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TS
MCID: TRN020
MIFTS: 67

Turner Syndrome (TS)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Turner Syndrome

About this section

MalaCards integrated aliases for Turner Syndrome:

Name: Turner Syndrome 12 74 20 43 58 29 6 42 44 15 71 32
Monosomy X 12 74 43 58 71
Gonadal Dysgenesis Turner Type 74 20
Bonnevie-Ullrich Syndrome 12 71
Ullrich-Turner Syndrome 20 43
Gonadal Dysgenesis 20 71
Turner's Syndrome 74 43
Schereshevkii Turner Syndrome 20
Gonadal Dysgenesis - Turner 12
Bonnevie-Ulrich Syndrome 20
Gonadal Dysgenesis, 45,x 71
Chromosome X Monosomy X 20
Turner Varny Syndrome 20
Monosomy X Syndrome 12
45,x/46,xx Syndrome 58
Turners Syndrome 54
Syndrome, Turner 39
Karyotype 45, X 12
45, X Syndrome 20
45,x Syndrome 58
Xo Syndrome 12
45,x 43
Ts 43

Characteristics:

Orphanet epidemiological data:

58
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:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Reproductive diseases Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Turner Syndrome

About this section
MedlinePlus Genetics : 43 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 45,x/46,xy mixed gonadal dysgenesis and gonadal dysgenesis. 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 Cloxacillin and Cisatracurium have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and t cells, and related phenotypes are short neck and osteopenia

Disease Ontology : 12 A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has material basis in one missing or structurally altered X chromosome.

GARD : 20 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 : 42 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 : 74 Turner syndrome (TS), also known 45,X, or 45,X0, is a genetic condition in which a female is partly or... more...

Sources

Related Diseases for Turner Syndrome

About this section

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 1152)
# Related Disease Score Top Affiliating Genes
1 45,x/46,xy mixed gonadal dysgenesis 32.9 SRY AMH
2 gonadal dysgenesis 32.7 SRY SHBG CGB3 AMH
3 premature menopause 31.7 TPO TG SHBG IGF1 CYP21A2 AMH
4 47,xyy 31.5 SRY IGFBP3
5 gonadoblastoma 31.4 TSPY1 SRY CGB3 AMH
6 chromosomal triplication 31.3 PAPPA CGB3
7 disorder of sexual development 31.1 SHOX SHBG IGF1 CYP21A2 AMH
8 thyroiditis 31.0 TPO TG SERPINA7
9 androgen insensitivity syndrome 30.9 SRY SHBG IGFBP3 AMH
10 complete androgen insensitivity syndrome 30.8 SRY SHBG IGFBP3
11 slipped capital femoral epiphysis 30.8 IGFBP3 IGF1
12 leri-weill dyschondrosteosis 30.8 SRY SHOX2 SHOX
13 glucose intolerance 30.8 SHBG IGFBP1 IGF1 GH1
14 celiac disease 1 30.7 TPO TG IGF1 CYP21A2
15 hyperprolactinemia 30.7 SHBG IGF1 GH1
16 gynecomastia 30.7 SRY SHBG CYP21A2
17 hypopituitarism 30.6 SHBG IGFBP3 IGF1 GHR GH1
18 mechanical strabismus 30.6 TPO TG
19 insulin-like growth factor i 30.6 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
20 mixed gonadal dysgenesis 30.6 SRY CYP21A2 AMH
21 adenoma 30.6 TG IGF1 GH1 CYP21A2
22 hypoglycemia 30.6 IGFBP3 IGFBP1 IGF1 GH1
23 empty sella syndrome 30.5 IGFBP3 IGF1 GH1
24 pre-eclampsia 30.5 PAPPA IGFBP3 IGFBP1 IGF1 CGB3
25 isolated growth hormone deficiency 30.5 IGFBP3 IGF1 GHR GH1
26 osteoporosis 30.5 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
27 hyperinsulinism 30.4 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
28 pituitary hormone deficiency, combined, 2 30.4 IGF1 GHR GH1
29 hypothyroidism 30.4 TPO TG SHBG SERPINA7 IGFBP3 IGF1
30 anorexia nervosa 30.3 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
31 pseudohermaphroditism 30.3 SRY CYP21A2 AMH
32 hashimoto thyroiditis 30.3 TPO TG SERPINA7
33 hermaphroditism 30.3 SRY SHBG AMH
34 secondary adrenal insufficiency 30.3 IGFBP3 IGF1
35 hyperandrogenism 30.2 SHBG IGFBP3 IGFBP1 IGF1 CYP21A2
36 ovarian disease 30.2 SHBG IGFBP1 IGF1 GH1 AMH
37 testicular seminoma 30.2 TSPY1 CGB3
38 central precocious puberty 30.2 IGFBP3 IGF1 GH1
39 goiter 30.2 TPO TG SERPINA7 IGF1
40 hypoadrenocorticism, familial 30.2 TPO TG CYP21A2
41 autoimmune polyendocrine syndrome 30.2 TPO TG CYP21A2
42 silver-russell syndrome 1 30.1 SHOX IGFBP3 IGF1
43 achondroplasia 30.1 SHOX PAPPA IGF1
44 gestational diabetes 30.1 SHBG PAPPA IGFBP1
45 marasmus 30.1 SHBG IGFBP3 IGF1 GH1
46 thyroid gland disease 30.0 TPO TG SHBG SERPINA7 IGF1
47 luteoma 30.0 SHBG CYP21A2
48 acromegaly 30.0 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
49 hyperthyroidism 30.0 TPO TG SHBG SERPINA7 IGF1 GH1
50 prediabetes syndrome 30.0 SHBG IGFBP1 IGF1 GH1

