SINO
MCID: SPS204
MIFTS: 45

Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity (SINO)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

MalaCards integrated aliases for Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

Name: Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 56 73 29 6
Sino Syndrome 58 39
Sino 56 73
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
three unrelated patients have been reported (last curated january, 2017)


HPO:

31
spastic paraplegia, intellectual disability, nystagmus, and obesity:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

OMIM : 56 Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016). (617296)

MalaCards based summary : Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity, also known as sino syndrome, is related to sick sinus syndrome and immunodeficiency 60. An important gene associated with Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity is KIDINS220 (Kinase D Interacting Substrate 220). The drugs Triamcinolone and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and eye, and related phenotypes are intellectual disability and prominent forehead

UniProtKB/Swiss-Prot : 73 Spastic paraplegia, intellectual disability, nystagmus, and obesity: An autosomal dominant syndrome characterized by rapid growth in infancy, obesity, global developmental delay, intellectual disability, spastic paraplegia, ocular defects, and dysmorphic facial features.

Related Diseases for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Diseases related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 246)
# Related Disease Score Top Affiliating Genes
1 sick sinus syndrome 11.6
2 immunodeficiency 60 11.2
3 familial sick sinus syndrome 11.2
4 aspergillosis 10.6
5 rhinitis 10.4
6 alacrima, achalasia, and mental retardation syndrome 10.3
7 paraplegia 10.3
8 pathologic nystagmus 10.3
9 exophthalmos 10.3
10 squamous cell papilloma 10.2
11 papilloma 10.2
12 mucormycosis 10.2
13 inverted papilloma 10.2
14 pertussis 10.2
15 kearns-sayre syndrome 10.1
16 allergic rhinitis 10.1
17 invasive aspergillosis 10.1
18 hypereosinophilic syndrome 10.1
19 thrombophilia due to thrombin defect 10.1
20 lymphoma 10.1
21 headache 10.1
22 syncope 10.1
23 melanoma, cutaneous malignant 10 10.1
24 atrioventricular block 10.1
25 sinoatrial node disease 10.1
26 thrombosis 10.1
27 melanoma 10.1
28 maxillary sinusitis 10.1
29 adenocarcinoma 10.1
30 acquired immunodeficiency syndrome 10.1
31 bronchiectasis 10.1
32 rare tumor 10.1
33 asthma 10.0
34 ventricular fibrillation, paroxysmal familial, 1 10.0
35 body mass index quantitative trait locus 1 10.0
36 osteoblastoma 10.0
37 rhabdomyosarcoma 10.0
38 ebola hemorrhagic fever 10.0
39 cerebrovascular disease 10.0
40 cataract 10.0
41 orbital disease 10.0
42 hypertension, essential 9.9
43 migraine with or without aura 1 9.9
44 cystic fibrosis 9.9
45 immune deficiency disease 9.9
46 myeloma, multiple 9.9
47 stroke, ischemic 9.9
48 yemenite deaf-blind hypopigmentation syndrome 9.9
49 nasopharyngeal carcinoma 9.9
50 resting heart rate, variation in 9.9

Graphical network of the top 20 diseases related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:



Diseases related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity

Symptoms & Phenotypes for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Human phenotypes related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
3 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
4 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
5 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
6 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
7 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
8 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
9 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
10 progressive spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0007020
11 abnormal cns myelination 58 31 frequent (33%) Frequent (79-30%) HP:0011400
12 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
13 esophoria 58 31 frequent (33%) Frequent (79-30%) HP:0025312
14 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
15 partial agenesis of the corpus callosum 31 occasional (7.5%) HP:0001338
16 global developmental delay 31 HP:0001263
17 delayed speech and language development 31 HP:0000750
18 full cheeks 31 HP:0000293
19 hyperreflexia 31 HP:0001347
20 reduced visual acuity 31 HP:0007663
21 spastic paraplegia 31 HP:0001258
22 astigmatism 31 HP:0000483
23 cerebral atrophy 31 HP:0002059
24 muscular hypotonia of the trunk 31 HP:0008936
25 esotropia 31 HP:0000565
26 limb hypertonia 31 HP:0002509
27 delayed myelination 31 HP:0012448
28 dilation of lateral ventricles 31 HP:0006956

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
hyperreflexia
spastic paraplegia
cerebral atrophy
delayed myelination
more
Head And Neck Face:
full cheeks

