143
28
Dapsone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 80-08-0 2955
29
Tetracycline Approved, Vet_approved Phase 4,Phase 2 60-54-8 5353990
30
Norgestrel Approved Phase 4 6533-00-2 13109
31
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
32
Moxifloxacin Approved, Investigational Phase 4,Phase 1 354812-41-2, 151096-09-2 152946
33
Desogestrel Approved Phase 4 54024-22-5 40973
34
Ethanol Approved Phase 4,Phase 2,Phase 1,Not Applicable 64-17-5 702
35
Erythromycin Approved, Investigational, Vet_approved Phase 4,Phase 2 114-07-8 12560 441411
36
Resveratrol Approved, Experimental, Investigational Phase 4 501-36-0 445154
37
Chamomile Approved, Experimental, Investigational Phase 4
38
tannic acid Approved Phase 4,Phase 2 1401-55-4
39
Benzocaine Approved, Investigational Phase 4,Phase 2 94-09-7, 1994-09-7 2337
40
Coal tar Approved Phase 4,Phase 1,Not Applicable 8007-45-2
41
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
42
Prilocaine Approved Phase 4 721-50-6 4906
43
afatinib Approved Phase 4,Phase 2 850140-72-6, 439081-18-2 10184653
44
Racepinephrine Approved Phase 4,Phase 3,Phase 2 329-65-7 838
45
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2 51-43-4 5816
46
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
47
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2 2921-57-5
48
Mycophenolic acid Approved Phase 4 24280-93-1 446541
49
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2 302-25-0
50
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755

Interventional clinical trials:

