Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
NF2
MCID: NRF023
MIFTS: 77

Neurofibromatosis, Type Ii (NF2)

Categories: Bone 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
Sources

Aliases & Classifications for Neurofibromatosis, Type Ii

About this section

MalaCards integrated aliases for Neurofibromatosis, Type Ii:

Name: Neurofibromatosis, Type Ii 56 37
Acne 12 74 29 42 15 62 17 71 32
Acne Vulgaris 12 74 54 43 15 71 32
Nf2 56 12 24 52 25 58 73
Neurofibromatosis Type 2 74 52 25 58 36 54
Neurofibromatosis 2 12 24 25 73 43 71
Bilateral Acoustic Neurofibromatosis 56 12 52 25 58
Neurofibromatosis, Type 2 56 29 13 6 39
Neurofibromatosis Type Ii 12 74 24 52 25
Central Neurofibromatosis 12 25 58 73
Acne Varioliformis 12 71 32
Banf 56 12 25
Familial Acoustic Neuromas 12 25
Acn 56 12
Bilateral Acoustic Neurofibromatosis; Banf 56
Acoustic Neurinoma, Bilateral; Acn 56
Neurofibromatosis, Central Type 56
Acoustic Schwannomas, Bilateral 56
Schwannoma, Acoustic, Bilateral 25
Bilateral Acoustic Schwannomas 12
Acoustic Schwannomas Bilateral 52
Neurofibromatosis Central Type 52
Acoustic Neurinoma, Bilateral 56
Bilateral Acoustic Neurinoma 12
Acoustic Neurinoma Bilateral 52
Frontalis Acne 12

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
neurofibromatosis, type ii:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is close to 100%. virtually all individuals who have a germline pathogenic variant develop the disease in an average lifetime....

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases Neuronal diseases Eye diseases Ear diseases Cardiovascular diseases Nephrological diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Neurofibromatosis, Type Ii

About this section
Genetics Home Reference : 25 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. The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, these tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.

MalaCards based summary : Neurofibromatosis, Type Ii, also known as acne, is related to neurofibromatosis, type iv, of riccardi and alopecia, androgenetic, 1, 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 Lymecycline and Hydroquinone have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and brain, 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.

NIH Rare Diseases : 52 Neurofibromatosis type 2 (NF2) is a disorder characterized by the growth of noncancerous tumors of the nervous system. Almost all people affected by NF2 develop bilateral (affecting both sides) vestibular schwannomas by age 30 years; however, other tumors of the central nervous system (the brain and spinal cord) are common, as well. The signs and symptoms vary from person to person and generally depend on the size, location and number of tumors. NF2 is caused by changes (mutations ) in the NF2 gene and is inherited in an autosomal dominant manner. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo ) mutations in the gene; these cases occur in people with no history of the disorder in their family. The treatment is based the signs and symptoms present in each person.

OMIM : 56 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)

MedlinePlus : 42 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

KEGG : 36 Neurofibromatosis 2 (NF2) is a rare autosomal dominant multiple neoplasia syndrome that is caused by inactivating mutations of the NF2 tumour suppressor gene. The course of the disease is usually progressive, though variable, causing significant morbidity associated with deafness, blindness, brain stem compression, gait instability, and paralysis. Onset typically occurs while a patient is in their 20s. Vestibular schwannomas, usually bilateral, occur in more than 90% of adult patients and intracranial meningiomas occur in about 50% of patients.

UniProtKB/Swiss-Prot : 73 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 : 62 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 : 74 Neurofibromatosis type II (also known as MISME syndrome - multiple inherited schwannomas, meningiomas,... more...