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



Diseases related to Turner Syndrome
Sources

Symptoms & Phenotypes for Turner Syndrome

About this section

Human phenotypes related to Turner Syndrome:

58 31 (show top 50) (show all 119)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000470
2 osteopenia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000938
3 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002750
4 short stature 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
5 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000823
6 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000837
7 short sternum 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000879
8 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000939
9 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001511
10 cubitus valgus 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002967
11 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006610
12 aplasia/hypoplasia of the nipples 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006709
13 premature ovarian insufficiency 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008209
14 female infertility 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008222
15 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008897
16 increased upper to lower segment ratio 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012774
17 high urinary gonadotropin level 31 hallmark (90%) HP:0003492
18 abnormal forearm bone morphology 31 hallmark (90%) HP:0040073
19 kyphosis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002808
20 hypertension 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000822
21 hearing impairment 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
22 genu valgum 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002857
23 retrognathia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000278
24 micrognathia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000347
25 low-set ears 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000369
26 recurrent otitis media 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000403
27 webbed neck 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000465
28 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000474
29 broad neck 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000475
30 anxiety 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000739
31 impaired use of nonverbal behaviors 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000758
32 primary amenorrhea 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000786
33 secondary amenorrhea 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000869
34 hashimoto thyroiditis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000872
35 shield chest 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000914
36 specific learning disability 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001328
37 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001397
38 obesity 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001513
39 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001531
40 hypoplastic toenails 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001800
41 low posterior hairline 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002162
42 high, narrow palate 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002705
43 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002910
44 dermatoglyphic ridges abnormal 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0005689
45 enlargement of the distal femoral epiphysis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006438
46 irregular proximal tibial epiphyses 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006456
47 neck pterygia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0009759
48 short 4th metacarpal 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010044
49 short 5th metacarpal 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010047
50 hypermobility of toe joints 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010510

GenomeRNAi Phenotypes related to Turner Syndrome according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.89 SHOX
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.89 IGFBP1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.89 SHOX
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.89 IGFBP1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-140 9.89 TPO
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-146 9.89 SHOX
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.89 SHOX
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.89 TPO
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.89 SHOX
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.89 IGFBP1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.89 SHBG SHOX
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-24 9.89 SHOX
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-30 9.89 TPO
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 9.89 TPO
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.89 SHOX
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-69 9.89 SHBG
17 Decreased viability GR00106-A-0 9.5 RPS4X
18 Decreased viability GR00240-S-1 9.5 RPS4Y1 TG
19 Decreased viability GR00249-S 9.5 GH1 IGFBP3 RPS4X SHOX2
20 Decreased viability GR00381-A-1 9.5 EFHC2 RPS4X
21 Decreased viability GR00386-A-1 9.5 EFHC2 RPS4X SERPINA7
22 Decreased viability GR00402-S-2 9.5 CGB3 IGFBP3 RPS4X
Sources