(show top 50) (show all 773)
# Name Status NCT ID Phase Drugs
1 Safety and Tolerability of Acanya Gel in Combination With Atralin Gel for Acne Vulgaris Unknown status NCT01448733 Phase 4 Benzoyl peroxide 2.5%/clindamycin phosphate 1.2% in the morning with with tretinoin 0.05% gel in the evening
2 A Study Comparing Combination Clindamycin Phosphate/Tretinoin Gel Alone Versus With Benzoyl Peroxide Foaming Cloths for Facial Acne Unknown status NCT01422785 Phase 4 clindamycin phosphate 1.2%/tretinoin 0.025% gel alone;clindamycin phosphate 1.2%/tretinoin 0.025% gel plus benzoyl peroxide 6% foaming cloths
3 Clinical Study to Evaluate the Efficacy of Topical Medications Containing Benzoyl Peroxide and Sulfur in the Regression in the Short Time (24 Hours) of Moderate Acne Vulgaris Grade II (Pimples) Unknown status NCT01260571 Phase 4 Benzoyl peroxide and sulfur
4 Efficacy & Safety of Clindamycin and Tretinoin in Acne Unknown status NCT01111994 Phase 4 Clindamycin Phosphate 1.2% and Tretinoin 0.025% Gel
5 Safety and Efficacy Comparison of Minocycline Microgranules Versus Lymecycline in the Treatment of Mild to Moderate Acne Unknown status NCT00988026 Phase 4 Minocycline vs Lymecycline
6 Control of Therapy of Acne Papulopustulosa by Visible Light With Waterfiltered Infrared and / or Adapalen (Differin Gel) Unknown status NCT00237978 Phase 4 Adapalen
7 Efficacy and Safety of Low-dose Oral Isotretinoin for Seborrhea Unknown status NCT01139749 Phase 4 oral isotretinoin;salicylic acid and ciclopirox olamine
8 VSL#3 Treatment in Children With Crohn's Disease Unknown status NCT00367705 Phase 4
9 Comparison of Body Weight Change During Contraception With Belara and Yasmin Unknown status NCT01608698 Phase 4 30 mcg ethinylestradiol/2 mg chlormadinone acetate;30 mcg ethinylestradiol/3 mg drospirenone
10 Aczone Gel 7.5% in the Treatment of Acne Vulgaris in Patients With Skin of Color Not yet recruiting NCT03681470 Phase 4 Aczone Gel
11 Role of Vitamin D and Its Topical Analogues in Pathogenesis and Treatment of Acne Vulgaris Not yet recruiting NCT03866447 Phase 4 Vitamin D analog;Adapalene
12 Efficacy of Handheld Acne Heat Device Withdrawn NCT01613924 Phase 4
13 Tazarotene Plus Clindamycin vs. Adapalene Plus Clindamycin in the Treatment of Facial Acne Vulgaris Completed NCT02721173 Phase 4 Tazarotene 0.1% gel plus clindamycin 1% gel;Adapalene 0.1% gel plus clindamycin 1% gel
14 A Treatment Regimen for Student Athletes With Mild to Moderate Acne Vulgaris Completed NCT02249104 Phase 4 Adapalene/benzoyl peroxide gel, 0.1%/2.5%
15 Efficacy and Tolerability of Nicotinamide Plus Cream for Moderate Acne Vulgaris in Indonesia Completed NCT03626298 Phase 4 Adapalene;Nicotinamide, ABA and Zinc PCA;Placebos
16 Adherence to Study Medication Compared to Generic Topical Clindamycin Plus Generic Topical Tretinoin in Subjects With Mild to Moderate Acne Vulgaris Completed NCT01047189 Phase 4 clindamycin phosphate 1.2% and tretinoin 0.025%;clindamycin 1% gel;tretinoin 0.025% cream
17 A Trial of Pulse Dyed Laser (Chromogenex Regenlite Transform) in the Treatment of Inflammatory Acne Vulgaris Withdrawn NCT02647528 Phase 4
18 Treatment of Acne Vulgaris With Doryx Tablets Compared to Doxycyline Hyclate Completed NCT00635609 Phase 4 Doxycycline hyclate (Doryx);Doxycycline hyclate
19 Anti Propionibacterium(P.) Acnes Activity of Epiduo® Gel Compared to Benzoyl Peroxide (BPO) 2.5% Gel Completed NCT01188538 Phase 4 Epiduo gel;BPO
20 Comparative Antimicrobial Efficacy of Two Topical Acne Therapies for the Treatment of Facial Acne Completed NCT00841776 Phase 4 Duac;Ziana gel
21 Efficacy and Safety of Aczone 7.5% Gel in the Treatment of Truncal Acne Vulgaris Completed NCT02944461 Phase 4 Dapsone 7.5 % gel
22 A Study of Different Use Regimens Using Two Acne Treatments Completed NCT00907257 Phase 4 benzoyl peroxide wash;Tretinoin gel
23 The Use of Onexton in Moderate Acne Vulgaris for Patients With Skin of Color Completed NCT03402893 Phase 4 ONEXTON Topical Gel
24 Comparison of the Efficacy and Safety of Clindamycin + Benzoyl Peroxide Formulation With Azelaic Acid Formulation in the Treatment of Acne Vulgaris Completed NCT02058628 Phase 4 Clindamycin + BPO;Azelaic acid
25 A Treatment for Severe Inflammatory Acne Subjects Completed NCT02899000 Phase 4 Adapalene 0.3% / benzoyl peroxide 2.5% emulsion gel;Oral doxycycline hyclate
26 Comparison of Efficacy and Safety of Norgestimate-ethinyl Estradiol and Cyproterone Acetate-ethinyl Estradiol in the Treatment of Acne Vulgaris Completed NCT00752635 Phase 4 Norgestimate-ethinyl estradiol; Cyproterone acetate-ethinyl estradiol