GeneReviews: NBK1201
Sources

Related Diseases for Neurofibromatosis, Type Ii

About this section

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 979)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type iv, of riccardi 33.1 RDX NF2 NF1 MSN EZR
2 alopecia, androgenetic, 1 32.9 SRD5A1 SHBG
3 neurilemmoma of the fifth cranial nerve 32.8 NF2 NF1
4 brain cancer 32.4 NF2 NF1 EZR EPB41L3 CD44
5 spinal cord ependymoma 32.4 NF2 EPB41L3
6 cellular schwannoma 32.3 NF2 NF1
7 epithelioid neurofibroma 32.3 NF2 NF1
8 amyloid tumor 32.3 NF2 NF1
9 trigeminal nerve neoplasm 32.3 NF2 NF1
10 peripheral nerve schwannoma 32.2 NF2 NF1
11 plexiform schwannoma 32.2 NF2 NF1
12 small intestine leiomyoma 32.2 NF2 NF1
13 orbital cancer 32.2 NF2 NF1
14 polyp of corpus uteri 32.2 NF2 NF1
15 rete ovarii adenoma 32.1 NF2 NF1
16 rete ovarii neoplasm 32.1 NF2 NF1
17 optic nerve neoplasm 32.1 NF2 NF1
18 simpson-golabi-behmel syndrome, type 1 32.1 NF2 DEFB1 CD44
19 spinal cancer 32.1 NF2 NF1 EPB41L3
20 spinal canal and spinal cord meningioma 32.1 NF2 NF1
21 nervous system benign neoplasm 32.1 RDX NF2 NF1 MSN
22 schwannoma of twelfth cranial nerve 32.0 NF2 NF1
23 adult malignant schwannoma 31.9 NF2 NF1
24 hypoglossal nerve disease 31.8 NF2 NF1
25 skin disease 31.7 TLR2 SIGLEC5 PPARA IL1A DEFB4A
26 spinal cord glioma 31.4 NF2 EPB41L3
27 sebaceous gland disease 31.1 TLR2 SIGLEC5 SHBG PSTPIP1 DEFB4A
28 candidiasis 31.1 TLR2 DEFB4A DEFB1
29 proteasome-associated autoinflammatory syndrome 1 30.8 TLR2 PPARA IL1A
30 pathologic nystagmus 30.8 RDX MSN EZR
31 spinal meningioma 30.7 NF2 NF1
32 neurilemmoma 30.7 RDX NF2 NF1 MSN EZR
33 bacterial infectious disease 30.7 TLR2 IL1A DEFB4A DEFB1
34 acoustic neuroma 30.6 RDX NF2 NF1 MSN EZR
35 vaginitis 30.6 TLR2 SIGLEC5 DEFB4A
36 vulvovaginal candidiasis 30.6 TLR2 DEFB4A DEFB1
37 meningioma, familial 30.4 RDX NF2 NF1 MSN EZR EPB41L3
38 meningioma, radiation-induced 30.4 RDX NF2 MSN EZR EPB41L3 CADM1
39 bacterial vaginosis 30.4 TLR2 IL1A DEFB4A
40 periodontitis 30.3 TLR2 IL1A DEFB4A DEFB1
41 inflammatory bowel disease 30.3 TLR2 PSTPIP1 PPARA IL1A DEFB4A DEFB1
42 androgen insensitivity, partial 30.2 SRD5A1 SHBG
43 eye disease 29.7 TLR2 PPARA IL1A DEFB4A DEFB1 CD44
44 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.8
45 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 12.7
46 acne inversa, familial, 3 12.7
47 acne inversa, familial, 1 12.7
48 acne inversa, familial, 2, with or without dowling-degos disease 12.7
49 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome 12.3
50 acne, adult 12.3

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:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 very rare (1%) Very frequent (99-80%) HP:0001251
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 vertigo 58 31 very rare (1%) Very frequent (99-80%) HP:0002321
4 tinnitus 58 31 very rare (1%) Very frequent (99-80%) HP:0000360
5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
6 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
7 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
8 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
9 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
10 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
11 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
12 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
13 papule 58 31 occasional (7.5%) Occasional (29-5%) HP:0200034
14 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
15 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
16 dysgraphia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010526
17 astrocytoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0009592
18 meningioma 58 31 very rare (1%) Occasional (29-5%) HP:0002858
19 pseudoepiphyses of the metacarpals 58 31 occasional (7.5%) Occasional (29-5%) HP:0009193
20 occasional neurofibromas 58 31 occasional (7.5%) Occasional (29-5%) HP:0009595
21 abnormal retinal vascular morphology 31 occasional (7.5%) HP:0008046
22 seizures 31 very rare (1%) HP:0001250
23 hearing impairment 31 very rare (1%) HP:0000365
24 cafe-au-lait spot 31 very rare (1%) HP:0000957
25 retinal hamartoma 31 very rare (1%) HP:0009594
26 ependymoma 31 very rare (1%) HP:0002888
27 juvenile posterior subcapsular lenticular opacities 31 very rare (1%) HP:0007935
28 bilateral vestibular schwannoma 31 very rare (1%) HP:0009589
29 unilateral vestibular schwannoma 31 very rare (1%) HP:0009590
30 cortical cataract 31 very rare (1%) HP:0100019
31 cranial nerve paralysis 58 Occasional (29-5%)
32 peripheral neuropathy 31 HP:0009830
33 abnormality of the retinal vasculature 58 Occasional (29-5%)
34 neoplasm of the central nervous system 58 Occasional (29-5%)
35 headache 31 HP:0002315
36 neoplasm of the skin 58 Frequent (79-30%)
37 benign neoplasm of the central nervous system 58 Occasional (29-5%)
38 peripheral schwannoma 31 HP:0009593
39 epiretinal membrane 31 HP:0100014