Drugs & Therapeutics for Turner Syndrome

About this section

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

(show top 50) (show all 1653)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cloxacillin Approved, Investigational, Vet_approved Phase 4 61-72-3 6098
2
Cisatracurium Approved Phase 4 96946-41-7 62887
3
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
4
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
5
Cyclopentolate Approved Phase 4 512-15-2 2905
6
Ganciclovir Approved, Investigational Phase 4 82410-32-0 3454
7
Zidovudine Approved Phase 4 30516-87-1 35370
8
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
9
Memantine Approved, Investigational Phase 4 19982-08-2 4054
10
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787
11
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
12
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
13
Mycophenolic acid Approved Phase 4 24280-93-1 446541
14
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
15
Scopolamine Approved, Investigational Phase 4 51-34-3, 6533-68-2 5184
16
Lacosamide Approved Phase 4 860352-01-8, 175481-36-4 219078
17
Epirubicin Approved Phase 4 56420-45-2 41867
18
Oseltamivir Approved Phase 4 196618-13-0, 204255-11-8 65028
19
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
20
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
21
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
22
Lactulose Approved Phase 4 4618-18-2 11333
23
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
24
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
25
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
26
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
27
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
28
Abatacept Approved Phase 4 332348-12-6 10237
29
Amphetamine Approved, Illicit, Investigational Phase 4 300-62-9 5826 3007
30
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
31
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
32
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
33
Simvastatin Approved Phase 4 79902-63-9 54454
34
Reteplase Approved, Investigational Phase 4 133652-38-7 65820
35
Methocarbamol Approved, Vet_approved Phase 4 532-03-6 4107
36
Orphenadrine Approved Phase 4 83-98-7 4601
37
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
38
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
39
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
40
Tropisetron Approved, Investigational Phase 4 105826-92-4, 89565-68-4 5595
41
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
42
Simethicone Approved Phase 4 8050-81-5
43
Triclosan Approved, Investigational Phase 4 3380-34-5 5564
44
Methoxyflurane Approved, Investigational, Vet_approved Phase 4 76-38-0 4116
45
Nevirapine Approved Phase 4 129618-40-2 4463
46
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
47
Doxepin Approved, Investigational Phase 4 1668-19-5 667477 667468
48
Cyclizine Approved Phase 4 82-92-8 6726
49
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
50
Frovatriptan Approved, Investigational Phase 4 158747-02-5 77992

Interventional clinical trials:

(show top 50) (show all 9433)
# Name Status NCT ID Phase Drugs
1 Rifampin Combination Therapy Versus Monotherapy in Early Staphylococcal Infections After Total Hip and Knee Arthroplasty Unknown status NCT00423982 Phase 4 Rifampin-combination therapy;Monotherapy
2 Endoesophageal Cryotherapy: A New Technique For Ablating Barrett's Esophagus And Early Stage Esophageal Cancer Unknown status NCT00628784 Phase 4
3 Validation of a Device for Performing Valgus and Varus Stress X-rays of the Knee Unknown status NCT02444663 Phase 4
4 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
5 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
6 Comparison of Paracetamol and Dexketoprofen Trometamol on Headache Treatment After Electroconvulsive Treatment Unknown status NCT03830398 Phase 4 Paracetamol;Deksketoprofen trometamol;Placebo
7 Comparison of the Cellular and the Humoral Immunogenicity as Well as the Safety of Different Trivalent Influenza Vaccines in Healthy Adults Between 18 and 60 Years of Age Unknown status NCT01119157 Phase 4
8 A Randomized Open-labeled Multicenter Study to Assess a New Intracavitary Electrocardiographic Guiding Method for Real-time Positioning the Tip of Three-way Valve Type Peripherally Inserted Central Catheters (PROJECT_EGG) Unknown status NCT02409589 Phase 4
9 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
10 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
11 Phase IV, Prospective, Randomized Study Comparing Preparation the Day Before and Split-dose Regimen With Sodium Picosulphate/Magnesium Citrate for Morning Colonoscopies Unknown status NCT01481714 Phase 4 Sodium picosulphate, magnesium oxid and citric acid;Sodium picosulphate/magnesium oxide and citric acid
12 Endoscopic Treatment of Difficult Bile Duct Stones: Use of Direct Visualization System ("Spyglass Direct Visualization System") Associated With Electrohydraulic Lithotripsy (EHL) X Hydrostatic Balloon Dilation of the Major Duodenal Papilla Unknown status NCT02703077 Phase 4
13 Comparing Body Composition Measurements - Bioelectrical Impedance Analysis and Dual-energy X-ray Absorptiometry - in Chronic Heart Failure Unknown status NCT02686866 Phase 4
14 A Pilot Phase IV Study to Evaluate Variation in Bone Mineral Density, Lean and Fat Body Mass Index Measured by Dual-energy X-ray Absorptiometry in Patients With Prostate Cancer Without Bone Metastasis Treated With Degarelix Unknown status NCT03202381 Phase 4 Degarelix
15 Revision Total Hip Arthroplasty: Comparison of the Effects of Intravenous and Topically Administered Tranexamic Acid in a Prospective Randomized Trial (VITALITY-X) Unknown status NCT02938962 Phase 4 Tranexamic Acid
16 Comparing Treatment Efficacy With High and Medium Dose of Fluticasone in Combination With Salmeterol in COPD Patients Unknown status NCT01131806 Phase 4 fluticasone/ salmeterol 125/25 mcg/puff;fluticasone/ salmeterol 250/25 mcg/puff
17 Comparison of Two Types of Bowel Preparation for Inpatient Colonoscopy Unknown status NCT02119000 Phase 4 PEG/electrolytes 2L/2L split dose;Bisacodyl 15 mg and PEG/electrolytes 1L/1L split dose
18 Naproxen for Acute Pain After Surgery: A Randomized, Placebo-Controlled Trial Unknown status NCT00615875 Phase 4 naproxen;placebo
19 An Investigator-Initiated Study to Assess the Safety and Efficacy of Imiquimod 3.75% Cream When Used After Cryotherapy in the Treatment of Hypertrophic Actinic Keratoses (AK) on Dorsal Hands and Forearms Unknown status NCT01229319 Phase 4 Cryotherapy alone to Left arm plus cryotherapy + imiquimod to Right arm;Cryotherapy alone to Left arm plus cryotherapy + imiquimod to Right arm
20 Clinical and Microbiological Effects of an Essential Oils Solution Used as an Adjunct to Daily Oral Hygiene Practices in Chronic Periodontitis Patients in Supportive Care Unknown status NCT01195493 Phase 4
21 The Lung Attack Alert Study Unknown status NCT01107613 Phase 4
22 Lidocaine Versus Ketorolac for the Management of Renal Colic Unknown status NCT03137498 Phase 4 Lidocaine;Ketorolac
23 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
24 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Unknown status NCT03596957 Phase 4 Tolvaptan
25 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
26 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