27 Evaluation of Efficacy and Safety of Adapalene 0.1%/Benzoyl Peroxide 2.5% Gel in the Treatment of Acne Vulgaris Completed NCT01149330 Phase 4 Adapalene-BPO Gel
28 A Comparative Study of the Tolerability of Two Combination Therapies for the Treatment of Acne Completed NCT00887484 Phase 4 BENZOYL PEROXIDE/ CLINDAMYCIN;BENZOYL PEROXIDE/ ADAPALENE
29 Comparison Study of Topical Acne Regimens Completed NCT00913185 Phase 4 Acne Free, Proactiv
30 Study for Long-term Treatment of Acne Vulgaris With Skinoren Versus Differin Completed NCT01387048 Phase 4 skinoren;differin;skinoren
31 Evaluation of the Effectiveness, Safety, and Tolerability of Duac Akne Gel and Epiduo Gel in the Treatment of Facial Acne Vulgaris Completed NCT00757523 Phase 4 Epiduo Gel;Duac Gel
32 Comparative Efficacy and Safety of Benzoyl Peroxide Used in Combination With Clindamycin vs. Benzoyl Peroxide Used in Combination With Clindamycin and Doxycycline in the Treatment of Moderate Acne Completed NCT00837213 Phase 4 Benzoyl peroxide with clindamycin;Benzoyl peroxide with clindamycin and doxycycline
33 An Efficacy and Safety Study Comparing Oral Contraceptive Containing Norgestimate or Desogestrel for Acne Treatment Completed NCT01466673 Phase 4 Ethinyl estradiol/Norgestimate (EE/NGM);Ethinyl estradiol/Desogestrel (EE/DSG)
34 A Study of Dapsone Gel in Females With Skin of Color and Acne Vulgaris Completed NCT02032407 Phase 4 Dapsone Gel
35 Safety and Efficacy Trial of ACZONE (Dapsone) Gel, 7.5% in 9 to 11 Year-Old Patients With Acne Vulgaris Completed NCT02959970 Phase 4 dapsone gel
36 Adapalene 0.3% - Benzoyl Peroxide 2.5% Gel and Risk of Formation of Atrophic Acne Scars Completed NCT02735421 Phase 4 Adapalene 0.3% / BPO 2.5% gel;Vehicle gel
37 Efficacy and Safety Study of Finacea to Treat Acne Vulgaris and Post-Inflammatory Hyperpigmentation (PIH) Completed NCT01038869 Phase 4 Azelaic acid
38 Effect of Samples on Acne Treatment With Epiduo® Gel Completed NCT01504204 Phase 4 Adapalene + benzoyl peroxide samples;Adapalene + benzoyl peroxide from standard tube
39 A Study to Evaluate Tolerability of Two Topical Drug Products in the Treatment of Facial Acne Completed NCT00964223 Phase 4 Clindamycin and benzoyl peroxide gel (Duac® Topical Gel);benzoyl peroxide and adapalene gel (EPIDUO™ Gel)
40 Benzac 5% Gel in Combination With Cosmetic Products in Acne Vulgaris Completed NCT02589405 Phase 4 Benzoyl Peroxide
41 Phase IV Study to Gather More Information About the Safety of ACZONE Gel, 5% in Treating Subjects With Acne Who Have G6PD Deficiency Completed NCT00243542 Phase 4 ACZONE Gel, 5%;Vehicle
42 Comparison of Tazarotene and Minocycline Therapies for Maintenance of Facial Acne Vulgaris Completed NCT00145106 Phase 4 Tazarotene 0.1% gel + placebo capsule, Oral minocycline (100 mg capsule) + vehicle gel, Tazarotene 0.1% gel + oral minocycline (100 mg capsule)
43 Evaluation of Quality of Life, Efficacy, and Tolerance of Duac® Gel Compared to Differin® Gel in the Treatment of Acne Completed NCT00807014 Phase 4 Duac Gel;Differin gel
44 Assessment of Subjects' Efficacy and Experiences Using Adapalene BPO Gel in the Treatment of Acne Vulgaris Completed NCT01209949 Phase 4 Adapalene 0.1% and Benzoyl Peroxide 2.5% gel
45 A Phase 4, Single-Blind, Randomized, Study to Compare the Tolerability and Efficacy of 0.1% Tazorac Cream When Used in Combination With Either Duac Gel or Acanya Gel for the Treatment of Facial Acne Vulgaris Completed NCT01016977 Phase 4 Clindamycin 1%/Benzoyl Peroxide 5% and 0.1% tazarotene;clindamycin phosphate 1.2%/benzoyl peroxide 2.5% and 0.1% tazarotene
46 8 Week Study to Evaluate and Compare the Efficacy and Tolerability of MAXCLARITY II and MURAD To Treat Acne Completed NCT02524665 Phase 4
47 Comparison of Duac® Gel And Differin® Gel in Mild to Moderate Acne Vulgaris Completed NCT00160394 Phase 4 Duac® Gel / Differin® Gel
48 Combination Therapy With Differin® Gel 0.3% and Duac® (Clindamycin/Benzoyl Peroxide Gel) in Subjects With Acne Vulgaris Completed NCT00671749 Phase 4 adapalene gel, 0.3%;clindamycin/benzoyl peroxide gel
49 De Novo Lipogenesis of Sebaceous Glands in Acne Recruiting NCT02620813 Phase 4 Tretinoin;Isotretinoin
50 Anti-inflammatory Effects of Topical Erythromycin and Clindamycin in Acne Patients Recruiting NCT03883269 Phase 4 Erythromycin 4% topical gel formulation;Clindamycin 1% topical lotion formulation;70% topical ethanol solution

