TS
MCID: TRN020
MIFTS: 66

Turner Syndrome (TS)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Turner Syndrome

MalaCards integrated aliases for Turner Syndrome:

Name: Turner Syndrome 12 75 53 25 59 29 43 44 15 72 33
Monosomy X 12 75 25 59 72
Gonadal Dysgenesis Turner Type 75 53
Bonnevie-Ullrich Syndrome 12 72
Ullrich-Turner Syndrome 53 25
Gonadal Dysgenesis 53 72
Turner's Syndrome 75 25
Schereshevkii Turner Syndrome 53
Gonadal Dysgenesis - Turner 12
Bonnevie-Ulrich Syndrome 53
Gonadal Dysgenesis, 45,x 72
Chromosome X Monosomy X 53
Turner Varny Syndrome 53
Monosomy X Syndrome 12
45,x/46,xx Syndrome 59
Turners Syndrome 55
Syndrome, Turner 40
Karyotype 45, X 12
45, X Syndrome 53
45,x Syndrome 59
Xo Syndrome 12
45,x 25
Ts 25

Characteristics:

Orphanet epidemiological data:

59
turner syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Austria),1-9/100000 (Belgium),1-5/10000 (Bulgaria),1-9/100000 (Croatia),1-5/10000 (Denmark),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-9/100000 (Malta),1-5/10000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Poland),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:3491
MeSH 44 D014424
SNOMED-CT 68 38804009
ICD10 33 Q96 Q96.0 Q96.9
MESH via Orphanet 45 D014424
ICD10 via Orphanet 34 Q96.0 Q96.1 Q96.2 more
UMLS via Orphanet 73 C0041408 C0242526
UMLS 72 C0018051 C0041408 C0242526 more

Summaries for Turner Syndrome

Genetics Home Reference : 25 Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood. About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening. Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.

MalaCards based summary : Turner Syndrome, also known as monosomy x, is related to gonadal dysgenesis and premature ovarian failure 1. An important gene associated with Turner Syndrome is SHOX (Short Stature Homeobox), and among its related pathways/superpathways are Endochondral Ossification and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drugs Pioglitazone and Tranexamic Acid have been mentioned in the context of this disorder. Affiliated tissues include lung, breast and bone, and related phenotypes are short neck and osteopenia

NIH Rare Diseases : 53 Turner syndrome is a chromosomal disorder that affects development in females. It results when a female's cells have one normal X chromosome and the other sex chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell, and males have one X and one Y chromosome). Signs and symptoms may include short stature, premature ovarian failure, a "webbed" neck, a low hairline at the back of the neck, and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant.

MedlinePlus : 43 Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck Low hairline in the back Low-set ears Swollen hands and feet Most women with Turner syndrome are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems. Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant. NIH: National Institute of Child Health and Human Development

Wikipedia : 75 Turner syndrome (TS), also known 45,X, or 45,X0, is a genetic condition in which a female is partly or... more...

Related Diseases for Turner Syndrome

Diseases in the Turner Syndrome family:

Pseudo-Turner Syndrome Turner Syndrome Due to Structural X Chromosome Anomalies

Diseases related to Turner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1209)
# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis 32.5 TSPY1 SRY AMH
2 premature ovarian failure 1 32.5 SRY SHBG IGFBP3 AMH
3 47,xyy 31.7 SRY IGFBP3
4 growth hormone deficiency 31.2 IGFBP3 IGF1 GH1
5 slipped capital femoral epiphysis 30.8 IGFBP3 IGF1
6 complete androgen insensitivity syndrome 30.8 SRY SHBG IGFBP3
7 isolated growth hormone deficiency 30.7 IGF1 GHR GH1
8 hypopituitarism 30.7 IGFBP3 IGF1 GH1
9 hyperprolactinemia 30.7 SHBG IGF1 GH1
10 empty sella syndrome 30.5 IGF1 GH1
11 leri-weill dyschondrosteosis 30.5 SRY SHOX2 SHOX GHR
12 47, xxy 30.4 SHBG IGFBP3
13 glucose intolerance 30.3 SHBG IGFBP1 IGF1
14 pituitary hormone deficiency, combined, 2 30.3 IGF1 GHR GH1
15 secondary adrenal insufficiency 30.3 IGFBP3 IGF1
16 pseudohypoparathyroidism, type ia 30.3 IGF1 GH1
17 central precocious puberty 30.2 IGF1 GH1
18 46 xy gonadal dysgenesis 30.0 SRY SHBG CGB3
19 hyperandrogenism 29.9 SHBG IGFBP1 IGF1
20 testicular seminoma 29.8 TSPY1 CGB3
21 polycystic ovary syndrome 29.8 SHBG IGFBP1 IGF1
22 mixed gonadal dysgenesis 29.8 SRY AMH
23 hyperinsulinism 29.7 SHBG IGFBP3 IGFBP1 IGF1 GH1
24 anorexia nervosa 29.7 IGFBP3 IGFBP1 IGF1 GHR GH1
25 silver-russell syndrome 29.6 IGFBP3 IGFBP1 IGF1 GH1
26 goiter 29.5 TPO TG BGLAP
27 prader-willi syndrome 29.4 IGFBP3 IGFBP1 IGF1 GHR GH1
28 acromegaly 29.4 IGFBP3 IGFBP1 IGF1 GHR GH1
29 breast disease 29.3 SHBG IGFBP3 IGFBP1 IGF1
30 diabetes mellitus, noninsulin-dependent 29.3 SHBG IGFBP3 IGFBP1 IGF1 GH1
31 hypothyroidism 29.3 TPO TG SHBG IGFBP3 IGF1 GH1
32 osteoporosis 29.2 SHBG IGFBP3 IGF1 GHR GH1 BGLAP
33 cryptorchidism, unilateral or bilateral 29.1 SRY SHBG AMH
34 ovarian disease 29.0 SHBG IGFBP1 IGF1 AMH
35 graves disease 1 28.9 TPO TG
36 differentiated thyroid carcinoma 28.8 TPO TG BGLAP
37 premature menopause 28.8 TPO TG AMH
38 hyperthyroidism 28.8 TPO TG SHBG GH1 BGLAP
39 insulin-like growth factor i 28.7 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
40 diabetes mellitus, insulin-dependent 28.6 TPO TG IGFBP3 IGFBP1 IGF1
41 body mass index quantitative trait locus 11 28.6 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
42 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 12.8
43 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 12.8
44 parsonage turner syndrome 12.6
45 gonadal dysgenesis, xy type, with associated anomalies 12.5
46 mental retardation, x-linked, syndromic, turner type 12.5
47 45,x/46,xy mixed gonadal dysgenesis 12.5
48 46,xy partial gonadal dysgenesis 12.5
49 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.5
50 gilles de la tourette syndrome 12.4

Graphical network of the top 20 diseases related to Turner Syndrome:



Diseases related to Turner Syndrome

Symptoms & Phenotypes for Turner Syndrome

Human phenotypes related to Turner Syndrome:

59 32 (show top 50) (show all 120)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000470
2 osteopenia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000938
3 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002750
4 short stature 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
5 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000823
6 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000939
7 increased circulating gonadotropin level 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000837
8 short sternum 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000879
9 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001511
10 cubitus valgus 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002967
11 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006610
12 aplasia/hypoplasia of the nipples 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006709
13 premature ovarian insufficiency 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008209
14 female infertility 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008222
15 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008897
16 increased upper to lower segment ratio 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012774
17 high urinary gonadotropin level 32 hallmark (90%) HP:0003492
18 abnormal forearm bone morphology 32 hallmark (90%) HP:0040073
19 low-set ears 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000369
20 obesity 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001513
21 genu valgum 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002857
22 hypertension 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000822
23 kyphosis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002808
24 hearing impairment 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
25 micrognathia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000347
26 high, narrow palate 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002705
27 retrognathia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000278
28 recurrent otitis media 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000403
29 webbed neck 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000465
30 thickened nuchal skin fold 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000474
31 broad neck 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000475
32 anxiety 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000739
33 impaired use of nonverbal behaviors 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000758
34 primary amenorrhea 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000786
35 secondary amenorrhea 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000869
36 hashimoto thyroiditis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000872
37 shield chest 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000914
38 specific learning disability 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001328
39 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001397
40 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001531
41 hypoplastic toenails 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001800
42 low posterior hairline 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002162
43 elevated hepatic transaminase 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002910
44 dermatoglyphic ridges abnormal 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0005689
45 enlargement of the distal femoral epiphysis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006438
46 irregular proximal tibial epiphyses 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006456
47 neck pterygia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0009759
48 short 4th metacarpal 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010044
49 short 5th metacarpal 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010047
50 hypermobility of toe joints 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010510