27 Long-term Effect of Nasal Continuous Positive Airway Pressure on Lipid Profile in Patients With Dyslipidaemia and Mild-moderate Obstructive Sleep Apnea Unknown status NCT02557412 Phase 4
28 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
29 A New More Efficient Cycloplegia Scheme Unknown status NCT02177539 Phase 4 Cyclopentolate;Cyclopentolate+tropicamide+phenylephrine
30 "ACTIV"Validation of a Paradigm for the Evaluation of Compounds That Activate Mitochondrial Biogenesis in Skeletal Muscle Unknown status NCT00401791 Phase 4
31 A Study on the Anti-proteinuric Effects of Pioglitazone in Patients With Type 2 Diabetes. Unknown status NCT00749047 Phase 4 Pioglitazone
32 Comparison of Two Strategies for Glycemic Control in Acute Ischemic Stroke Unknown status NCT00747279 Phase 4 Intensive insulin therapy
33 Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia Unknown status NCT01554761 Phase 4
34 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
35 A Prospective, Randomised, Open-labeled, Parallel Group Study to Assess the Efficacy and Safety of Low Dose Ticagrelor Compared With Standard Dose Ticagrelor in Patients With Unstable Angina Pectoris After Drug Eluting Stent Implantation Unknown status NCT03620760 Phase 4 Ticagrelor 90 mg;Ticagrelor 45 mg;Aspirin
36 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
37 The Safety and Efficacy of Ledipasvir/Sofosbuvir Fixed-Dose Combination for Treatment of Egyptian Children and Adolescents With Chronic Hepatitis C (HCV)-Genotype 4 Unknown status NCT03743727 Phase 4 Combined therapy LDV and SOF
38 Prostatic Artery Embolization Versus 532 nm Green Light Laser Photoselective Vaporization of the Prostate for Treating Catheter-Dependent Patients With Benign Prostatic Hyperplasia: A Randomized Controlled Clinical Study Unknown status NCT02006303 Phase 4
39 Randomised, Controlled Study Comparing Chemotherapy Plus Intercalated EGFR-Tyrosine Kinase Inhibitors Combination Therapy With EGFR-Tyrosine Kinase Inhibitors Alone Therapy as First-line Treatment for Patients With Non-Small-Cell Lung Cancer Unknown status NCT02031601 Phase 4 Erlotinib;Gefitinib;Icotinib;Docetaxel;Pemetrexed;Platinum (cisplatin or carboplatin);Erlotinib;Gefitinib;Icotinib
40 Effectiveness Comparison Between the Use of Skin Micro-grafts vs Meshed Split Thickness Skin Grafts in Cutaneous Defects: A Randomized Controlled Clinical Trial Unknown status NCT02813213 Phase 4
41 The Treatment of Periodontal Diseases. A Randomized, Blinded, Five Years Follow-up, Four-arm, Placebo Controlled Clinical Intervention Trial Unknown status NCT01318928 Phase 4 Metronidazol
42 Randomized Study on SCS for the Treatment of Refractory Angina Pectoris Unknown status NCT00121654 Phase 4
43 Efficacy of Reverse Phototherapy With Super Light-emitting Diode(Super-led) in Term and Late Preterm Infants:Randomized and Controlled Clinical Trial Unknown status NCT01340339 Phase 4
44 Vitamin D Augmentation of Tekturna (Aliskiren) in Hypertension (VDATH) Unknown status NCT01472796 Phase 4 Tekturna(Aliskiren) plus placebo
45 A 12-week Study to Compare the Effects of Vildagliptin Versus Glibenclamide on Glycemic Variability After a Sub Maximal Exercise Test in Patients With Type 2 Diabetes Inadequately Controlled With Metformin. Unknown status NCT01867502 Phase 4 MET + Vildagliptin Group;MET + Glibenclamide Group
46 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®
47 Estrogen Dosing in Turner Syndrome:Pharmacology & Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
48 Collaborative Study to Assess the Effects of Treatment With Recombinant Growth Hormone Saizen® in the Prevention of Short Stature in Young Girls Suffering From Turner Syndrome Before the Age of 4 Years. Original French Title: Etude Collaborative Pour apprécier Les Effets du Traitement Par l'Hormone de Croissance Recombinante SAIZEN® Dans le Retard de Croissance de la Fillette Atteinte de Syndrome de Turner Avant l'âge de 4 Ans Completed NCT01066052 Phase 4 r-hGH
49 Dose Response Trial of Biosynthetic Authentic Human Growth Hormone and Induction of Puberty With 17b Oestradiol in Girls With Turner's Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
50 Effect of Early Growth Hormone Treatment on Long-term Growth and Skeletal Maturation in Girls With Turner Syndrome Completed NCT00266656 Phase 4 Humatrope