Search NIH Clinical Center for Neurofibromatosis, Type Ii

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Neurofibromatosis, Type Ii cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Neurofibromatosis, Type Ii:
Laviv azficel-T, dermal fibroblasts for scarring
Embryonic/Adult Cultured Cells Related to Neurofibromatosis, Type Ii:
Skin-derived fibroblasts PMIDs: 21287562 23211390 10805306

Cochrane evidence based reviews: acne vulgaris

Sources

Genetic Tests for Neurofibromatosis, Type Ii

About this section

Genetic tests related to Neurofibromatosis, Type Ii:

# Genetic test Affiliating Genes
1 Neurofibromatosis, Type 2 30 NF2
2 Acne 30
Sources

Anatomical Context for Neurofibromatosis, Type Ii

About this section

MalaCards organs/tissues related to Neurofibromatosis, Type Ii:

42
Skin, Ovary, Testes, Brain, Spinal Cord, Colon, Lung
Sources

Publications for Neurofibromatosis, Type Ii

About this section

Articles related to Neurofibromatosis, Type Ii:

(show top 50) (show all 2441)
# Title Authors Year
1
Standardized Photographic Documentation of Hidradenitis Suppurativa/Acne Inversa. ( 30368496 )
2019
2
Long-Wave Medical Infrared Thermography: A Clinical Biomarker of Inflammation in Hidradenitis Suppurativa/Acne Inversa. ( 30650424 )
2019
3
Efficacy of bisphosphonates in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: a prospective open study. ( 30767869 )
2019
4
Monoclonal Gammopathy of Undetermined Significance in a Patient With Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) Syndrome: Coincidence or Association? ( 30870251 )
2019
5
Survivin and insulin-like growth factor-I: potential role in the pathogenesis of acne and post-acne scar. ( 30675395 )
2019
6
Enhanced skin targeting of retinoic acid spanlastics: in vitro characterization and clinical evaluation in acne patients. ( 30501429 )
2019
7
Enhancement of lipid content and inflammatory cytokine secretion in SZ95 sebocytes by palmitic acid suggests a potential link between free fatty acids and acne aggravation. ( 30506807 )
2019
8
Microneedling by dermapen and glycolic acid peel for the treatment of acne scars: Comparative study. ( 30548170 )
2019
9
Patient selection criteria and innovative techniques for improving outcome and cosmesis in acne keloidalis nuchae lesion excision and primary closure. ( 30555880 )
2019
10
Long-term adalimumab efficacy in patients with moderate-to-severe hidradenitis suppurativa/acne inversa: 3-year results of a phase 3 open-label extension study. ( 29860040 )
2019
11
New Concepts, Concerns, and Creations in Acne. ( 30466681 )
2019
12
Approaches to limit systemic antibiotic use in acne: Systemic alternatives, emerging topical therapies, dietary modification, and laser and light-based treatments. ( 30296534 )
2019
13
Insights on the Use of Nanocarriers for Acne Alleviation. ( 30210000 )
2019
14
Effects of Intradermal Radiofrequency Treatment and Intense Pulsed Light Therapy in an Acne-induced Rabbit Ear Model. ( 30911021 )
2019
15
The Role of Topical Retinoids in Prevention and Treatment of Atrophic Acne Scarring: Understanding the Importance of Early Effective Treatment ( 30909329 )
2019
16
Treating Acne With Topical Antibiotics: Current Obstacles and the Introduction of Topical Minocycline as a New Treatment Option ( 30909327 )
2019
17
Adult acne in women is not associated with a specific type of Cutibacterium acnes. ( 30905801 )
2019
18
Real-world drug usage survival of spironolactone versus oral antibiotics for the management of female patients with acne. ( 30905798 )
2019
19
11-year old boy with facial hair, acne and deepened voice. ( 30898952 )
2019
20
Evolution and duration of nodules in severe nodular acne on the back: results from a four-week non-interventional, prospective study. ( 30891846 )
2019
21
Adapalene Gel 0.1% Versus Placebo as Prophylaxis for Anti-Epidermal Growth Factor Receptor-Induced Acne-Like Rash: A Randomized Left-Right Comparative Evaluation (APPEARANCE). ( 30890624 )