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
headache

Neoplasia:
glioma
astrocytoma
meningioma
ependymoma
vestibular schwannoma (over 90% of patients)
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell migration GR00055-A-3 8.92 NF1 NF2 PXN RDX

MGI Mouse Phenotypes related to Neurofibromatosis, Type Ii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 CADM1 CD44 EPB41L3 ETV5 NF1 NF2
2 liver/biliary system MP:0005370 9.8 CD44 NF1 NF2 PPARA RDX SPTBN1
3 neoplasm MP:0002006 9.7 CD44 EPB41L3 IL1A NF1 NF2 SPTBN1
4 renal/urinary system MP:0005367 9.5 CD44 ETV5 NF1 NF2 PPARA SPTBN1
5 reproductive system MP:0005389 9.28 CADM1 CD44 EPB41L3 ETV5 NF1 NF2
Sources

Drugs & Therapeutics for Neurofibromatosis, Type Ii

About this section

PubMed Health treatment related to Neurofibromatosis, Type Ii: 62

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 468)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lymecycline Approved, Investigational Phase 4 992-21-2 5280963
2
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
3
carbamide peroxide Approved Phase 4 124-43-6
4
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
5
Azelaic acid Approved Phase 4 123-99-9 2266
6
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
7
Norgestrel Approved Phase 4 6533-00-2 13109
8
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
9
Desogestrel Approved Phase 4 54024-22-5 40973
10
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
11
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
12
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
13
Petrolatum Approved, Investigational Phase 4 8009-03-8
14
Desonide Approved, Investigational Phase 4 638-94-8 5311066
15
Loteprednol Approved, Experimental Phase 4 82034-46-6, 129260-79-3 444025 9865442
16
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
17
Aminolevulinic acid Approved Phase 4 106-60-5 137
18
leucovorin Approved Phase 4 58-05-9 6006 143
19
Dapsone Approved, Investigational Phase 4 80-08-0 2955
20
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
21
Polyestradiol phosphate Approved Phase 4 28014-46-2
22
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
23
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
24
Drospirenone Approved Phase 4 67392-87-4 68873
25
Chamomile Approved, Experimental, Investigational Phase 4
26
Resveratrol Approved, Experimental, Investigational Phase 4 501-36-0 445154
27
Caffeine Approved Phase 4 58-08-2 2519
28
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560 441411
29
Adalimumab Approved Phase 4 331731-18-1 16219006
30
Metformin Approved Phase 4 657-24-9 4091 14219
31
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
32
Acetaminophen Approved Phase 4 103-90-2 1983
33
Adapalene Approved Phase 4 106685-40-9 60164
34
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
35
Sage Approved Phase 4
36
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
37
Tazarotene Approved, Investigational Phase 4 118292-40-3 5381
38
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
39
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
40
Racepinephrine Approved Phase 4 329-65-7 838
41
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
42
Prilocaine Approved Phase 4 721-50-6 4906
43
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
44
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
45 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
46
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
47
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
48
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
49
Mycophenolic acid Approved Phase 4 24280-93-1 446541
50
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795

Interventional clinical trials:

(show top 50) (show all 807)
# Name Status NCT ID Phase Drugs
1 A Pilot Study to Evaluate the Safety and Tolerability of CeraVe® Lotion Followed by Fixed Dose Clindamycin Phosphate 1.2% / Benzoyl Peroxide 2.5% Gel in the Morning in Combination With CeraVe® Lotion Followed by Tretinoin 0.05% Gel in the Evening for the Treatment of Facial 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 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
3 A Pilot Study to Evaluate the Efficacy of Fixed Dose Combination Clindamycin Phosphate 1.2%/Tretinoin 0.025% Gel Alone Versus Fixed Dose Combination Clindamycin Phosphate 1.2%/Tretinoin 0.025% Gel Plus Benzoyl Peroxide 6% Foaming Cloths in the Treatment of Facial Acne Vulgaris 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
4 Control of Therapy of Acne Papulopustulosa by Visible Light With Waterfiltered Infrared and / or Adapalen (Differin Gel) Unknown status NCT00237978 Phase 4 Adapalen
5 Safety and Efficacy Comparison of Minocycline Microgranules vs Lymecycline in the Treatment of Mild to Moderate Acne. Randomized, Double Blind, Parallel and Prospective Clinical Trial for 8 Weeks Unknown status NCT00988026 Phase 4 Minocycline vs Lymecycline
6 Efficacy & Safety of Clindamycin Phosphase 1.2% and Tretinoin 0.025% Gel vs. Vehicle for the Treatment of Acne and Acne-Induced Post Inflammatory Hyperpigmentation in Patients With Skin of Color Unknown status NCT01111994 Phase 4 Clindamycin Phosphate 1.2% and Tretinoin 0.025% Gel
7 Efficacy & Safety of Azelaic Acid 15% Gel vs. Hydroquinone 4% Cream in the Treatment of Melasma Unknown status NCT00927771 Phase 4 azelaic acid gel;hydroquinone cream
8 A Randomized, Double-blind, Placebo-controlled, Multi-center Clinical Trials to Evaluate the Efficacy and Safety of Runzao Zhiyang Capsule in Treating Chronic Eczema Unknown status NCT02601222 Phase 4 Runzao zhiyang capsule;Runzaozhiyang capsule agent simulation;Urea cream
9 A Phase IV, Randomised, Multicentre, Double-blind, Study to Evaluate the Clinical Utility of Prospective Genetic Screening (HLA-B*1301) for Susceptibility to Dapsone Hypersensitivity Syndrome Unknown status NCT02550080 Phase 4 Dapsone
10 Clinical, Laboratorial and Quality of Life Trial to Evaluate the Efficacy and Safety of Low-dose Oral Isotretinoin for Seborrhea. Unknown status NCT01139749 Phase 4 oral isotretinoin;salicylic acid and ciclopirox olamine
11 Double-blind Placebo Controlled Trial of VSL#3 in Children With Crohn's Disease Unknown status NCT00367705 Phase 4
12 A Study of Dapsone Gel in Females With Skin of Color and Acne Vulgaris Completed NCT02032407 Phase 4 Dapsone Gel
13 Phase IV Clinical Study Of Clindamycin Phosphate Topical Gel In The Treatment Of Acne Vulgaris Completed NCT00219570 Phase 4 clindamycin;nadifloxacin
14 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
15 An Open-Label Phase 4 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
16 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
17 Comparison of Efficacy and Safety of Tricilest (Norgestimate-ethinyl Estradiol) and Diane-35 (Cyproterone Acetate-ethinyl Estradiol) in the Treatment of Acne Vulgaris Completed NCT00752635 Phase 4 Norgestimate-ethinyl estradiol; Cyproterone acetate-ethinyl estradiol
18 Comparative Antimicrobial Efficacy of Two Topical Acne Therapies for the Treatment of Moderate to Moderately Severe Facial Acne Vulgaris Completed NCT00841776 Phase 4 Duac;Ziana gel