Search NIH Clinical Center for Turner Syndrome

Cochrane evidence based reviews: turner syndrome

Sources

Genetic Tests for Turner Syndrome

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Genetic tests related to Turner Syndrome:

# Genetic test Affiliating Genes
1 Turner Syndrome 29
Sources

Anatomical Context for Turner Syndrome

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MalaCards organs/tissues related to Turner Syndrome:

40
Bone, Prostate, T Cells, Liver, Breast, Skin, Bone Marrow
Sources

Publications for Turner Syndrome

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Articles related to Turner Syndrome:

(show top 50) (show all 4425)
# Title Authors PMID Year
1
TRANSITION-RELATED DISCUSSIONS AMONG ADOLESCENT FEMALES WITH TURNER SYNDROME: CURRENT PRACTICES AND ASSOCIATED FACTORS. 42 61
33475502 2021
2
Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations. 61 42
33456614 2020
3
Orthodontic treatment and aesthetic rehabilitation in a patient with Turner syndrome: A case report. 61 42
33448461 2020
4
Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia. 54 61
19850687 2009
5
Leg length, proportion, health and beauty: a review. 54 61
20440962 2009
6
Association of the exon 3 deleted/full-length GHR polymorphism with recombinant growth hormone dose in growth hormone-deficient adults. 61 54
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. 61 54
19016538 2009
8
Homozygous female Becker muscular dystrophy. 54 61
19396825 2009
9
Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment. 54 61
19407498 2009
10
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. 61 54
19188812 2009
11
Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences. 54 61
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. 54 61
19153504 2009
13
Analysis of the SRY gene in a girl with 45,X/46,XY genotype. 61 54
19852431 2009
14
First-trimester uterine artery Doppler and serum pregnancy-associated plasma protein-a in preeclampsia and chromosomal defects. 61 54
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. 54 61
19031473 2009
16
Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome. 54 61
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. 61 54
17973940 2008
18
Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome. 61 54
19030103 2008
19
IGF-I, IGFBP-3 and ALS generation test in Turner syndrome. 61 54
17540594 2007
20
SHOX at a glance: from gene to protein. 54 61
17922307 2007
21
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. 61 54
17182655 2007
22
The Human Pseudoautosomal Region (PAR): Origin, Function and Future. 54 61
18660847 2007
23
Future directions: growth prediction models. 54 61
18174708 2007
24
The development of mental state attributions in women with X-monosomy, and the role of monoamine oxidase B in the sociocognitive phenotype. 61 54
16412409 2007
25
Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature. 61 54
17028440 2007
26
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. 61 54
17047016 2007
27
Effects of growth hormone on growth, insulin resistance and related hormones (ghrelin, leptin and adiponectin) in Turner syndrome. 54 61
17204837 2007
28
The multiple indications for growth hormone treatment of pediatric patients. 54 61
17236440 2006
29
The GH-IGF-IGFBP axis is changed in Turner syndrome: partial normalization by HRT. 54 61
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. 61 54
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. 54 61
16908209 2006
32
Short stature and dysmorphology associated with defects in the SHOX gene. 54 61
16807223 2006
33
Prevalence of autoantibodies associated with thyroid and celiac disease in Ullrich-Turner syndrome in relation to adult height after growth hormone treatment. 54 61
16562588 2006
34
The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children. 54 61
16291706 2006
35
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. 61 54
16227037 2005
36
Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. 61 54
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. 61 54
15687343 2005
38
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome. 54 61
16052861 2005
39
The IGF system in childhood: physiology and clinical implications. 61 54
16114274 2005
40
Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. 61 54
15223166 2004
41
Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome. 54 61
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). 61 54
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. 54 61
12415026 2002
44
The human SHOX mutation database. 54 61
12402330 2002
45
Molecular detection of XO - Turner syndrome. 61 54
14963834 2002
46
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. 61 54
11889216 2002
47
SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. 54 61
11889214 2002
48
Fertility, sex determination, and the X chromosome. 61 54
12900568 2002
49
Short-term growth in children with growth disorders. 54 61
11822486 2002
50
Phenotypes Associated with SHOX Deficiency. 54 61
11739418 2001
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Variations for Turner Syndrome

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Copy number variations for Turner Syndrome from CNVD:

7
# CNVD ID Chromosome 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
Sources

Expression for Turner Syndrome

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Search GEO for disease gene expression data for Turner Syndrome.
Sources

Pathways for Turner Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Endochondral Ossification 1
11.14 IGF1 GHR GH1
2
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 65
10.25 PAPPA IGFBP3 IGFBP1 IGF1
3
Thyroxine (Thyroid Hormone) Production 1
9.73 TPO TG
Sources

GO Terms for Turner Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 TG SHBG SERPINA7 PAPPA IGFBP3 IGFBP1
2 extracellular space GO:0005615 9.36 TPO TG SERPINA7 PAPPA IGFBP3 IGFBP1
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 9.16 GHR GH1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.71 PAPPA IGFBP3 IGFBP1 IGF1
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.65 IGF1 GHR GH1
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.54 IGF1 GHR GH1
4 thyroid hormone generation GO:0006590 9.52 TPO TG
5 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.51 GHR GH1
6 insulin-like growth factor receptor signaling pathway GO:0048009 9.49 IGF1 GHR
7 growth hormone receptor signaling pathway GO:0060396 9.46 GHR GH1
8 hormone biosynthetic process GO:0042446 9.43 TPO TG
9 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.32 IGFBP3 IGFBP1
10 gonadal mesoderm development GO:0007506 9.26 TSPY1 AMH
11 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.16 SHOX2 GHR
12 sex differentiation GO:0007548 9.13 TSPY1 SRY AMH
13 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 I binding GO:0031994 9.26 IGFBP3 IGFBP1
2 insulin-like growth factor II binding GO:0031995 9.16 IGFBP3 IGFBP1
3 growth factor binding GO:0019838 9.13 IGFBP3 IGFBP1 GHR
4 hormone activity GO:0005179 9.02 TG IGF1 GH1 CGB3 AMH
Sources

Sources for Turner Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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