MGI Mouse Phenotypes related to Turner Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.1 GHR IGF1 IGFBP3 SHOX2 TG TPO

Drugs & Therapeutics for Turner Syndrome

Drugs for Turner Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1764)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
2
Tranexamic Acid Approved Phase 4 1197-18-8 5526
3
Cloxacillin Approved, Investigational, Vet_approved Phase 4 61-72-3 6098
4
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
5
Digoxin Approved Phase 4 20830-75-5 30322 2724385
6
Fesoterodine Approved Phase 4 286930-03-8, 286930-02-7 6918558
7
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
8
Glimepiride Approved Phase 4 93479-97-1 3476
9
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
10
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
11
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
12
Chlorpromazine Approved, Investigational, Vet_approved Phase 4 50-53-3 2726
13
Icodextrin Approved, Investigational Phase 4 337376-15-5
14
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 5282452 6366718
15
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
16
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
17
Polyestradiol phosphate Approved Phase 4 28014-46-2
18
Drospirenone Approved Phase 4 67392-87-4 68873
19
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
20
Cetrorelix Approved, Investigational Phase 4 120287-85-6 25074887 16129715
21
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
22
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
23
Lactulose Approved Phase 4 4618-18-2 11333
24
Bisacodyl Approved Phase 4 603-50-9
25
Primaquine Approved Phase 4 90-34-6 4908
26
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
27
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787
28
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
29
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616 46835353
30
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
31
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
32
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
33
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
34
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
35
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
36
Mycophenolic acid Approved Phase 4 24280-93-1 446541
37
Methylcobalamin Approved, Experimental, Investigational Phase 4 13422-55-4
38
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
39
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
40
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
41
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
42
Lacosamide Approved Phase 4 175481-36-4, 860352-01-8 219078
43
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
44
Phylloquinone Approved, Investigational Phase 4 84-80-0
45
Ibutilide Approved Phase 4 122647-32-9, 122647-31-8 60753
46
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
47
Caffeine Approved Phase 4 58-08-2 2519
48
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
49
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
50
Scopolamine Approved, Investigational Phase 4 6533-68-2, 51-34-3 5184