Muscle Soft Tissue:
limb hypertonia
axial hypotonia

Growth Weight:
obesity, postnatal

Head And Neck Head:
prominent forehead
enlarged head circumference
brachyplagiocephaly

Head And Neck Eyes:
nystagmus
astigmatism
hypermetropia
esotropia
deep-set eyes
more
Growth Height:
increased height compared to age-matched controls, postnatal

Clinical features from OMIM:

617296

Drugs & Therapeutics for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Drugs for Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2 Immunologic Factors Phase 4
3 Immunosuppressive Agents Phase 4
4 Pharmaceutical Solutions Phase 4
5 Triamcinolone diacetate Phase 4
6 triamcinolone acetonide Phase 4
7 Triamcinolone hexacetonide Phase 4
8 Polyvinyl alcohol formaldehyde foam Phase 4
9
mometasone furoate Approved, Investigational, Vet_approved Phase 3 83919-23-7
10
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
11
Licorice Approved Phase 2, Phase 3
12
Tobramycin Approved, Investigational Phase 3 32986-56-4 36294 5496
13 Anti-Allergic Agents Phase 3
14 Antineoplastic Agents, Hormonal Phase 3
15 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
16 Vaccines Phase 3
17 Fat Emulsions, Intravenous Phase 3
18 Soy Bean Phase 3
19 Soybean oil, phospholipid emulsion Phase 3
20 Omega 3 Fatty Acid Phase 3
21 Parenteral Nutrition Solutions Phase 3
22 Anti-Bacterial Agents Phase 3
23 Anti-Infective Agents Phase 3
24 Antibiotics, Antitubercular Phase 3
25
Colistin Approved Phase 2 1264-72-8, 1066-17-7 5311054
26
Furosemide Approved, Vet_approved Phase 2 54-31-9 3440
27
Levofloxacin Approved, Investigational Phase 1, Phase 2 100986-85-4 149096
28
Mupirocin Approved, Investigational, Vet_approved Phase 1, Phase 2 12650-69-0 446596
29
Ofloxacin Approved Phase 1, Phase 2 82419-36-1 4583
30
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
31 Sodium Potassium Chloride Symporter Inhibitors Phase 2
32 diuretics Phase 2
33 Gentamicins Phase 1, Phase 2
34 Dermatologic Agents Phase 1, Phase 2
35 Interleukin-12 Phase 1, Phase 2
36
Metformin Approved Phase 1 657-24-9 14219 4091
37
Ciclesonide Approved, Investigational Phase 1 141845-82-1, 126544-47-6 444033
38
Cetirizine Approved Phase 1 83881-51-0 2678
39
Xylometazoline Approved, Investigational Phase 1 526-36-3 5709
40
Tyrosine Approved, Investigational, Nutraceutical Phase 1 60-18-4 6057
41 Hypoglycemic Agents Phase 1
42 Histamine H1 Antagonists Phase 1
43 Histamine Antagonists Phase 1
44
Omalizumab Approved, Investigational 242138-07-4
45
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
46
Phenylephrine Approved 59-42-7 6041
47
Oxymetazoline Approved, Investigational 1491-59-4 4636
48
Tetracaine Approved, Vet_approved 94-24-6 5411
49
Histamine Approved, Investigational 51-45-6 774
50
Levocetirizine Approved 130018-77-8 1549000

