SINO
MCID: SPS204
MIFTS: 44

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 57 74 29 6
Sino Syndrome 59 40
Sino 57 74
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spastic paraplegia, intellectual disability, nystagmus, and obesity:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 617296
MeSH 44 D000015
Orphanet 59 ORPHA521390

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

OMIM : 57 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 sino-auricular heart block and sick sinus syndrome. An important gene associated with Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity is KIDINS220 (Kinase D Interacting Substrate 220). The drugs Triamcinolone and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and eye, and related phenotypes are obesity and nystagmus

UniProtKB/Swiss-Prot : 74 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 251)
# Related Disease Score Top Affiliating Genes
1 sino-auricular heart block 12.4
2 sick sinus syndrome 11.6
3 immunodeficiency 60 11.2
4 familial sick sinus syndrome 11.2
5 aspergillosis 10.6
6 rhinitis 10.4
7 alacrima, achalasia, and mental retardation syndrome 10.3
8 paraplegia 10.3
9 pathologic nystagmus 10.3
10 exophthalmos 10.3
11 mucormycosis 10.2
12 squamous cell papilloma 10.2
13 papilloma 10.2
14 pertussis 10.2
15 inverted papilloma 10.2
16 kearns-sayre syndrome 10.2
17 allergic rhinitis 10.2
18 invasive aspergillosis 10.2
19 hypereosinophilic syndrome 10.2
20 thrombophilia due to thrombin defect 10.1
21 headache 10.1
22 syncope 10.1
23 atrioventricular block 10.1
24 sinoatrial node disease 10.1
25 lymphoma 10.1
26 thrombosis 10.1
27 maxillary sinusitis 10.1
28 adenocarcinoma 10.1
29 acquired immunodeficiency syndrome 10.1
30 cerebrovascular disease 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 lymphocytic leukemia 10.0
38 rhabdomyosarcoma 10.0
39 ebola hemorrhagic fever 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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
2 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
5 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
6 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
7 plagiocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0001357
8 progressive spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0007020
9 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
10 delayed gross motor development 59 32 frequent (33%) Frequent (79-30%) HP:0002194
11 hypermetropia 59 32 frequent (33%) Frequent (79-30%) HP:0000540
12 abnormal cns myelination 59 32 frequent (33%) Frequent (79-30%) HP:0011400
13 esophoria 59 32 frequent (33%) Frequent (79-30%) HP:0025312
14 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
15 partial agenesis of the corpus callosum 32 occasional (7.5%) HP:0001338
16 hyperreflexia 32 HP:0001347
17 global developmental delay 32 HP:0001263
18 delayed speech and language development 32 HP:0000750
19 full cheeks 32 HP:0000293
20 reduced visual acuity 32 HP:0007663
21 spastic paraplegia 32 HP:0001258
22 astigmatism 32 HP:0000483
23 cerebral atrophy 32 HP:0002059
24 esotropia 32 HP:0000565
25 delayed myelination 32 HP:0012448
26 dilation of lateral ventricles 32 HP:0006956
27 muscular hypotonia of the trunk 32 HP:0008936
28 limb hypertonia 32 HP:0002509

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
astigmatism
esotropia
hypermetropia
deep-set eyes
more
Head And Neck Head:
prominent forehead
enlarged head circumference
brachyplagiocephaly

Muscle Soft Tissue:
limb hypertonia
axial hypotonia

Growth Weight:
obesity, postnatal

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

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

Interventional clinical trials:

(show top 50) (show all 57)
# 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 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
5 The Effect of Preoperative Oral Prednisone on the Operative Field During Nasal Polypectomy. Completed NCT00440219 Phase 3 Oral Prednisone;Placebo comparator
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 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
9 Chia Yi Chang Gung Memorial Hospital Not yet recruiting NCT04046393 Phase 2, Phase 3
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 Phase 2 Study Examining the Effects of Topical Intranasal Silver Colloid in Patients With Recalcitrant Chronic Rhinosinusitis Unknown status NCT02403479 Phase 1, Phase 2 Topical silver colloid
12 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
13 Manuka Honey Irrigation After Endoscopic Sinus Surgery Completed NCT01350193 Phase 1, Phase 2
14 Treatment of Post-Operative Sinonasal Polyposis With Topical Furosemide Recruiting NCT03362515 Phase 2 Furosemide;Placebo
15 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 Recruiting NCT04041609 Phase 2 LYR-210
16 Topical Antibiotics in Chronic Rhinosinusitis Recruiting NCT03673956 Phase 1, Phase 2 Topical Antibiotic Nasal Saline Irrigation
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 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
23 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 Recruiting NCT02665754 Phase 1 Rescue medication for allergic rhinitis
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 PCR Analysis of Nasal Polyps for Fungal DNA Unknown status NCT00739921
26 Traditional Septoplasty Vs Endoscopic Septoplasty for Treating Deviated Nasal Septum: A Prospective, Randomized Controlled Trial Unknown status NCT02653950
27 Vascular Abnormalities in Idiopathic Parkinson's Disease Unknown status NCT02045420
28 A Study to Evaluate the Contraceptive Effectiveness, Safety and Acceptability of Sino-implant II Completed NCT01594632 Jadelle;Sino-implant (II)
29 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
30 A Randomized Controlled Trial on the Effect of Sino-implant (II) Use on Condom Use Among Women in Kingston, Jamaica Completed NCT01684358
31 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%
32 A Prospective Observational Study of the Clinical Performance of Zarin in Madagascar Completed NCT01200576
33 The Sinonasal Outcome Test - 22, Validated for Danish Patients Completed NCT01254916
34 Response Shift in Sinus Surgery Outcomes Completed NCT01391910
35 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
36 Danish Title: Afprøvning af indføringsrør Til Forureningsfri Podning af næsens Bihuler (Den Forureningsfri Podepind) Completed NCT02924103
37 Cardiac Autonomic Changes After Endoscopic Thoracic Sympathectomy For Essential Palmar Hyperhidrosis: Results Of A Prospective, Randomized Study Completed NCT02733497
38 Circulating Biomarker(s) of Muscarinic Receptor Overexpression and Vagal Disorders. Completed NCT01358461
39 Effect of Health Promotion on Allergic Rhinitis by Infrared-C Ray Irradiation Completed NCT03673384 Xyzal Oral Product;Fluticasone Furoate
40 Safety and Efficacy of Lactococcus Lactis Probiotic Bacteria for the Treatment of Chronic Rhinosinusitis Completed NCT04048174
41 The Use of Home-monitoring and mHealth Systems to Predict Asthma Control and the Occurrence of Asthma Exacerbations Completed NCT02774772
42 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
43 Feasibility of Transnasal ECHO for Identification of Parapharyngeal Internal Carotid Artery Recruiting NCT03838640
44 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
45 Paced And Sensed Electrical Delay in CRT Therapy (PASED CRT) Recruiting NCT02803775
46 Study of Ion Transport From Nasal Epithelial Cells Collected by Brushing (CCBN) in the Diagnosis of Atypical Forms of Cystic Fibrosis Recruiting NCT02433132
47 Normal Echocardiographic Parameters of Indian Population and Comparison With the ASE Reference Range Recruiting NCT03308383
48 Pre-treatment Biomarker for Clinical Response to Neuronavigation Repetitive Transcranial Magnetic Stimulation (rTMS) in the Acute Phase Treatment of Refractory Major Depressive Episode- Role of Intrinsic Functional Connectivity Recruiting NCT03348761
49 A Prospective, Multicenter Trial Program in China to Evaluate the Efficacy and Safety of BuMA Supreme (eG Grafting) Biodegradable Polymer Sirolimus Eluting Stent in Patients With de Novo Coronary Lesions, OPC Trial Active, not recruiting NCT02698852
50 A Prospective, Multi-center, Randomized Controlled Study to Evaluate the Safety and Efficacy of the NOVA Sirolimus Eluting Stent Versus the Apollo Stent Active, not recruiting NCT02578069

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:

41
Heart, Testes, Eye, Lung, Pituitary, Colon, Liver

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

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

(show top 50) (show all 2967)
# Title Authors PMID Year
1
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. 38 8 71
27005418 2016
2
Novel Kidins220/ARMS Splice Isoforms: Potential Specific Regulators of Neuronal and Cardiovascular Development. 8
26083449 2015
3
An optimized Mamdani FPD controller design of cardiac pacemaker. 38
30588292 2019
4
Self-reported sinus headaches are associated with neck pain and cervical musculoskeletal dysfunction: a preliminary observational case control study. 38
30935330 2019
5
Neo-aortic insufficiency late after staged reconstruction for hypoplastic left heart syndrome: impact of differences in initial palliative procedures. 38
30915524 2019
6
Transcutaneous Suture Tip Plasty: The Technique and Outcomes. 38
31007036 2019
7
Analysis of aortic pressure fields from 4D flow MRI in healthy volunteers: Associations with age and left ventricular remodeling. 38
30714258 2019
8
Rapid Screening of Trace Volatile and Nonvolatile Illegal Drugs by Miniature Ion Trap Mass Spectrometry: Synchronized Flash-Thermal-Desorption Purging and Ion Injection. 38
31311269 2019
9
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. 38
31373179 2019
10
Reply: Should we "double breast" the sino-tubular junction with an adventitial flap during root repair in type A dissection? 38
31420142 2019
11
Effect of microvascular invasion on the postoperative long-term prognosis of solitary small HCC: a systematic review and meta-analysis. 38
30871805 2019
12
Safety and Efficacy of Biatrial vs. Left Atrial Surgical Ablation During Concomitant Cardiac Surgery: A Meta-Analysis of Clinical Studies With a Focus on the Causes of Pacemaker Implantation. 38
31402470 2019
13
An updated review of mucosal melanoma: Survival meta-analysis. 38
31281645 2019
14
Endoscopic sinus surgery with and without computer assisted navigation: A retrospective study. 38
30528105 2019
15
Study on the Genetic Differentiation of Geographic Populations of Calliptamus italicus (Orthoptera: Acrididae) in Sino-Kazakh Border Areas Based on Mitochondrial COI and COII Genes. 38
31086944 2019
16
Diseases Have No Borders, Neither Should Research! 38
31422876 2019
17
Datasets evidencing research on classroom practice in L2 disciplinary writing. 38
31384640 2019
18
Bilateral ectopic third molars in maxillary sinus associated with dentigerous cyst-A rare case report. 38
31401439 2019
19
Computational fluid dynamic analysis of aggressive turbinate reductions: is it a culprit of empty nose syndrome? 38
31077575 2019
20
Asymptomatic vs symptomatic septal perforations: a computational fluid dynamics examination. 38
31141844 2019
21
Harmonization of proton treatment planning for head and neck cancer using pencil beam scanning: first report of the IPACS collaboration group. 38
31393203 2019
22
Escalation in mucus cystatin 2, pappalysin-A, and periostin levels over time predict need for recurrent surgery in chronic rhinosinusitis with nasal polyps. 38
31430426 2019
23
Proton vs photon: A model-based approach to patient selection for reduction of cardiac toxicity in locally advanced lung cancer. 38
31431365 2019
24
The Qigong Wuqinxi for chronic obstructive pulmonary disease: Protocol for a systematic review and meta-analysis. 38
31348315 2019
25
[The influence of comorbid mental disorders on quality of life in patients with chronic rhinosinusitis]. 38
30949722 2019
26
Sino-Nasal Anatomical Variations in Rhinogenic Headache Pathogenesis. 38
31299754 2019
27
Turkish validation of the Sino-Nasal Outcome Test-22. 38
30891883 2019
28
Sino Longitudinal Study on Cognitive Decline (SILCODE): protocol for a Chinese longitudinal observational study to develop risk prediction models of conversion to mild cognitive impairment in individuals with subjective cognitive decline. 38
31350244 2019
29
Athyrium plants - Review on phytopharmacy properties. 38
31193938 2019
30
The Effects of Endoscopic Sinus Surgery on Voice Characteristics in Chronic Rhinosinusitis Patients. 38
31315428 2019
31
[Efficacy and safety of Gantaishu Capsules for viral B hepatitis:a systematic review and Meta-analysis]. 38
31359701 2019
32
Comparative Study of the Effectiveness of sub mucosal Partial Inferior Turbinectomy and Out fracture of Inferior Turbinate in the Nasal Respiratory Function of Rhinoplasty Patients. 38
31263933 2019
33
Differential perception and tolerance of chronic rhinosinusitis symptoms as a confounder of gender-disparate disease burden. 38
31314960 2019
34
Factors of success of low-dose macrolides in chronic sinusitis: Systematic review and meta-analysis. 38
30746710 2019
35
Forging Marxist psychology in China's Cold War geopolitics, 1949-1965. 38
31355664 2019
36
Sinonasal quality-of-life outcomes after endoscopic endonasal skull base surgery. 38
31356005 2019
37
Evaluation of the psychometric properties of the endoscopic endonasal sinus and skull base surgery questionnaire (EES-Q) in a prospective cohort study. 38
30901156 2019
38
Aortic roots assessment by an automated three-dimensional transesophageal echocardiography: an intra-individual comparison. 38
31297671 2019
39
Dupilumab improves health-related quality of life in patients with chronic rhinosinusitis with nasal polyposis. 38
31306495 2019
40
Contrasting Paternal and Maternal Genetic Histories of Thai and Lao Populations. 38
30980085 2019
41
Treatment Outcomes in Chronic Rhinosinusitis Refractory to Maximal Medical Therapy: A Prospective Observational Study Under Real-World Conditions. 38
31266398 2019
42
Thirteen kinds of Chinese medicine injections for acute exacerbation of chronic obstructive pulmonary disease: Protocol for a systematic review and network meta-analysis. 38
31261564 2019
43
From the Sino-German collaboration on purines to the Chinese Purine Club. 38
31243615 2019
44
Is post orthognathic maxillary sinusitis related to sino-nasal anatomical alterations? 38
30935854 2019
45
Invasive sino-orbital fungal infections in immunocompetent patients: a clinico-pathological study. 38
30765886 2019
46
Selective denervation of the aortic and carotid baroreceptors in rats. 38
31161612 2019
47
Characterization of the mitochondrial genome of Megalobrama terminalis in the Heilong River and a clearer phylogeny of the genus Megalobrama. 38
31186443 2019
48
Free nasal floor mucosal grafting after endoscopic total ethmoidectomy for severe nasal polyposis: a pilot study. 38
30688317 2019
49
Does bilateral inferior turbinate reduction affect long-term quality-of-life outcomes in patients undergoing endoscopic sinus surgery? 38
30702220 2019
50
Tavipec® in acute rhinosinusitis: a multi-centre, doubleblind, randomized, placebo-controlled, clinical trial. 38
31210177 2019