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 The Monitor of Serum Prolactin Level and Related Clinical Observations Among Individuals With Schizophrenia Spectrum Illnesses in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4 Aripiprazole
2 Thoracolumbar Burstfractures, Orthesis or no Orthesis Unknown status NCT02784782 Phase 4
3 Pilot Study Investigating the Use of Intravitreal Ranibizumab in the Treatment of Vitreous Hemorrhage in Proliferative Diabetic Retinopathy Unknown status NCT01824043 Phase 4 intravitreal ranibizumab injections
4 Rifampin Combination Therapy Versus Monotherapy in Early Staphylococcal Infections After Total Hip and Knee Arthroplasty Unknown status NCT00423982 Phase 4 Rifampin-combination therapy;Monotherapy
5 A New More Efficient Cycloplegia Scheme Unknown status NCT02177539 Phase 4 Cyclopentolate;Cyclopentolate+tropicamide+phenylephrine
6 Validation of a Device for Performing Valgus and Varus Stress X-rays of the Knee Unknown status NCT02444663 Phase 4
7 IN-PACT CORO INtimal hyPerplasia evAluated by oCT in de Novo COROnary Lesions Treated by Drug-eluting Balloon and Bare-metal Stent Unknown status NCT01057563 Phase 4
8 Assessment of Coagulation Abnormalities in Acute on Chronic Liver Failure Patients Using Thromboelastography Unknown status NCT02757170 Phase 4
9 Endoesophageal Cryotherapy: A New Technique For Ablating Barrett's Esophagus And Early Stage Esophageal Cancer Unknown status NCT00628784 Phase 4
10 Living With Statins - The Impact of Cholesterol Lowering Drugs on Health, Lifestyle and Well-being Unknown status NCT02796378 Phase 4 Training+Simvastatin+Q10-placebo;Training+Simvastatin-placebo+Q10-placebo;Training+Simvastatin+Q10
11 The 001-DIOR Multicenter Registry (A Novel Percutaneous Coronary Intervention With the New Paclitaxel-eluting Balloon DIOR in Ostial Bifurcated Lesions) Unknown status NCT01375465 Phase 4
12 A Study of Topiramate Augmentation in Serotonin Reuptake Inhibitor (SRI) -Refractory Obsessive Compulsive Disorder Unknown status NCT00182520 Phase 4 Topiramate;placebo
13 Randomized, Single Blinded Controlled Trial for Evaluation of the Safety and Efficacy of Loteprednol Versus Fluorometholone After Photorefractive Keratectomy for the Correction of Mild to Moderate Myopia, 3- Month Follow-up Study Unknown status NCT02974387 Phase 4 Fluorometholone(FML);Loteprednol (Lotemax)
14 Efficacy of Calcium Silicate Pulp-capping; a Randomized Controlled Clinical Trial Unknown status NCT02201641 Phase 4
15 Treatment of Nephrotic Syndrome Relapse With Low Steroid Dose Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
16 PET/CT and Roentgen in Lung Cancer. Evaluation of Patients in General Practice Unknown status NCT00675168 Phase 4
17 Comparative Immunogenicity Study of Two Live Attenuated Hepatitis A Vaccines Unknown status NCT03231605 Phase 4
18 Effect of Intense Pulse Light (IPL) Treatment on Tear Film Osmolarity in Dry Eye Disease (DED) With Meibomian Gland Dysfunction (MGD). Unknown status NCT02992535 Phase 4
19 National Study, Phase IV, Single-center, Double-blind, Randomized, Parallel, Controlled by 10 mg Oral Zolpidem, in Evaluating the Efficacy and Safety of Zolpidem 5 mg Sublingual in the Induction and Maintenance of Sleep in Patients With Primary Insomnia Unknown status NCT01896336 Phase 4 Zolpidem Hemitartrate
20 Identifying Predictors of Response in 12 Weeks of Treatment With Antipsychotics Using a Treatment Algorithm for Schizophrenia Unknown status NCT01016145 Phase 4 Antipsychotics;Antipsychotics
21 Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia Unknown status NCT01554761 Phase 4
22 Additional Linear Ablation Perpendicular to the Pulmonary Vein Isolation Line Reduces the Recurrence Rate of Paroxysmal Atrial Fibrillation (ALA-PAF) Unknown status NCT02637453 Phase 4
23 Comparison of Triple Therapy Regimens Effectiveness Over 10 Days and 14 Days in Eradication of Helicobacter Pylori Infection: Double Blind Randomized Clinical Trial Unknown status NCT03134378 Phase 4 Rabeprazole Sodium 20mg;Clarithromycin 500mg;Amoxicillin 500 Mg
24 Secondary Prophylaxis of Hepatic Encephalopathy in Cirrhosis: An Open Label, Randomized Controlled Trial of Lactulose, Probiotics and No-therapy Unknown status NCT01178372 Phase 4 Lactulose;Probiotics(VSL#3)
25 Atropine in Laparoscopic Gynaecological Surgery (The ALGOS Trial) A Randomised, Double Blind, Controlled Trial Unknown status NCT02769325 Phase 4 Atropine;Placebo;Sevoflurane;sugammadex;Ketorolac;Morphine PCA;rocuronium;propofol
26 Impact of Vitamin A Supplementation on RAR Gene Expression in PBMC Cells in Multiple Sclerotic Patients Unknown status NCT01705457 Phase 4 Dietary Supplement: vitamin A;placebo