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 Use of Probiotics as Adjunctive Treatment for Chronic Rhinosinusitis Completed NCT00396162 Phase 4 probiotic containing L.rhamnosus R0011 strain
2 Medicated Punctured-Glove-Finger Spacer Study Completed NCT01420471 Phase 4 Triamcinolone
3 A Multi-center, Randomized, Double-blind, Placebo-controlled Study on Efficacy and Safety of Mometasone Furoate Nasal Spray (MFNS) in the Post Surgical Treatment of Nasal Polyposis Completed NCT00731185 Phase 3 Mometasone Furoate Nasal Spray;Placebo
4 The Effect of Preoperative Oral Prednisone on the Operative Field During Nasal Polypectomy. Completed NCT00440219 Phase 3 Oral Prednisone;Placebo comparator
5 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
6 The Impact of Omega-3 Fat Emulsion on Clinical Outcome of Post-Operative Cancer Patients: A Randomized, Double Blind, Controlled, Multi-Center Clinical Trial. Completed NCT00292279 Phase 3 Omega-3 fish oil emulsion (Omegaven );long-chain triglyceride
7 A Multicentre, Randomised, Double-blind, Placebo-controlled, Parallel Group Trial to Assess Efficacy and Safety of Two Dosages of a Herbal Medicinal Product (Dry Extract BNO 1016) in Patients With Chronic Rhinosinusitis Completed NCT01706484 Phase 3 BNO 1016
8 Chia Yi Chang Gung Memorial Hospital Recruiting NCT04046393 Phase 2, Phase 3
9 Efficacy of Antibiotic (Tobramycin) Delivered by Nebulized Sonic Aerosol for Chronic Rhinosinusitis Treatment of Cystic Fibrosis Patients: A Multicenter Double-blind Randomized Controlled Trial Recruiting NCT02888730 Phase 3 Tobramycin nebulized nasally;Physiologic serum nebulized nasally
10 High-tech Acupuncture for Treatment of Chronic Fatigue Syndrome - A Sino-Austrian Cooperation Randomized Controlled Trial(RCT) on Heart Rate Variability Unknown status NCT02924831 Phase 2
11 Sino-nasal Inhalation of Colistin Via the Pari Sinus Nebulizer in Patients With Cystic Fibrosis and Colonization of the Upper Airways With Pseudomonas Aeruginosa Completed NCT01035853 Phase 2 Colistin
12 Manuka Honey Irrigation After Endoscopic Sinus Surgery Completed NCT01350193 Phase 1, Phase 2
13 Phase 2 Study Examining the Effects of Topical Intranasal Silver Colloid in Patients With Recalcitrant Chronic Rhinosinusitis Completed NCT02403479 Phase 1, Phase 2 Silver Colloid
14 Treatment of Post-Operative Sinonasal Polyposis With Topical Furosemide Recruiting NCT03362515 Phase 2 Furosemide;Placebo
15 Topical Antibiotics in Chronic Rhinosinusitis Recruiting NCT03673956 Phase 1, Phase 2 Topical Antibiotic Nasal Saline Irrigation
16 A Phase II, Randomized, Blinded, Sham Procedure-Controlled, Parallel-Group Trial to Evaluate the Efficacy, Safety and Tolerability of LYR-210 in Adult Subjects With Chronic Sinusitis (LANTERN Study) Active, not recruiting NCT04041609 Phase 2 LYR-210
17 An Open-Label Phase I/II Pilot Study to Assess the Safety/Tolerability and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Active, not recruiting NCT02199496 Phase 1, Phase 2
18 If Channel Blockade With Ivabradine in Patients With Diastolic Heart Failure Withdrawn NCT00757055 Phase 2 Ivabradine;Placebo
19 A Randomized, Open-label, 2-Way-Crossover Study Assessing the Bioequivalence Between Single Doses of 500 mg Glucophage Immediate Release (GIR) Tablets (Sino-American Shanghai Squibb Pharmaceuticals Ltd./ Manufactured in China) and 500 mg GIR Tablets (Merck Santé s.a.s. in Semoy/ Manufactured in France) Under Fed and Fasted State in Two Groups of Healthy Subjects Completed NCT03393208 Phase 1 Test GIR;Reference GIR
20 Open-labeled Pilot Study of Intralymphatic Immunotherapy (ILIT) for House Dust Mite, Cat, and Dog Allergen in Allergic Rhinitis Patients Completed NCT02301884 Phase 1
21 Effects of Continuous Positive Airway Pressure Therapy on Myocardial Energetics and Sympathetic Nerve Function in Patients With Heart Failure and Obstructive Sleep Apnea. Completed NCT00756366 Phase 1
22 The Efficacy and Adverse Effect of Intralymphatic Immunotherapy With Tyrosine S®, Allergen Extract for Immunotherapy, in Patients With Allergic Rhinitis Induced by House Dust Mite, Dog, and Cat Allergen Completed NCT02665754 Phase 1 Rescue medication for allergic rhinitis