19 A Clinical Assessment of Combination Therapy With Differin® Gel, 0.3% With Duac® (Clindamycin/Benzoyl Peroxide Gel) in Subjects With Acne Vulgaris Completed NCT00671749 Phase 4 adapalene gel, 0.3%;clindamycin/benzoyl peroxide gel
20 Dapsone Gel 5% and Tretinoin Gel 0.025% Versus Tretinoin Gel 0.025% Monotherapy for Facial Acne Vulgaris Completed NCT00835198 Phase 4 Dapsone; Tretinoin;Tretinoin
21 Dapsone Gel 5% and Tazarotene Cream 0.1% Versus Tazarotene Cream 0.1% Monotherapy for Facial Acne Vulgaris Completed NCT00834210 Phase 4 Dapsone;Tazarotene
22 Anti P. Acnes Activity of Epiduo® Gel Compared to Benzoyl Peroxide (BPO) 2.5% Gel in the Treatment of Subjects With Acne Vulgaris Completed NCT01188538 Phase 4 Epiduo gel;BPO
23 Efficacy and Safety of Finacea in the Treatment of Post-Inflammatory Hyperpigmentation and Acne Vulgaris Completed NCT01038869 Phase 4 Azelaic acid
24 A Pilot, Multi-Center, Patient Preference Study Comparing Two Clindamycin/Benzoyl Peroxide Gels. Completed NCT00377000 Phase 4 clindamycin 1% / benzoyl peroxide 5% gel pump;clindamycin 1% / benzoyl peroxide 5% tube
25 Randomized, Open-label Study to Evaluate the Efficacy and Safety of Doryx Tablets Compared to Doxycycline Hyclate in the Treatment of Acne Vulgaris. Completed NCT00635609 Phase 4 Doxycycline hyclate (Doryx);Doxycycline hyclate
26 A Multi-center, Randomized, Evaluator-blind, Parallel-group Evaluation of the Efficacy, Safety, and Tolerability of Duac Akne Gel and Epiduo Gel in the Topical Treatment of Facial Acne Vulgaris Completed NCT00757523 Phase 4 Epiduo Gel;Duac Gel
27 An Analysis of Adherence and Associated Factors in Subjects Undergoing Differin® Gel, 0.1% Treatment of Moderate to Severe Acne Vulgaris. Completed NCT00437151 Phase 4
28 A Multi-center, Randomized, Vehicle-controlled, Double-blind, Study to Evaluate the Safety and Efficacy of Epiduo® (Adapalene and Benzoyl Peroxide) Gel 0.1%/2.5% Administered Once Daily for the Treatment of Subjects 9 to 11 Years of Age With Acne Vulgaris Completed NCT01138735 Phase 4 adapalene/benzoyl peroxide;Topical Gel Vehicle
29 Adherence to ZIANA (Clindamycin Phosphate 1.2% With Tretinoin 0.025%)Gel 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
30 Multi-Centre, Single-Blind, Parallel Group, Clinical Evaluation of the Efficacy and Safety of Duac® Gel And Differin® Gel in the Topical Treatment of Mild to Moderate Acne Vulgaris Completed NCT00160394 Phase 4 Duac® Gel / Differin® Gel
31 Acne Free vs. Proactiv for the Treatment of Moderately Severe Acne Vulgaris Completed NCT00913185 Phase 4 Acne Free, Proactiv
32 Efficacy and Tolerability of Nicotinamide Plus Cream for Moderate Acne Vulgaris in Indonesia: A Multicenter Clinical Trial Completed NCT03626298 Phase 4 Adapalene;Nicotinamide, ABA and Zinc PCA;Placebos
33 A Multi-centre, Single-blind, Parallel Group, Clinical Evaluation of the Efficacy and Safety of Clindamycin 1% / Benzoyl Peroxide 3% and Azelaic Acid 20% in the Topical Treatment of Mild to Moderate Acne Vulgaris Completed NCT02058628 Phase 4 Clindamycin + BPO;Azelaic acid
34 Efficacy and Safety of Aczone 7.5% Gel in the Treatment of Truncal Acne Vulgaris Completed NCT02944461 Phase 4 Dapsone 7.5 % gel
35 Single-blind, Multicenter, Parallel, Comparative, Randomized, Phase 4 Clinical Trial for the Evaluation of the Quality of Life, Efficacy and Tolerance of Duac® Gel Against Differin® Gel in the Topical Treatment of Mild to Moderate Acne Vulgaris. Completed NCT00807014 Phase 4 Duac Gel;Differin gel