27 Medical Research Council Working Party on Leukaemia in Children UK National Acute Lymphoblastic Leukaemia (ALL) Trial: UKALL 2003 Unknown status NCT00222612 Phase 4 Standard childhood UK ALL protocol;Intensified treatment including Capizzi maintenance
28 Comparison of Fractional Flow Reserve and Minimal Luminal Area by Intravascular Ultrasound in Evaluating Intermediate Coronary Artery Stenosis in Each Coronary Artery Unknown status NCT01133015 Phase 4
29 Clinical Study of GD-2008 ALL Protocol for Childhood Acute Lymphoblastic Leukemia in Guangdong Province Unknown status NCT00846703 Phase 4 6-mercaptopurine, Methotrexate;6-mercaptopurine, Methotrexate, Vincristine, Dexamethasone
30 Optimal Anti-Platelet Treatment for Patients With Stent IMplantation And Clopidogrel Low Response: OPTIMAL Study Unknown status NCT01955200 Phase 4 Ticagrelor;Clopidogrel;Cilostazol;Clopidogrel;Clopidogrel
31 Naproxen for Acute Pain After Surgery: A Randomized, Placebo-Controlled Trial Unknown status NCT00615875 Phase 4 naproxen;placebo
32 A Double-Blind, Randomized, Parallel, Comparative Study to Evaluate the Efficacy and Safety of an Antidiabetic Agent Repaglinide for the Treatment of Type 2 Diabetes Mellitus Patients Unknown status NCT00336310 Phase 4 Repaglinide
33 Effect of Single Dose of Tramadol on Extubation Response and Quality of Emergence(Cough and Nausea Vomiting) Following Supratentorial Intracranial Surgery Unknown status NCT02964416 Phase 4 Injection Tramadol
34 Prolonged Hemodialysis Catheter Survival With Copolymer Coating and Rt-PA - PROCOPrt-PA Trial Unknown status NCT01670474 Phase 4 rt-PA (2mg/2mL) actilysis;rt-PA
35 A Double Blind Randomized Controlled Trial to Compare Biannual Peripheral Magnetic Resonance Imaging, Radiography, and Standard of Care on Pharmacotherapeutic Escalation in Inflammatory Arthritis Unknown status NCT00808496 Phase 4
36 Evaluating the Efficacy of Different Platelet Rich Plasma (PRP) Treatment Regimens in the Management of Androgenetic Alopecia: an Investigator-initiated, Single-center, Single-blinded, Prospective, Randomized Clinical Trial Unknown status NCT02999737 Phase 4
37 The Effectiveness and Safety of Naftopidil 75mg for Improving Clearance of Ureteral and Renal Stones After Shockwave Lithotripsy: Prospective Randomized Controlled Study Unknown status NCT02011737 Phase 4 naftopidil 75mg
38 A Pilot Study of Memantine for Cognitive and Behavioral Dysfunction in Huntington's Disease" Unknown status NCT00652457 Phase 4 Memantine
39 Efficacy and Safety of a Covered Self-expandable Dual-layered Metallic Mesh Stent (UVENTA™) in Ureteral Obstruction: Prospective, Multi-center, Open Label Study Unknown status NCT01788865 Phase 4
40 A Prospective, Randomized Controlled Trial Comparing Traditional Methods of Neuromuscular Block Reversal to Sugammadex for Extubation in the Operating Room in ASA 4 and 4E Patients. Unknown status NCT01761552 Phase 4 Sugammadex Reversal;Atropine/Neostigmine
41 Efficacy and Safety of LAIS® Mites Sublingual Tablets in Patients Aged Over 60 Years Suffering From House Dust Mite-induced Allergic Rhino-conjunctivitis With/Without Asthma Unknown status NCT02277483 Phase 4 LAIS®
42 Randomised, Open-label, Parallel-group Study of the Response to Bronchodilator Treatment in Subjects With Eosinophilic Bronchitis and the Mechanism of Varied Responses to Bronchodilator Treatment. Unknown status NCT02002754 Phase 4 Bambuterol Hydrochloride tablets
43 Comparison of Two Strategies for Glycemic Control in Acute Ischemic Stroke Unknown status NCT00747279 Phase 4 Intensive insulin therapy
44 The Effects of High Doze Tranexamic Acid Application on Hemorrhage, Blood Transfusion, Fibrin Degradation Products, and Kidney Functions for Total Hip Arthroplasty Unknown status NCT02094066 Phase 4 tranexamic acid;serum physiologic
45 Effect of Glimepiride, Vildagliptin, Pioglitazone and Canagliflozin on Durability of Glycemic Control After Metformin Failure in Type 2 Diabetes Unknown status NCT02142309 Phase 4 Glimepiride;Vildagliptin;Pioglitazone;Canagliflozin
46 Norepinephrine and Phenylephrine for Cesarean Section Unknown status NCT02969239 Phase 4 Norepinephrine;Phenylephrine
47 Effect of Dexmedetomidine on Levels of Plasma Inflammatory Factor in Asthma Patients Undergoing General Anesthesia-single Center,Randomized,Double-blind,Controlled Trial Unknown status NCT02289391 Phase 4 Anesthesia induction;Anesthesia maintenance;Assisted anesthesia
48 Intensity of Exercise and Glucose Metabolism Unknown status NCT01649219 Phase 4
49 Effectiveness of Trapeziometacarpal Splint Unknown status NCT02635932 Phase 4
50 Phase 4 Study Comparison of Two Combined Oral Contraceptive Regimens and an Intravaginal Hormonal Ring Against Placebo for Management of Bleeding Problems in Women Using Implanon, the Sub-dermal Contraceptive Implant Unknown status NCT01384331 Phase 4 Marvelon