23 A Pilot Study of Safety and Efficacy of the Oral IL-12/23 Inhibitor, STA-5326 Mesylate, for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Completed NCT00263237 Phase 1 STA-5326
24 A Double-blinded Placebo-controlled Randomized Clinical Trial Evaluating the Efficacy and Adverse Effect of Intralymphatic Immunotherapy (ILIT) for House Dust Mite, Cat, and Dog Allergen in Allergic Rhinitis Patients Terminated NCT02269566 Phase 1 HollisterStier;Normal saline
25 Traditional Septoplasty Vs Endoscopic Septoplasty for Treating Deviated Nasal Septum: A Prospective, Randomized Controlled Trial Unknown status NCT02653950
26 Study of Ion Transport From Nasal Epithelial Cells Collected by Brushing (CCBN) in the Diagnosis of Atypical Forms of Cystic Fibrosis Unknown status NCT02433132
27 Nocturnal Temperature Controlled Laminar Airflow Device, Airsonett, for Treating Severe Allergic Asthma After Withdrawal of Omalizumab therapyT Unknown status NCT03480815
28 Vascular Abnormalities in Idiopathic Parkinson's Disease Unknown status NCT02045420
29 Normal Echocardiographic Parameters of Indian Population and Comparison With the ASE Reference Range Unknown status NCT03308383
30 A Study to Evaluate the Contraceptive Effectiveness, Safety and Acceptability of Sino-implant II Completed NCT01594632 Jadelle;Sino-implant (II)
31 A Study to Evaluate the Contraceptive Effectiveness During the Third, Fourth and Fifth Year of Sino-implant (II) Use and the Pharmacokinetics Over Five Years of Use in Chinese Women Completed NCT01936454
32 A Randomized Controlled Trial on the Effect of Sino-implant (II) Use on Condom Use Among Women in Kingston, Jamaica Completed NCT01684358
33 Sino-nasal Inhalation of Sodium Chloride 6,0% in Patients With Cystic Fibrosis and Chronic Rhinosinusitis. A Multicenter, Randomized, Double-blind, Placebo-controlled, Prospective Clinical Trial Completed NCT01086839 sodium chloride 6%;sodium chloride 0,9%
34 PCR Analysis of Nasal Polyps for Fungal DNA Completed NCT00739921
35 The Sinonasal Outcome Test - 22, Validated for Danish Patients Completed NCT01254916
36 A Prospective Observational Study of the Clinical Performance of Zarin in Madagascar Completed NCT01200576
37 Response Shift in Sinus Surgery Outcomes Completed NCT01391910
38 A Single-center, Non-randomized, Open, Single-arm Confirmatory Clinical Study to Evaluate the Safety and Efficacy of Platelet Rich Plasma Injection for Patients With Atrophic Rhinitis Completed NCT03112330
39 Danish Title: Afprøvning af indføringsrør Til Forureningsfri Podning af næsens Bihuler (Den Forureningsfri Podepind) Completed NCT02924103
40 Paced And Sensed Electrical Delay in CRT Therapy (PASED CRT) Completed NCT02803775
41 Circulating Biomarker(s) of Muscarinic Receptor Overexpression and Vagal Disorders. Completed NCT01358461
42 Cardiac Autonomic Changes After Endoscopic Thoracic Sympathectomy For Essential Palmar Hyperhidrosis: Results Of A Prospective, Randomized Study Completed NCT02733497
43 Effect of Health Promotion on Allergic Rhinitis by Infrared-C Ray Irradiation Completed NCT03673384 Xyzal Oral Product;Fluticasone Furoate
44 Safety and Efficacy of Lactococcus Lactis Probiotic Bacteria for the Treatment of Chronic Rhinosinusitis Completed NCT04048174
45 The Use of Home-monitoring and mHealth Systems to Predict Asthma Control and the Occurrence of Asthma Exacerbations Completed NCT02774772
46 Prediction of Cognitive Decline by Neuroimaging Techniques and the Application in Diagnosis and Treatment of Preclinical AD (Sino Longitudinal Study on Cognitive Decline, SILCODE) Recruiting NCT03370744
47 Feasibility of Transnasal ECHO for Identification of Parapharyngeal Internal Carotid Artery Recruiting NCT03838640
48 Assessment of Venous Drainage in Idiopathic Intracranial Hypertension Recruiting NCT04115553
49 Accuracy of Detecting Residual Disease After Neoadjuvant Chemoradiotherapy for Esophageal Squamous Cell Carcinoma: the preSINO Trial (Pre-Surgery If Needed for Oesophageal Cancer) Recruiting NCT03937362
50 Effects of Osteopathic Manipulative Treatment in Chronic Non-allergic Rhinosinusitis: a Randomised Placebo-controlled Trial Recruiting NCT04420052