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KIDINS220 NM_020738.4(KIDINS220): c.4050G> A (p.Trp1350Ter) single nucleotide variant Pathogenic rs1057519300 2:8873577-8873577 2:8733447-8733447
2 KIDINS220 NM_020738.4(KIDINS220): c.4096C> T (p.Gln1366Ter) single nucleotide variant Pathogenic rs1057519301 2:8872070-8872070 2:8731940-8731940
3 KIDINS220 NM_020738.4(KIDINS220): c.4520dup (p.Leu1507fs) duplication Pathogenic rs1057519302 2:8871646-8871646 2:8731516-8731516
4 KIDINS220 NM_020738.4(KIDINS220): c.5079_5080del (p.Asn1693fs) deletion Pathogenic rs1131692229 2:8871086-8871087 2:8730956-8730957
5 KIDINS220 NM_020738.4(KIDINS220): c.4138C> T (p.Gln1380Ter) single nucleotide variant Likely pathogenic rs1553305080 2:8872028-8872028 2:8731898-8731898
6 KIDINS220 NM_020738.4(KIDINS220): c.299G> A (p.Arg100His) single nucleotide variant Uncertain significance 2:8957755-8957755 2:8817625-8817625
7 KIDINS220 NM_020738.4(KIDINS220): c.974A> G (p.Asn325Ser) single nucleotide variant not provided 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
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17 EFO
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30 HGMD
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32 HPO
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38 LifeMap
40 LOVD
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62 PubMed
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