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 obsolete: 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 lung, and related phenotypes are obesity and intellectual disability

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 249)
# Related Disease Score Top Affiliating Genes
1 obsolete: sino-auricular heart block 12.3
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 squamous cell papilloma 10.2
12 papilloma 10.2
13 mucormycosis 10.2
14 inverted papilloma 10.2
15 pertussis 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 lymphoma 10.1
22 headache 10.1
23 syncope 10.1
24 atrioventricular block 10.1
25 sinoatrial node disease 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 melanoma 10.0
39 rhabdomyosarcoma 10.0
40 ebola hemorrhagic fever 10.0
41 cataract 10.0
42 orbital disease 10.0
43 hypertension, essential 9.9
44 migraine with or without aura 1 9.9
45 cystic fibrosis 9.9
46 immune deficiency disease 9.9
47 myeloma, multiple 9.9
48 stroke, ischemic 9.9
49 yemenite deaf-blind hypopigmentation syndrome 9.9
50 nasopharyngeal carcinoma 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 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
4 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
5 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
6 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
7 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
8 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
9 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
10 progressive spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0007020
11 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
12 abnormal cns myelination 58 31 frequent (33%) Frequent (79-30%) HP:0011400
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 hyperreflexia 31 HP:0001347
17 global developmental delay 31 HP:0001263
18 delayed speech and language development 31 HP:0000750
19 full cheeks 31 HP:0000293
20 reduced visual acuity 31 HP:0007663
21 spastic paraplegia 31 HP:0001258
22 astigmatism 31 HP:0000483
23 delayed myelination 31 HP:0012448
24 cerebral atrophy 31 HP:0002059
25 esotropia 31 HP:0000565
26 dilation of lateral ventricles 31 HP:0006956
27 muscular hypotonia of the trunk 31 HP:0008936
28 limb hypertonia 31 HP:0002509

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
hyperreflexia
spastic paraplegia
delayed myelination
cerebral atrophy
more
Head And Neck Head:
prominent forehead
enlarged head circumference
brachyplagiocephaly

Muscle Soft Tissue:
limb hypertonia
axial hypotonia

Growth Weight:
obesity, postnatal

Head And Neck Eyes:
nystagmus
astigmatism
esotropia
hypermetropia
deep-set eyes
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 91)
# 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 Immunosuppressive Agents Phase 4
7 Pharmaceutical Solutions Phase 4
8 Polyvinyl alcohol formaldehyde foam Phase 4
9 triamcinolone acetonide Phase 4
10 Triamcinolone diacetate Phase 4
11 Triamcinolone hexacetonide Phase 4
12
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
13
Tobramycin Approved, Investigational Phase 3 32986-56-4 5496 36294
14
Licorice Approved Phase 2, Phase 3
15 Antineoplastic Agents, Hormonal Phase 3
16 Vaccines Phase 3
17 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
18 Omega 3 Fatty Acid Phase 3
19 Soybean oil, phospholipid emulsion Phase 3
20 Parenteral Nutrition Solutions Phase 3
21 Fat Emulsions, Intravenous Phase 3
22 Soy Bean Phase 3
23 Anti-Bacterial Agents Phase 3
24 Anti-Infective Agents Phase 3
25 Antibiotics, Antitubercular Phase 3
26
Colistin Approved Phase 2 1066-17-7, 1264-72-8 5311054
27
mometasone furoate Approved, Investigational, Vet_approved Phase 2 83919-23-7
28
Furosemide Approved, Vet_approved Phase 2 54-31-9 3440
29
Levofloxacin Approved, Investigational Phase 1, Phase 2 100986-85-4 149096
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
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
33 Natriuretic Agents Phase 2
34 Sodium Potassium Chloride Symporter Inhibitors Phase 2
35 diuretics Phase 2
36 Antitubercular Agents Phase 1, Phase 2
37 Gentamicins Phase 1, Phase 2
38 Dermatologic Agents Phase 1, Phase 2
39 Interleukin-12 Phase 1, Phase 2
40
Metformin Approved Phase 1 657-24-9 14219 4091
41
Xylometazoline Approved, Investigational Phase 1 526-36-3 5709
42
Cetirizine Approved Phase 1 83881-51-0 2678
43
Ciclesonide Approved, Investigational Phase 1 126544-47-6, 141845-82-1 444033
44
Tyrosine Approved, Investigational, Nutraceutical Phase 1 60-18-4 6057
45 Hypoglycemic Agents Phase 1
46 Immunologic Factors Phase 1
47 Histamine H1 Antagonists Phase 1
48 Histamine Antagonists Phase 1
49
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
50
Oxymetazoline Approved, Investigational 1491-59-4 4636

Interventional clinical trials:

(show top 50) (show all 58)
# 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 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 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 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 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
22 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
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 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 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 PCR Analysis of Nasal Polyps for Fungal DNA Completed NCT00739921
33 The Sinonasal Outcome Test - 22, Validated for Danish Patients Completed NCT01254916
34 A Prospective Observational Study of the Clinical Performance of Zarin in Madagascar Completed NCT01200576
35 Response Shift in Sinus Surgery Outcomes Completed NCT01391910
36 Danish Title: Afprøvning af indføringsrør Til Forureningsfri Podning af næsens Bihuler (Den Forureningsfri Podepind) Completed NCT02924103
37 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
38 Paced And Sensed Electrical Delay in CRT Therapy (PASED CRT) Completed NCT02803775
39 Effect of Health Promotion on Allergic Rhinitis by Infrared-C Ray Irradiation Completed NCT03673384 Xyzal Oral Product;Fluticasone Furoate
40 Circulating Biomarker(s) of Muscarinic Receptor Overexpression and Vagal Disorders. Completed NCT01358461
41 Cardiac Autonomic Changes After Endoscopic Thoracic Sympathectomy For Essential Palmar Hyperhidrosis: Results Of A Prospective, Randomized Study Completed NCT02733497
42 Safety and Efficacy of Lactococcus Lactis Probiotic Bacteria for the Treatment of Chronic Rhinosinusitis Completed NCT04048174
43 The Use of Home-monitoring and mHealth Systems to Predict Asthma Control and the Occurrence of Asthma Exacerbations Completed NCT02774772
44 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
45 Feasibility of Transnasal ECHO for Identification of Parapharyngeal Internal Carotid Artery Recruiting NCT03838640
46 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
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:

40
Heart, Testes, Lung, Pituitary, Eye, Thyroid, Bone

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

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

(show top 50) (show all 3047)
# Title Authors PMID Year
1
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. 61 56 6
27005418 2016
2
Novel Kidins220/ARMS Splice Isoforms: Potential Specific Regulators of Neuronal and Cardiovascular Development. 56
26083449 2015
3
"In-Office Balloon Sinus Ostial Dilation with Concurrent Antiplatelet and Anticoagulant Therapy for Chronic Rhinosinusitis without Nasal Polyps". 61
31690091 2020
4
Fungal Rhinosinusitis and Disseminated Invasive Aspergillosis in Cats. 61
31866094 2020
5
Migrant female sex workers working at the Sino-Vietnamese border for a short time have a higher risk of HIV transmission: a consecutive cross-sectional study. 61
32033564 2020
6
Bony orbital changes in allergic fungal sinusitis are reversible after treatment. 61
31169421 2020
7
Contemporary analysis of otolaryngic allergy. 61
30982993 2020
8
Socioeconomic and demographic determinants of postoperative outcome after endoscopic sinus surgery. 61
31099424 2020
9
Quality-of-life and olfaction changes observed with short-term medical management of chronic rhinosinusitis. 61
32017433 2020
10
Nasal vestibular body treatment for recalcitrant nasal obstruction. 61
32017469 2020
11
Correlation of intensity-modulated radiation therapy at a specific radiation dose with the prognosis of nasal mucous damage after radiotherapy. 61
32030481 2020
12
Non-Aspergillus Hyaline Molds: Emerging Causes of Sino-Pulmonary Fungal Infections and Other Invasive Mycoses. 61
32000288 2020
13
Pre-quaternary diversification and glacial demographic expansions of Cardiocrinum (Liliaceae) in temperate forest biomes of Sino-Japanese Floristic Region. 61
31778814 2020
14
Inferior Meatus Augmentation Procedure (IMAP) to Treat Empty Nose Syndrome: A Pilot Study. 61
31935161 2020
15
Evolutionary history of a relict conifer, Pseudotaxus chienii (Taxaceae), in south-east China during the late Neogene: old lineage, young populations. 61
31765468 2020
16
Differences in self-reported symptoms in patients with chronic odontogenic and non-odontogenic rhinosinusitis. 61
31924413 2020
17
Management of Orbital Masses: Outcomes of Endoscopic and Combined Approaches With No Orbital Reconstruction. 61
31984165 2020
18
Reporting Outcomes and Outcome Measures in Open Rhinoplasty: A Systematic Review. 61
31051500 2020
19
Long-term treatment with clarithromycin and carbocisteine improves lung function in chronic cough patients with chronic rhinosinusitis. 61
31732313 2020
20
Efficacy of lianhuaqingwen granules in the management of chronic rhinosinusitis without nasal polyps. 61
31732300 2020
21
Use of mucosal eosinophil count as a guide in the management of chronic rhinosinusitis. 61
31930720 2020
22
Paternal genetic history of the Yong population in northern Thailand revealed by Y-chromosomal haplotypes and haplogroups. 61
31932897 2020
23
Clinical outcome of endonasal endoscopic prelacrimal approach in managing different maxillary pathologies. 61
31915590 2020
24
Dynamic Change of T-Helper Cell Cytokines in Nasal Secretions and Serum after Endoscopic Sinus Surgery in Chronic Rhinosinusitis with Nasal Polyps. 61
31945761 2020
25
Dupilumab improves health-related quality of life in patients with chronic rhinosinusitis with nasal polyposis. 61
31306495 2020
26
Dual and Triple Epithelial Coculture Model Systems with Donor-Derived Microbiota and THP-1 Macrophages To Mimic Host-Microbe Interactions in the Human Sinonasal Cavities. 61
31941815 2020
27
Nasal and Lacrimal Sac Histopathology in Patients With Granulomatous Polyangiitis Undergoing Lacrimal Drainage Surgery. 61
31593043 2020
28
Sino-nasal outcome test-22: Cross-cultural adaptation and validation in Russian speaking patients. 61
31967705 2020
29
Baseline mucus cytokines predict 22-item Sino-Nasal Outcome Test results after endoscopic sinus surgery. 61
31645085 2020
30
Bilateral simultaneous sino-nasal inverted papilloma; A report of two cases and literature review. 61
32028092 2020
31
Sino-orbital infection caused by Schizophyllum commune - rare presentation of a basidiomycetous fungus. 61
32037101 2020
32
Development, reliability, validity and sensitivity of the Sino-Nasal Outcome Test for Neurosurgery (SNOT-NC). 61
31559491 2020
33
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. 61
31577543 2020
34
Morbidities Associated With the Endoscopic Transnasal Transpterygoid Approach: Focusing on Postoperative Sequelae. 61
31863890 2019
35
Smart Baroreceptor Activation Therapy Strikingly Attenuates Blood Pressure Variability in Hypertensive Rats With Impaired Baroreceptor. 61
31884856 2019
36
An optimized Mamdani FPD controller design of cardiac pacemaker. 61
30588292 2019
37
Isolated fronto-ethmoidal allergic fungal rhinosinusitis: case report and review of the literature. 61
31910185 2019
38
The treatment efficacy of nasal polyposis on olfactory functions, clinical scoring systems and inflammation markers. 61
31473779 2019
39
A cross-linguistic comparison of category verbal fluency test (ANIMALS): a systematic review. 61
31813955 2019
40
The Effects of Endoscopic Sinus Surgery on Voice Characteristics in Chronic Rhinosinusitis Patients. 61
31315428 2019
41
Sinomenine restrains breast cancer cells proliferation, migration and invasion via modulation of miR-29/PDCD-4 axis. 61
31556312 2019
42
Acute Exacerbations in Recurrent Acute Rhinosinusitis: Differences in Quality of Life and Endoscopy. 61
31837149 2019
43
Manuka honey sinus irrigations in recalcitrant chronic rhinosinusitis: phase 1 randomized, single-blinded, placebo-controlled trial. 61
31461581 2019
44
Benefits and harms of aspirin desensitization for aspirin-exacerbated respiratory disease: a systematic review and meta-analysis. 61
31518069 2019
45
Impact of age on outcomes following endoscopic sinus surgery for chronic rhinosinusitis. 61
31557428 2019
46
Predictors of efficacy for combination oral and topical corticosteroids to treat patients with chronic rhinosinusitis with nasal polyps. 61
31609091 2019
47
Appropriate medical management of chronic rhinosinusitis reduces use of antibiotics and oral corticosteroids. 61
31846092 2019
48
The Ross Operation in Children: 23-Year Experience from a Single Institution. 61
31863757 2019
49
Autonomic dysfunction as an independent risk factor for uncontrolled inflammation in chronic rhinosinusitis following functional endoscopic sinus surgery. 61
31886799 2019
50
Does Middle Meatal Antrostomy Prevent the Onset of Maxillary Sinusitis After Zygomatic Implant Placement? 61
31445033 2019

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.4050G>A (p.Trp1350Ter)SNV Pathogenic 374908 rs1057519300 2:8873577-8873577 2:8733447-8733447
2 KIDINS220 NM_020738.4(KIDINS220):c.4096C>T (p.Gln1366Ter)SNV Pathogenic 374909 rs1057519301 2:8872070-8872070 2:8731940-8731940
3 KIDINS220 NM_020738.4(KIDINS220):c.4520dup (p.Leu1507fs)duplication Pathogenic 374910 rs1057519302 2:8871645-8871646 2:8731515-8731516
4 KIDINS220 NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs)deletion Pathogenic 430805 rs1131692229 2:8871086-8871087 2:8730956-8730957
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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