Search NIH Clinical Center for Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity

Genetic Tests for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Genetic tests related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

# Genetic test Affiliating Genes
1 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 29 KIDINS220

Anatomical Context for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

MalaCards organs/tissues related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

40
Heart, Testes, Eye, Lung, Pituitary, Liver, Brain

Publications for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Articles related to Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

(show top 50) (show all 3131)
# Title Authors PMID Year
1
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. 56 6 61
27005418 2016
2
Novel Kidins220/ARMS Splice Isoforms: Potential Specific Regulators of Neuronal and Cardiovascular Development. 56
26083449 2015
3
Resolving complicated relationships of the Panax bipinnatifidus complex in southwestern China by RAD-seq data. 61
32438045 2020
4
Cost-effectiveness of Endoscopic Polypectomy in Clinic compared to Endoscopic Sinus Surgery: A modelling study. 61
32227591 2020
5
Topical Steroids in Rhinosinusitis and Intraoperative Bleeding: More Harm Than Good? 61
31119988 2020
6
Eustachian Tube Quality of Life and Severity of Disease in Patients With Chronic Rhinosinusitis. 61
32188265 2020
7
Pilot Investigation: Prospective Needs Assessment of Knowledge, Attitude, and Insight About Mental Health Treatment Options in Patients With Chronic Rhinosinusitis. 61
32188266 2020
8
Patient-specific three-dimensional aortic arch modeling for automatic measurements: clinical validation in aortic coarctation. 61
32332378 2020
9
Middle ear disease in CF? It's not just about the sinuses anymore! 61
32259649 2020
10
Revisiting the genetic background and phylogenetic structure of five Sino-Tibetan-speaking populations: insights from autosomal InDels. 61
32279092 2020
11
Dendrimer mediated targeted delivery of sinomenine for the treatment of acute neuroinflammation in traumatic brain injury. 61
32339548 2020
12
Symptom Control of Patients With Chronic Rhinosinusitis With Nasal Polyps Under Maintenance Therapy With Daily Acetylsalicylic Acid. 61
32208749 2020
13
Assessing the surgical outcome of the "chopsticks" technique in endoscopic transsphenoidal adenoma surgery. 61
32480377 2020
14
Risk Factors for Mortality in 244 Older Adults With COVID-19 in Wuhan, China: A Retrospective Study. 61
32383809 2020
15
Ethmoid-to-maxillary opacification ratio: a predictor of postoperative olfaction and outcomes in nasal polyposis? 61
32558260 2020
16
Surgical outcomes in aspirin-exacerbated respiratory disease without aspirin desensitization. 61
32558318 2020
17
Gelomyrtol for acute or chronic sinusitis: A protocol for systematic review and meta-analysis. 61
32502036 2020
18
Efficacy and safety of omalizumab in nasal polyposis: two randomized phase III trials. 61
32524991 2020
19
Prevalence of Taste and Smell Dysfunction in Coronavirus Disease 2019. 61
32556070 2020
20
Invest in health and uphold rights to "build back better" after COVID-19. 61
32543338 2020
21
The Role of Home Fungal Exposure in Allergic Fungal Rhinosinusitis. 61
32539434 2020
22
Budesonide vs Saline Nasal Irrigation in Allergic Rhinitis: A Randomized Placebo-Controlled Trial. 61
32393099 2020
23
[Risks factors for death among COVID-19 patients combined with hypertension, coronary heart disease or diabetes]. 61
32541972 2020
24
Sino-orbital infection caused by Schizophyllum commune - rare presentation of a basidiomycetous fungus. 61
32037101 2020
25
Prior smoking and nasoseptal flap usage adversely impact quality of life and healing after endoscopic pituitary surgery. 61
32480369 2020
26
Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East Asians. 61
32163678 2020
27
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report. 61
32357925 2020
28
Paternal genetic history of the Yong population in northern Thailand revealed by Y-chromosomal haplotypes and haplogroups. 61
31932897 2020
29
Quality-of-life and olfaction changes observed with short-term medical management of chronic rhinosinusitis. 61
32017433 2020
30
Patient characteristics of suspected mast-cell activation syndrome with sinonasal obstruction: a single institution experience. 61
32407593 2020
31
Comparison of olfactory and taste functions between eosinophilic and non-eosinophilic chronic rhinosinusitis. 61
32386824 2020
32
Voice-Related Quality of Life in Patients with Chronic Rhinosinusitis. 61
32456446 2020
33
Randomized clinical trial to evaluate mometasone lavage vs spray for patients with chronic rhinosinusitis without nasal polyps who have not undergone sinus surgery. 61
32470217 2020
34
Cognitive Reserve, Brain Reserve, APOEɛ4, and Cognition in Individuals with Subjective Cognitive Decline in the SILCODE Study. 61
32444543 2020
35
Severity of Rhinosinusitis: Comparison Between Visual Analog Scale Given by Patients and Otorhinolaryngologists. 61
32403940 2020
36
Chronic Odontogenic Rhinosinusitis: Optimization of Surgical Treatment Indications. 61
32475127 2020
37
Sino-nasal outcome test-22: Cross-cultural adaptation and validation in Russian speaking patients. 61
31967705 2020
38
Dynamic network connectivity predicts subjective cognitive decline: the Sino-Longitudinal Cognitive impairment and dementia study. 61
32361946 2020
39
MR and CT imaging features of sino-nasal organized hematomas. 61
32462337 2020
40
Correlation of intensity-modulated radiation therapy at a specific radiation dose with the prognosis of nasal mucous damage after radiotherapy. 61
32030481 2020
41
Clinical efficacy and safety of somatostatin in the treatment of early postoperative inflammatory small bowel obstruction: A protocol for systematic review and meta analysis. 61
32443374 2020
42
DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype. 61
32366930 2020
43
Vitamin D Supplementation is Beneficial for Children with Autism Spectrum Disorder: A Meta-analysis. 61
32329301 2020
44
Predictors of rhinorrhea response after posterior nasal nerve cryoablation for chronic rhinitis. 61
32445248 2020
45
An ethnic interpretation of mental distress from the perspective of Tongan men and community leaders. 61
32410302 2020
46
Morbidities Associated with the Endoscopic Transnasal Transpterygoid Approach: Focusing on Postoperative Sequelae. 61
31863890 2020
47
Efficacy of Budesonide Nasal Spray on Neutrophilic Chronic Rhinosinusitis with Nasal Polyps: A Combined Clinical and Experimental Study. 61
32369807 2020
48
CT-scan theoretical analysis for aortic cross-clamp and opening after transcatheter aortic valve implantation. 61
32364502 2020
49
A novel device combining acoustic vibration with oscillating expiratory pressure for the treatment of nasal congestion. 61
32104962 2020
50
The Impact of Laryngopharyngeal Reflux on Patient-reported Measures of Chronic Rhinosinusitis. 61
32390460 2020