36 An Open, Non-comparative Study of the Efficacy and Safety of Treatment of Acne Scars With Restylane Vital Lidocaine Completed NCT01807455 Phase 4
37 Effect of Patient Education on Treatment Adherence and Satisfaction Among Acne Patients Receiving Once-daily Epiduo Gel Treatment in Primary Care Clinics Completed NCT02307266 Phase 4
38 Efficacy and Safety of Adapalene 0.3%/Benzoyl Peroxide 2.5% Gel Plus Doxycycline in Severe Inflammatory Acne (Non-Nodulocystic) Subjects Completed NCT02899000 Phase 4 Adapalene 0.3% / benzoyl peroxide 2.5% emulsion gel;Oral doxycycline hyclate
39 Benzaknen® 5% Gel in Combination With Dermotivin® Soft Liquid Soap and Non-comedogenic Cetaphil® Dermacontrol Moisturizer SPF30 in the Treatment of Mild-to-moderate Acne Vulgaris Completed NCT02589405 Phase 4 Benzoyl Peroxide
40 A Study Comparing Aczone® Plus Differin® Versus Duac® Plus Differin® in Patients With Severe Facial Acne Completed NCT01231334 Phase 4 Dapsone plus Adapalene;Clindamycin/benzoyl peroxide plus Adapalene
41 Split-face Tolerability Comparison Between Epiduo® (Adapalene and Benzoyl Peroxide) Gel 0.1%/2.5% Versus Retin-A Micro® (Tretinoin Gel) Microsphere, 0.1% in Subjects With Acne Vulgaris Completed NCT01522456 Phase 4 Epiduo Gel;Retin-A Micro Microsphere 0.1%
42 The Use of Onexton in Moderate Acne Vulgaris for Patients With Skin of Color Completed NCT03402893 Phase 4 ONEXTON Topical Gel
43 A Comparison of Differin® Gel, 0.1% vs. Tazorac® Cream, 0.1% vs. Differin® Gel, 0.1% 6-Week Treatment Switched to Tazorac® Cream, 0.1% 6-Week Treatment in Patients With Acne Vulgaris Completed NCT00469755 Phase 4 Adapalene Gel, 0.1%;Tazarotene Cream, 0.1%;Adapalene Gel, 0.1% + Tazarotene Cream, 0.1%
44 Use of Aczone 5% Gel as Maintenance Treatment of Acne Vulgaris Following Completion of Oral Doxycycline and Aczone 5% Gel Treatment Completed NCT01885910 Phase 4 Doxycycline 100mg;Aczone 5% gel
45 Clinical Evaluation of Efficacy at 2 Weeks of Duac® Fixed Dose Combination Gel in Treatment of Facial Acne Vulgaris in Japanese Subjects Completed NCT02557399 Phase 4 Duac® fixed dose combination gel;ADA 0.1% gel;CLDM 1% gel
46 Epiduo® (Adapalene and Benzoyl Peroxide) Gel 0.1%/2.5% Pump, Cetaphil® DermaControl™ Moisturizer SPF 30, and Cetaphil® DermaControl™ Foam Wash Regimen in Student Athletes With Mild to Moderate Acne Vulgaris Completed NCT02249104 Phase 4 Adapalene/benzoyl peroxide gel, 0.1%/2.5%
47 A Single-blind, Randomized, Comparative Pilot Study Evaluating the Tolerability of Two Topical Combination Therapies in the Treatment of Acne Vulgaris Completed NCT00887484 Phase 4 BENZOYL PEROXIDE/ CLINDAMYCIN;BENZOYL PEROXIDE/ ADAPALENE
48 De Novo Lipogenesis of Sebaceous Glands in Acne Completed NCT02620813 Phase 4 Tretinoin;Isotretinoin
49 Effect of Adapalene 0.3% - Benzoyl Peroxide 2.5% Gel Versus Vehicle Gel on the Risk of Formation of Atrophic Acne Scars in Moderate to Severe Acne Subjects Completed NCT02735421 Phase 4 Adapalene 0.3% / BPO 2.5% gel;Vehicle gel
50 Comparative Study of the Effect on Acne With Norgestimate Containing Triphasic Oral Contraceptive and Biphasic Preparation Containing Desogestrel Completed NCT01466673 Phase 4 Ethinyl estradiol/Norgestimate (EE/NGM);Ethinyl estradiol/Desogestrel (EE/DSG)