2019
22
Effectiveness of subcision using carboxytherapy plus fractional carbon dioxide laser resurfacing in the treatment of atrophic acne scars: Comparative split face study. ( 30889369 )
2019
23
Inner thigh friction as a cause of acne mechanica. ( 30883890 )
2019
24
Large prospective study on adult acne in Latin America and the Iberian Peninsula: risk factors, demographics, and clinical characteristics. ( 30883707 )
2019
25
Serum levels of androgens in acne & their role in acne severity. ( 30881413 )
2019
26
Propionibacterium acnes is a causative agent in periprosthetic infections - important implications for the treatment of acne vulgaris. ( 30873723 )
2019
27
"Anterior" chemabrasion for acne scars treatment. ( 30863133 )
2019
28
Willingness-to-pay and benefit-cost analysis of chemical peels for acne treatment in China. ( 30863024 )
2019
29
From pathogenesis of acne vulgaris to anti-acne agents. ( 30859308 )
2019
30
The efficacy of glycolic acid, salicylic acid, gluconolactone, and licochalcone A combined with 0.1% adapalene vs adapalene monotherapy in mild-to-moderate acne vulgaris: a double-blinded within-person comparative study. ( 30858720 )
2019
31
A Review and Update of Treatment Options Using the Acne Scar Classification System. ( 30856634 )
2019
32
What does acne genetics teach us about disease pathogenesis? ( 30854635 )
2019
33
How to Evaluate Acne in Reproductive-Age Women: An Epidemiological Study in Chinese Communities. ( 30854398 )
2019
34
An Overview of Acne Therapy, Part 2: Hormonal Therapy and Isotretinoin. ( 30850042 )
2019
35
An Overview of Acne Therapy, Part 1: Topical therapy, Oral Antibiotics, Laser and Light Therapy, and Dietary Interventions. ( 30850041 )
2019
36
New and emerging drugs for the treatment of acne vulgaris in adolescents. ( 30848961 )
2019
37
Minimise the regular laboratory monitoring during the systemic isotretinoin treatment: data of 704 patients with acne vulgaris. ( 30836808 )
2019
38
Transfollicular delivery of gold microparticles in healthy skin and acne vulgaris, assessed by in vivo reflectance confocal microscopy and optical coherence tomography. ( 30835885 )
2019
39
Polymethylmethacrylate Collagen Gel-Injectable Dermal Filler for Full Face Atrophic Acne Scar Correction. ( 30829754 )
2019
40
Psychiatric and Developmental Effects of Isotretinoin (Retinoid) Treatment for Acne Vulgaris. ( 30828405 )
2019
41
Optimization of hydrogel containing toluidine blue O for photodynamic therapy in treating acne. ( 30825010 )
2019
42
Atrophic acne scar: A process from altered metabolism of elastic fibers and collagen fibers based on TGF-β1 signaling. ( 30822364 )
2019
43
Novel Tretinoin 0.05% Lotion for the Once-daily Treatment of Moderate-to-Severe Acne Vulgaris in an Adult and Adolescent Female Population ( 30811141 )
2019
44
Efficacy of Autologous Platelet-Rich Plasma Combined With Ablative Fractional Carbon Dioxide Laser for Acne Scars: A Systematic Review and Meta-Analysis. ( 30809666 )
2019
45
Treatment of Atrophic Facial Acne Scars With Microneedling Followed by Polymethylmethacrylate-Collagen Gel Dermal Filler. ( 30807389 )
2019
46
Randomized Phase 3 Evaluation of Trifarotene 50 μG/G Cream Treatment Of Moderate Facial And Truncal ACNE. ( 30802558 )
2019
47
The efficacy of combined diluted calcium hydroxylapatite-based filler and an energy-based device in the treatment of facial atrophic acne scars. ( 30793355 )
2019
48
A Novel Combined Light-Based Treatment of Acne Vulgaris With 1,450-nm Diode Laser and 450-nm Blue Light. ( 30789515 )
2019
49
Facilitating Informed Treatment Decisions in Acne: A Pilot Study of a Patient Decision Aid. ( 30789037 )
2019
50
Antibiotic susceptibility of Propionibacterium acnes isolated from patients with acne in a public hospital in Southwest China: prospective cross-sectional study. ( 30782869 )
2019
Sources