Variations for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

ClinVar genetic disease variations for Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIDINS220 NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs)deletion Pathogenic 430805 rs1131692229 2:8871086-8871087 2:8730956-8730957
2 KIDINS220 NM_020738.4(KIDINS220):c.4050G>A (p.Trp1350Ter)SNV Pathogenic 374908 rs1057519300 2:8873577-8873577 2:8733447-8733447
3 KIDINS220 NM_020738.4(KIDINS220):c.4096C>T (p.Gln1366Ter)SNV Pathogenic 374909 rs1057519301 2:8872070-8872070 2:8731940-8731940
4 KIDINS220 NM_020738.4(KIDINS220):c.4520dup (p.Leu1507fs)duplication Pathogenic 374910 rs1057519302 2:8871645-8871646 2:8731515-8731516
5 KIDINS220 NM_020738.4(KIDINS220):c.4138C>T (p.Gln1380Ter)SNV Likely pathogenic 431718 rs1553305080 2:8872028-8872028 2:8731898-8731898
6 KIDINS220 NM_020738.4(KIDINS220):c.299G>A (p.Arg100His)SNV Uncertain significance 587468 rs368435770 2:8957755-8957755 2:8817625-8817625
7 KIDINS220 NM_020738.4(KIDINS220):c.974A>G (p.Asn325Ser)SNV not provided 441104 rs77973158 2:8938357-8938357 2:8798227-8798227

Expression for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Search GEO for disease gene expression data for Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity.

Pathways for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

GO Terms for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

Sources for Spastic Paraplegia, Intellectual Disability, Nystagmus, and...

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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