Search NIH Clinical Center for Neurofibromatosis, Type Ii

Inferred drug relations via UMLS 71 / NDF-RT 50 :


adapalene
azelaic acid
Benzoyl Peroxide
CLINDAMYCIN PHOSPHATE PWDR
Colloid sulfur
Desogestrel
ERYTHROMYCIN PWDR
Hexachlorophene
Isotretinoin
MECLOCYLINE SULFOSALICYLATE
Norethindrone
norethindrone acetate
resorcinol
RESORCINOL PWDR
Salicylic Acid
SALICYLIC ACID PWDR
Sulfur
SULFUR PWDR
SULFUR,COLLOIDAL
tazarotene
Tretinoin
TRETINOIN PWDR

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 10805306 23211390

Cochrane evidence based reviews: neurofibromatosis 2

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 29 NF2
2 Acne 29
Sources

Anatomical Context for Neurofibromatosis, Type Ii

About this section

MalaCards organs/tissues related to Neurofibromatosis, Type Ii:

40
Skin, Ovary, Brain, Testes, Eye, Lung, Bone
Sources

Publications for Neurofibromatosis, Type Ii

About this section

Articles related to Neurofibromatosis, Type Ii:

(show top 50) (show all 15162)
# Title Authors PMID Year
1
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. 56 6
8379998 1993
2
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. 56 24
17307835 2007
3
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. 56 24
15994874 2005
4
Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. 24 56
15190457 2004
5
Predictors of the risk of mortality in neurofibromatosis 2. 56 24
12235555 2002
6
Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas. 56 24
12011146 2002
7
Paediatric presentation of type 2 neurofibromatosis. 56 24
10569966 1999
8
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. 56 24
9643284 1998
9
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. 56 24
8751853 1996
10
Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. 56 24
7747758 1994
11
A clinical study of type 2 neurofibromatosis. 56 24
1484939 1992
12
Neurofibromatosis type 2. 56 54
19476995 2009
13
Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. 56 54
10771486 2000
14
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. 56 54
8755919 1996
15
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 54 6
8566958 1996
16
Sarecycline hydrochloride for the treatment of acne vulgaris. 42 61
31720559 2019
17
An Advanced, Physician-Strength Retinol Peel Improves Signs of Aging and Acne Across a Range of Skin Types Including Melasma and Skin of Color 61 42
31524348 2019
18
Anti-Inflammatory Dose Doxycycline Plus Adapalene 0.3% and Benzoyl Peroxide 2.5% Gel for Severe Acne 42 61
31524349 2019
19
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
20
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
21
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
22
Empirical development of improved diagnostic criteria for neurofibromatosis 2. 56
21451418 2011
23
An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2). 56
19880713 2009
24
Ocular pathologic findings of neurofibromatosis type 2. 56
17353411 2007
25
Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2. 56
15235024 2004
26
Genotype-phenotype correlations for cataracts in neurofibromatosis 2. 56
14569124 2003
27
Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2). 56
12960214 2003
28
Evaluation of clinical diagnostic criteria for neurofibromatosis 2. 56
12473765 2002
29
Paxillin binds schwannomin and regulates its density-dependent localization and effect on cell morphology. 6
12118253 2002
30
Neurofibromatosis 2 and malignant mesothelioma. 56
12136076 2002
31
Maternal gene effect in neurofibromatosis 2: fact or artefact? 56
11732488 2001
32
Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2. 56
11425952 2001
33
Monocular elevator paresis in neurofibromatosis type 2. 56
11342693 2001
34
Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. 56
9863591 1998
35
Long-term outcomes after radiosurgery for acoustic neuromas. 56
9811917 1998
36
Treatment of acoustic neuromas. 56
9811925 1998
37
Neurofibromatosis 2 6
20301380 1998
38
Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. 24 54
9718334 1998
39
Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2. 56
9225971 1997
40
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. 56
9207339 1997
41
A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. 6
8757035 1996
42
Asbestos and mesothelioma: genetic lessons from a tragedy. 56
7479890 1995
43
Ocular abnormalities in neurofibromatosis 2. 56
7485365 1995
44
Diagnostic issues in a family with late onset type 2 neurofibromatosis. 6
7666400 1995
45
Mutational analysis of patients with neurofibromatosis 2. 6
7913580 1994
46
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 6
8081368 1994
47
National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma, December 11-13, 1991. The Consensus Development Panel. 56
8304846 1994
48
Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers. 56
8414026 1993
49
A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus. 56
8102569 1993
50
Lens opacities in neurofibromatosis 2: further significant correlations. 56
8318482 1993
Sources

Variations for Neurofibromatosis, Type Ii

About this section

ClinVar genetic disease variations for Neurofibromatosis, Type Ii:

6 (show top 50) (show all 406) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF2 NM_016418.5(NF2):c.1627A>T (p.Lys543Ter)SNV Pathogenic 237621 rs878853925 22:30077480-30077480 22:29681491-29681491
2 NF2 NC_000022.10:g.(?_30069248)_(30069485_?)deldeletion Pathogenic 652949 22:30069248-30069485 22:29673259-29673496
3 NF2 NC_000022.10:g.(?_29999978)_(30077600_?)deldeletion Pathogenic 640993 22:29999978-30077600 22:29603989-29681611
4 NF2 NM_016418.5(NF2):c.517-92_568deldeletion Pathogenic 654267 22:30051485-30051628 22:29655496-29655639
5 NF2 NC_000022.10:g.(?_30032730)_(30035211_?)deldeletion Pathogenic 665033 22:30032730-30035211 22:29636741-29639222
6 NF2 NM_016418.5(NF2):c.1646T>A (p.Leu549Ter)SNV Pathogenic 659824 22:30077499-30077499 22:29681510-29681510
7 NF2 NM_016418.5(NF2):c.1332_1333AG[1] (p.Glu445fs)short repeat Pathogenic 664255 22:30069467-30069470 22:29673478-29673479
8 NF2 NM_016418.5(NF2):c.1003G>T (p.Glu335Ter)SNV Pathogenic 640644 22:30067818-30067818 22:29671829-29671829
9 NF2 NM_016418.5(NF2):c.658A>T (p.Asn220Tyr)SNV Pathogenic 643102 22:30054236-30054236 22:29658247-29658247
10 NF2 NM_016418.5(NF2):c.69dup (p.Val24fs)duplication Pathogenic 644553 22:30000056-30000056 22:29604067-29604067
11 NF2 NM_016418.5(NF2):c.516+1G>ASNV Pathogenic 646675 22:30050715-30050715 22:29654726-29654726
12 NF2 NC_000022.10:g.(?_29999978)_(30000111_?)deldeletion Pathogenic 661747 22:29999978-30000111 22:29603989-29604122
13 NF2 NC_000022.10:g.(?_30038185)_(30038280_?)deldeletion Pathogenic 583855 22:30038185-30038280 22:29642196-29642291
14 NF2 NM_016418.5(NF2):c.999+1G>ASNV Pathogenic 583001 rs1569302393 22:30064436-30064436 22:29668447-29668447
15 NF2 NC_000022.10:g.(?_30032730)_(30057338_?)deldeletion Pathogenic 583523 22:30032730-30057338 22:29636741-29661349
16 NF2 NM_016418.5(NF2):c.1550T>C (p.Leu517Pro)SNV Pathogenic 547709 rs1556002568 22:30074288-30074288 22:29678299-29678299
17 NF2 NM_016418.5(NF2):c.1447-2deldeletion Pathogenic 547707 rs1556002457 22:30074183-30074183 22:29678194-29678194
18 NF2 NM_016418.5(NF2):c.563_564del (p.Ile188fs)deletion Pathogenic 527703 rs1555993313 22:30051629-30051630 22:29655640-29655641
19 NF2 NM_016418.5(NF2):c.970del (p.Gln324fs)deletion Pathogenic 527702 rs1555998851 22:30064406-30064406 22:29668417-29668417
20 NF2 NM_016418.5(NF2):c.798C>G (p.Tyr266Ter)SNV Pathogenic 527692 rs917257652 22:30057316-30057316 22:29661327-29661327
21 NF2 NC_000022.10:g.(?_30064316)_(30074318_?)deldeletion Pathogenic 527725 22:30064316-30074318 22:29668327-29678329
22 NF2 NM_016418.5(NF2):c.180G>A (p.Trp60Ter)SNV Pathogenic 492893 rs780872661 22:30032805-30032805 22:29636816-29636816
23 NF2 NM_016418.5(NF2):c.43A>T (p.Lys15Ter)SNV Pathogenic 492891 rs1555978356 22:30000030-30000030 22:29604041-29604041
24 NF2 NM_016418.5(NF2):c.1737+1G>TSNV Pathogenic 457907 rs1556003799 22:30077591-30077591 22:29681602-29681602
25 NF2 NM_016418.5(NF2):c.273del (p.Val92fs)deletion Pathogenic 457911 rs1555987647 22:30035111-30035111 22:29639122-29639122
26 NF2 NM_016418.5(NF2):c.586C>T (p.Arg196Ter)SNV Pathogenic 457921 rs1555993336 22:30051652-30051652 22:29655663-29655663
27 NF2 NM_016418.5(NF2):c.656_657insA (p.Asn220fs)in