Variations for Neurofibromatosis, Type Ii

About this section

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

76 (show all 16)
# Symbol AA change Variation ID SNP ID
1 NF2 p.Phe62Ser VAR_000810 rs121434261
2 NF2 p.Glu106Gly VAR_000813
3 NF2 p.Asn220Tyr VAR_000818
4 NF2 p.Thr352Met VAR_000821 rs764441073
5 NF2 p.Leu360Pro VAR_000822 rs74315492
6 NF2 p.Leu535Pro VAR_000825 rs74315493
7 NF2 p.Gln538Pro VAR_000826 rs74315494
8 NF2 p.Leu234Arg VAR_009123
9 NF2 p.Met77Val VAR_043011
10 NF2 p.Leu141Pro VAR_043012
11 NF2 p.Gly197Cys VAR_043013
12 NF2 p.Lys413Glu VAR_043014 rs766974263
13 NF2 p.Lys533Thr VAR_043015
14 NF2 p.Leu539His VAR_043016
15 NF2 p.Lys579Met VAR_043017
16 NF2 p.Cys133Arg VAR_065227

ClinVar genetic disease variations for Neurofibromatosis, Type Ii:

6 (show top 50) (show all 706)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF2 NM_000268.3(NF2): c.1012C> T (p.Arg338Cys) single nucleotide variant Uncertain significance rs761795291 GRCh37 Chromosome 22, 30067827: 30067827
2 NF2 NM_000268.3(NF2): c.1012C> T (p.Arg338Cys) single nucleotide variant Uncertain significance rs761795291 GRCh38 Chromosome 22, 29671838: 29671838
3 NF2 NM_000268.3(NF2): c.1346_1347delAA (p.Lys449Argfs) deletion Pathogenic rs1556001351 GRCh38 Chromosome 22, 29674841: 29674842
4 NF2 NM_000268.3(NF2): c.1346_1347delAA (p.Lys449Argfs) deletion Pathogenic rs1556001351 GRCh37 Chromosome 22, 30070830: 30070831
5 NF2 NM_000268.3(NF2): c.1635A> T (p.Glu545Asp) single nucleotide variant Uncertain significance rs1556003698 GRCh38 Chromosome 22, 29681499: 29681499
6 NF2 NM_000268.3(NF2): c.1635A> T (p.Glu545Asp) single nucleotide variant Uncertain significance rs1556003698 GRCh37 Chromosome 22, 30077488: 30077488
7 NF2 NM_000268.3(NF2): c.1739_1747delTCACCTTGC (p.Leu580_Leu582del) deletion Uncertain significance rs1060503674 GRCh38 Chromosome 22, 29694753: 29694761
8 NF2 NM_000268.3(NF2): c.1739_1747delTCACCTTGC (p.Leu580_Leu582del) deletion Uncertain significance rs1060503674 GRCh37 Chromosome 22, 30090742: 30090750
9 NF2 NM_000268.3(NF2): c.1548G> T (p.Arg516=) single nucleotide variant Likely benign rs534398531 GRCh38 Chromosome 22, 29678297: 29678297
10 NF2 NM_000268.3(NF2): c.1548G> T (p.Arg516=) single nucleotide variant Likely benign rs534398531 GRCh37 Chromosome 22, 30074286: 30074286
11 NF2 NM_000268.3(NF2): c.1018G> T (p.Ala340Ser) single nucleotide variant Uncertain significance rs780430071 GRCh38 Chromosome 22, 29671844: 29671844
12 NF2 NM_000268.3(NF2): c.1018G> T (p.Ala340Ser) single nucleotide variant Uncertain significance rs780430071 GRCh37 Chromosome 22, 30067833: 30067833
13 NF2 NM_000268.3(NF2): c.363+3A> T single nucleotide variant Uncertain significance rs1060503669 GRCh38 Chromosome 22, 29639215: 29639215
14 NF2 NM_000268.3(NF2): c.363+3A> T single nucleotide variant Uncertain significance rs1060503669 GRCh37 Chromosome 22, 30035204: 30035204
15 NF2 NM_000268.3(NF2): c.1774T> C (p.Phe592Leu) single nucleotide variant Uncertain significance rs764972504 GRCh38 Chromosome 22, 29694788: 29694788
16 NF2 NM_000268.3(NF2): c.1774T> C (p.Phe592Leu) single nucleotide variant Uncertain significance rs764972504 GRCh37 Chromosome 22, 30090777: 30090777
17 NF2 NM_000268.3(NF2): c.1575A> G (p.Lys525=) single nucleotide variant Uncertain significance rs1060503673 GRCh38 Chromosome 22, 29681439: 29681439
18 NF2 NM_000268.3(NF2): c.1575A> G (p.Lys525=) single nucleotide variant Uncertain significance rs1060503673 GRCh37 Chromosome 22, 30077428: 30077428
19 NF2 NM_000268.3(NF2): c.1575-5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs199622889 GRCh38 Chromosome 22, 29681434: 29681434
20 NF2 NM_000268.3(NF2): c.1575-5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs199622889 GRCh37 Chromosome 22, 30077423: 30077423
21 NF2 NM_000268.3(NF2): c.1494C> T (p.Phe498=) single nucleotide variant Likely benign rs1060504990 GRCh38 Chromosome 22, 29678243: 29678243
22 NF2 NM_000268.3(NF2): c.1494C> T (p.Phe498=) single nucleotide variant Likely benign rs1060504990 GRCh37 Chromosome 22, 30074232: 30074232