Search NIH Clinical Center for Turner Syndrome

Cochrane evidence based reviews: turner syndrome

Genetic Tests for Turner Syndrome

Genetic tests related to Turner Syndrome:

# Genetic test Affiliating Genes
1 Turner Syndrome 29

Anatomical Context for Turner Syndrome

MalaCards organs/tissues related to Turner Syndrome:

41
Lung, Breast, Bone, Testes, Prostate, Heart, Brain

Publications for Turner Syndrome

Articles related to Turner Syndrome:

(show top 50) (show all 4144)
# Title Authors PMID Year
1
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood. 38 17
30991358 2019
2
Emotional state, cognitive functioning and quality of life of adult women with Turner syndrome in Lithuania. 38 17
30921667 2019
3
Karyotype - Phenotype Associations in Patients with Turner Syndrome. 38 17
31245938 2019
4
Leg length, proportion, health and beauty: a review. 9 38
20440962 2009
5
Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia. 9 38
19850687 2009
6
Association of the exon 3 deleted/full-length GHR polymorphism with recombinant growth hormone dose in growth hormone-deficient adults. 9 38
19842933 2009
7
SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome. 9 38
19016538 2009
8
Homozygous female Becker muscular dystrophy. 9 38
19396825 2009
9
Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment. 9 38
19407498 2009
10
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. 9 38
19188812 2009
11
Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences. 9 38
19506392 2009
12
Insulin-like growth factor I and growth responses during the first year of growth hormone treatment in KIGS patients with idiopathic growth hormone deficiency, acquired growth hormone deficiency, turner syndrome and born small for gestational age. 9 38
19153504 2009
13
Analysis of the SRY gene in a girl with 45,X/46,XY genotype. 9 38
19852431 2009
14
First-trimester uterine artery Doppler and serum pregnancy-associated plasma protein-a in preeclampsia and chromosomal defects. 9 38
19776597 2009
15
Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation. 9 38
19031473 2009
16
Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome. 9 38
18545811 2008
17
Homozygosity of the d3-growth hormone receptor polymorphism is associated with a high total effect of GH on growth and a low BMI in girls with Turner syndrome. 9 38
17973940 2008
18
Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome. 9 38
19030103 2008
19
IGF-I, IGFBP-3 and ALS generation test in Turner syndrome. 9 38
17540594 2007
20
SHOX at a glance: from gene to protein. 9 38
17922307 2007
21
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. 9 38
17182655 2007
22
The Human Pseudoautosomal Region (PAR): Origin, Function and Future. 9 38
18660847 2007
23
Future directions: growth prediction models. 9 38
18174708 2007
24
Effects of growth hormone on growth, insulin resistance and related hormones (ghrelin, leptin and adiponectin) in Turner syndrome. 9 38
17204837 2007
25
Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature. 9 38
17028440 2007
26
The development of mental state attributions in women with X-monosomy, and the role of monoamine oxidase B in the sociocognitive phenotype. 9 38
16412409 2007
27
Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. 9 38
17047016 2007
28
The multiple indications for growth hormone treatment of pediatric patients. 9 38
17236440 2006
29
The GH-IGF-IGFBP axis is changed in Turner syndrome: partial normalization by HRT. 9 38
17067837 2006
30
Free dissociable insulin-like growth factor I (IGF-I), total IGF-I and their binding proteins in girls with Turner syndrome during long-term growth hormone treatment. 9 38
16918949 2006
31
The correlation of the IGF-I, IGFBP-3, and ALS generation test to height velocity after 6 months of recombinant growth hormone therapy in girls with Turner syndrome. 9 38
16908209 2006
32
Short stature and dysmorphology associated with defects in the SHOX gene. 9 38
16807223 2006
33
The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children. 9 38
16291706 2006
34
Prevalence of autoantibodies associated with thyroid and celiac disease in Ullrich-Turner syndrome in relation to adult height after growth hormone treatment. 9 38
16562588 2006
35
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. 9 38
16227037 2005
36
Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. 9 38
15931595 2005
37
Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome. 9 38
15687343 2005
38
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome. 9 38
16052861 2005
39
The IGF system in childhood: physiology and clinical implications. 9 38
16114274 2005
40
Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. 9 38
15223166 2004
41
Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome. 9 38
15173321 2004
42
Reference ranges for two automated chemiluminescent assays for serum insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3). 9 38
15259383 2004
43
Short-term growth hormone treatment in girls with Turner syndrome decreases fat mass and insulin sensitivity: a randomized, double-blind, placebo-controlled, crossover study. 9 38
12415026 2002
44
The human SHOX mutation database. 9 38
12402330 2002
45
Molecular detection of XO - Turner syndrome. 9 38
14963834 2002
46
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. 9 38
11889216 2002
47
SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. 9 38
11889214 2002
48
Short-term growth in children with growth disorders. 9 38
11822486 2002
49
Fertility, sex determination, and the X chromosome. 9 38
12900568 2002
50
Phenotypes Associated with SHOX Deficiency. 9 38
11739418 2001