23 NF2 NM_000268.3(NF2): c.1396C> G (p.Arg466Gly) single nucleotide variant Uncertain significance rs74315504 GRCh38 Chromosome 22, 29674891: 29674891
24 NF2 NM_000268.3(NF2): c.1396C> G (p.Arg466Gly) single nucleotide variant Uncertain significance rs74315504 GRCh37 Chromosome 22, 30070880: 30070880
25 NF2 NM_000268.3(NF2): c.1392G> A (p.Ala464=) single nucleotide variant Likely benign rs375819833 GRCh38 Chromosome 22, 29674887: 29674887
26 NF2 NM_000268.3(NF2): c.1392G> A (p.Ala464=) single nucleotide variant Likely benign rs375819833 GRCh37 Chromosome 22, 30070876: 30070876
27 NF2 NM_000268.3(NF2): c.798C> T (p.Tyr266=) single nucleotide variant Likely benign rs917257652 GRCh38 Chromosome 22, 29661327: 29661327
28 NF2 NM_000268.3(NF2): c.798C> T (p.Tyr266=) single nucleotide variant Likely benign rs917257652 GRCh37 Chromosome 22, 30057316: 30057316
29 NF2 NM_000268.3(NF2): c.354C> T (p.Phe118=) single nucleotide variant Likely benign rs756564761 GRCh38 Chromosome 22, 29639203: 29639203
30 NF2 NM_000268.3(NF2): c.354C> T (p.Phe118=) single nucleotide variant Likely benign rs756564761 GRCh37 Chromosome 22, 30035192: 30035192
31 NF2 NM_000268.3(NF2): c.246G> A (p.Leu82=) single nucleotide variant Benign/Likely benign rs371270318 GRCh38 Chromosome 22, 29639095: 29639095
32 NF2 NM_000268.3(NF2): c.246G> A (p.Leu82=) single nucleotide variant Benign/Likely benign rs371270318 GRCh37 Chromosome 22, 30035084: 30035084
33 NF2 NM_000268.3(NF2): c.1752C> T (p.Ser584=) single nucleotide variant Benign rs370999558 GRCh38 Chromosome 22, 29694766: 29694766
34 NF2 NM_000268.3(NF2): c.1752C> T (p.Ser584=) single nucleotide variant Benign rs370999558 GRCh37 Chromosome 22, 30090755: 30090755
35 NF2 NM_000268.3(NF2): c.1446G> A (p.Pro482=) single nucleotide variant Uncertain significance rs753751373 GRCh38 Chromosome 22, 29674941: 29674941
36 NF2 NM_000268.3(NF2): c.1446G> A (p.Pro482=) single nucleotide variant Uncertain significance rs753751373 GRCh37 Chromosome 22, 30070930: 30070930
37 NF2 NM_000268.3(NF2): c.1386C> T (p.Arg462=) single nucleotide variant Conflicting interpretations of pathogenicity rs138354622 GRCh38 Chromosome 22, 29674881: 29674881
38 NF2 NM_000268.3(NF2): c.1386C> T (p.Arg462=) single nucleotide variant Conflicting interpretations of pathogenicity rs138354622 GRCh37 Chromosome 22, 30070870: 30070870
39 NF2 NM_000268.3(NF2): c.1416C> T (p.Leu472=) single nucleotide variant Benign/Likely benign rs148776784 GRCh38 Chromosome 22, 29674911: 29674911
40 NF2 NM_000268.3(NF2): c.1416C> T (p.Leu472=) single nucleotide variant Benign/Likely benign rs148776784 GRCh37 Chromosome 22, 30070900: 30070900
41 NF2 NM_000268.3(NF2): c.1311A> G (p.Ala437=) single nucleotide variant Likely benign rs144628209 GRCh38 Chromosome 22, 29673457: 29673457
42 NF2 NM_000268.3(NF2): c.1311A> G (p.Ala437=) single nucleotide variant Likely benign rs144628209 GRCh37 Chromosome 22, 30069446: 30069446
43 NF2 NM_000268.3(NF2): c.1290G> A (p.Val430=) single nucleotide variant Likely benign rs756041768 GRCh38 Chromosome 22, 29673436: 29673436
44 NF2 NM_000268.3(NF2): c.1290G> A (p.Val430=) single nucleotide variant Likely benign rs756041768 GRCh37 Chromosome 22, 30069425: 30069425
45 NF2 NM_000268.3(NF2): c.1215T> G (p.Ala405=) single nucleotide variant Likely benign rs772219612 GRCh38 Chromosome 22, 29673361: 29673361
46 NF2 NM_000268.3(NF2): c.1215T> G (p.Ala405=) single nucleotide variant Likely benign rs772219612 GRCh37 Chromosome 22, 30069350: 30069350
47 NF2 NM_000268.3(NF2): c.1253G> A (p.Arg418His) single nucleotide variant Uncertain significance rs548217466 GRCh38 Chromosome 22, 29673399: 29673399
48 NF2 NM_000268.3(NF2): c.1253G> A (p.Arg418His) single nucleotide variant Uncertain significance rs548217466 GRCh37 Chromosome 22, 30069388: 30069388
49 NF2 NM_000268.3(NF2): c.1052G> A (p.Arg351His) single nucleotide variant Uncertain significance rs771675702 GRCh38 Chromosome 22, 29671878: 29671878
50 NF2 NM_000268.3(NF2): c.1052G> A (p.Arg351His) single nucleotide variant Uncertain significance rs771675702 GRCh37 Chromosome 22, 30067867: 30067867

Copy number variations for Neurofibromatosis, Type Ii from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 163629 22 29600000 32200000 Copy number NF2 Neurofibromatosis type 2
2 163466 22 28329544 28424589 Deletion loss NF2
3 163465 22 28329544 28424589 Deletion loss NF2
Sources

Expression for Neurofibromatosis, Type Ii

About this section
Search GEO for disease gene expression data for Neurofibromatosis, Type Ii.
Sources

Pathways for Neurofibromatosis, Type Ii

About this section

Pathways related to Neurofibromatosis, Type Ii according to KEGG:

38
# Name Kegg Source Accession
1 Hippo signaling pathway hsa04390

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

# Super pathways Score Top Affiliating Genes
1
Cytoskeletal Signaling 4
12.16 EZR MSN NF2 RDX
2
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 23
Show member pathways
 11.76 EZR IL1A MSN RDX TLR2
3
Proteoglycans in cancer 38
11.76 EZR MSN RDX TLR2
4
L1CAM interactions 67
Show member pathways
 11.68 EZR MSN RDX
5
Endocytic Trafficking of EGFR 65
Show member pathways
 11.39 EZR MSN RDX
6
Tight junction 38
11.25 EZR MSN NF2 RDX SLC9A3R1
7
Cytoskeleton remodeling_RalA regulation pathway 23
11.15 EZR MSN RDX
8
Syndecan-2-mediated signaling events 1
10.98 EZR NF1
9
RhoA signaling pathway 1
10.74 EZR MSN RDX
10
G-protein signaling_Rap2B regulation pathway 23
10.68 EZR IL1A MSN RDX
Sources

GO Terms for Neurofibromatosis, Type Ii

About this section

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.91 EZR MSN NF2 RDX SLC9A3R1 TLR2
2 apical plasma membrane GO:0016324 9.8 EZR MSN RDX SLC9A3R1
3 basolateral plasma membrane GO:0016323 9.73 CADM1 EZR MSN
4 vesicle GO:0031982 9.72 EZR MSN SLC9A3R1
5 myelin sheath GO:0043209 9.71 EZR MSN RDX
6 cell body GO:0044297 9.63 EZR NF2 TLR2
7 ruffle GO:0001726 9.62 EZR NF2 RDX SLC9A3R1
8 microvillus GO:0005902 9.56 EZR MSN RDX SLC9A3R1
9 microvillus membrane GO:0031528 9.54 EZR MSN SLC9A3R1
10 sperm midpiece GO:0097225 9.52 DEFB1 SLC9A3R1
11 uropod GO:0001931 9.51 EZR MSN
12 invadopodium GO:0071437 9.48 EZR MSN
13 cell periphery GO:0071944 9.46 EZR MSN RDX SLC9A3R1
14 cell tip GO:0051286 9.4 EZR RDX
15 apical part of cell GO:0045177 9.35 EZR MSN NF2 RDX SLC9A3R1
16 filopodium GO:0030175 9.02 EZR MSN NF2 RDX SLC9A3R1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.92 DEFB1 DEFB4A IL1A TLR2
2 negative regulation of cell proliferation GO:0008285 9.92 IL1A NF1 NF2 SLC9A3R1 TLR2
3 positive regulation of gene expression GO:0010628 9.91 EZR IL1A MSN RDX TLR2
4 protein localization to plasma membrane GO:0072659 9.8 EPB41L3 EZR RDX SLC9A3R1
5 actin cytoskeleton organization GO:0030036 9.77 NF1 NF2 SLC9A3R1
6 negative regulation of cell migration GO:0030336 9.75 NF1 NF2 SLC9A3R1
7 defense response to Gram-positive bacterium GO:0050830 9.74 DEFB1 DEFB4A TLR2
8 regulation of cell shape GO:0008360 9.72 EPB41L3 EZR MSN RDX SLC9A3R1
9 microvillus assembly GO:0030033 9.65 EZR RDX SLC9A3R1
10 establishment of endothelial barrier GO:0061028 9.63 EZR MSN RDX
11 cAMP-mediated signaling GO:0019933 9.62 DEFB1 SLC9A3R1
12 leukocyte cell-cell adhesion GO:0007159 9.61 EZR MSN
13 positive regulation of cytokine secretion GO:0050715 9.61 IL1A CADM1
14 establishment of epithelial cell apical/basal polarity GO:0045198 9.61 EZR MSN SLC9A3R1
15 negative regulation of MAPK cascade GO:0043409 9.6 NF1 NF2
16 negative regulation of cell-matrix adhesion GO:0001953 9.58 NF1 NF2
17 positive regulation of cellular protein catabolic process GO:1903364 9.58 EZR MSN RDX
18 protein kinase A signaling GO:0010737 9.56 EZR RDX
19 cytoskeletal anchoring at plasma membrane GO:0007016 9.55 EPB41L3 EZR
20 membrane to membrane docking GO:0022614 9.54 EZR MSN
21 gland morphogenesis GO:0022612 9.54 EZR MSN SLC9A3R1
22 positive regulation of early endosome to late endosome transport GO:2000643 9.43