Variations for Turner Syndrome

Copy number variations for Turner Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 257178 X 1 9500000 Copy number turner syndrome
2 264275 X 63000000 64600000 Copy number turner syndrome

Expression for Turner Syndrome

Search GEO for disease gene expression data for Turner Syndrome.

Pathways for Turner Syndrome

Pathways related to Turner Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.14 IGF1 GHR GH1
2 10.12 IGFBP3 IGFBP1 IGF1
3 9.73 TPO TG

GO Terms for Turner Syndrome

Cellular components related to Turner Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 TPO IGFBP3 IGFBP1 IGF1 GHR GH1
2 extracellular region GO:0005576 9.65 TG SHBG IGFBP3 IGFBP1 IGF1 GHR
3 insulin-like growth factor ternary complex GO:0042567 9.32 IGFBP3 IGF1
4 insulin-like growth factor binding protein complex GO:0016942 9.26 IGFBP3 IGF1
5 growth hormone receptor complex GO:0070195 8.62 GHR GH1

Biological processes related to Turner Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.69 SHOX2 IGFBP3 BGLAP
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.63 IGF1 GHR GH1
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.54 IGF1 GHR GH1
4 insulin-like growth factor receptor signaling pathway GO:0048009 9.49 IGF1 GHR
5 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.48 GHR GH1
6 skeletal system development GO:0001501 9.46 SHOX2 SHOX IGF1 BGLAP
7 hormone biosynthetic process GO:0042446 9.43 TPO TG
8 growth hormone receptor signaling pathway GO:0060396 9.4 GHR GH1
9 gonadal mesoderm development GO:0007506 9.32 TSPY1 AMH
10 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.26 SHOX2 GHR
11 sex differentiation GO:0007548 9.13 TSPY1 SRY AMH
12 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.8 IGFBP3 IGF1 GH1

Molecular functions related to Turner Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor binding GO:0005520 9.32 IGFBP3 IGFBP1
2 insulin-like growth factor I binding GO:0031994 9.26 IGFBP3 IGFBP1
3 insulin-like growth factor II binding GO:0031995 9.16 IGFBP3 IGFBP1
4 growth factor binding GO:0019838 9.13 IGFBP3 IGFBP1 GHR
5 hormone activity GO:0005179 9.02 TG IGF1 GH1 CGB3 AMH

Sources for Turner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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