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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 52 25 58 29 42 43 15 71 32
Monosomy X 12 74 25 58 71
Gonadal Dysgenesis Turner Type 74 52
Bonnevie-Ullrich Syndrome 12 71
Ullrich-Turner Syndrome 52 25
Gonadal Dysgenesis 52 71
Turner's Syndrome 74 25
Schereshevkii Turner Syndrome 52
Gonadal Dysgenesis - Turner 12
Bonnevie-Ulrich Syndrome 52
Gonadal Dysgenesis, 45,x 71
Chromosome X Monosomy X 52
Turner Varny Syndrome 52
Monosomy X Syndrome 12
45,x/46,xx Syndrome 58
Turners Syndrome 54
Syndrome, Turner 39
Karyotype 45, X 12
45, X Syndrome 52
45,x Syndrome 58
Xo Syndrome 12
45,x 25
Ts 25

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
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 45,x/46,xy mixed 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 Heparin and Cloxacillin have been mentioned in the context of this disorder. Affiliated tissues include lung, breast and bone, and related phenotypes are delayed skeletal maturation and short neck

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.

NIH Rare Diseases : 52 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 1208)
# Related Disease Score Top Affiliating Genes
1 45,x/46,xy mixed gonadal dysgenesis 34.8 SRY AMH
2 premature ovarian failure 1 33.3 TPO SHOX SHBG IGFBP3 IGF1 AMH
3 gonadal dysgenesis 33.2 SRY SHOX SHBG CGB3 AMH
4 47,xyy 31.7 SRY IGFBP3
5 chromosomal triplication 31.4 PAPPA CGB3
6 gonadoblastoma 31.4 TSPY1 SRY CGB3 AMH
7 androgen insensitivity syndrome 31.3 SRY SHBG AMH
8 thyroiditis 31.3 TPO TG SERPINA7
9 complete androgen insensitivity syndrome 31.1 SRY SHBG IGFBP3
10 leri-weill dyschondrosteosis 31.0 SRY SHOX2 SHOX
11 slipped capital femoral epiphysis 30.9 IGFBP3 IGF1
12 hyperprolactinemia 30.9 SHBG IGF1 GH1
13 mechanical strabismus 30.8 TPO TG
14 celiac disease 1 30.8 TPO TG IGF1 CYP21A2
15 glucose intolerance 30.8 SHBG IGFBP3 IGFBP1 IGF1 GH1
16 adenoma 30.8 TG IGF1 GH1 CYP21A2
17 isolated growth hormone deficiency 30.7 IGF1 GHR GH1
18 empty sella syndrome 30.7 IGFBP3 IGF1 GH1
19 insulin-like growth factor i 30.7 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
20 hypopituitarism 30.6 SHBG IGFBP3 IGF1 GHR GH1
21 hypoglycemia 30.6 IGFBP3 IGFBP1 IGF1 GHR GH1
22 mixed gonadal dysgenesis 30.5 SRY CYP21A2 AMH
23 osteoporosis 30.5 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
24 lipoid congenital adrenal hyperplasia 30.5 SHBG CYP21A2 AMH
25 pituitary hormone deficiency, combined, 2 30.5 IGF1 GHR GH1
26 hypothyroidism 30.5 TPO TG SHBG SERPINA7 IGFBP3 IGF1
27 hyperinsulinism 30.5 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
28 gynecomastia 30.4 SRY SHBG CYP21A2
29 pre-eclampsia 30.4 PAPPA IGFBP3 IGFBP1 IGF1 CGB3
30 secondary adrenal insufficiency 30.4 IGFBP3 IGF1
31 anorexia nervosa 30.4 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
32 hermaphroditism 30.4 SRY SHBG AMH
33 chromosomal disease 30.4 SHOX PAPPA IGF1
34 hypoadrenocorticism, familial 30.3 TPO TG CYP21A2
35 central precocious puberty 30.3 IGF1 GH1
36 autoimmune polyendocrine syndrome 30.3 TPO TG CYP21A2
37 pseudohermaphroditism 30.3 SRY CYP21A2 AMH
38 acid-labile subunit deficiency 30.3 IGFBP3 IGF1 GH1
39 testicular seminoma 30.3 TSPY1 CGB3
40 thyroid gland disease 30.2 TPO TG SHBG SERPINA7 IGF1
41 ovarian disease 30.2 SHBG IGFBP1 IGF1 GH1 AMH
42 premature menopause 30.2 TPO TG AMH
43 hyperthyroidism 30.2 TPO TG SHBG SERPINA7 IGF1 GH1
44 silver-russell syndrome 1 30.2 SHOX IGFBP3 IGF1
45 gestational diabetes 30.2 SHBG PAPPA IGFBP1 IGF1
46 goiter 30.2 TPO TG SHBG SERPINA7 IGF1
47 marasmus 30.2 SHBG IGFBP3 IGF1 GH1
48 achondroplasia 30.2 SHOX PAPPA IGF1
49 graves disease 1 30.1 TPO TG SHBG SERPINA7
50 hyperandrogenism 30.1 SHBG IGFBP3 IGFBP1 IGF1 GH1 CYP21A2

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 120)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002750
2 short neck 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000470
3 short stature 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
4 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000823
5 abnormality of the ovary 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000137
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 osteopenia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000938
9 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000939
10 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001511
11 cubitus valgus 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002967
12 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006610
13 aplasia/hypoplasia of the nipples 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006709
14 premature ovarian insufficiency 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008209
15 female infertility 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008222
16 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008897
17 increased upper to lower segment ratio 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012774
18 high urinary gonadotropin level 31 hallmark (90%) HP:0003492
19 abnormal forearm bone morphology 31 hallmark (90%) HP:0040073
20 hearing impairment 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
21 kyphosis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002808
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 hypertension 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000822
34 secondary amenorrhea 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000869
35 hashimoto thyroiditis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000872
36 shield chest 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000914
37 specific learning disability 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001328
38 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001397
39 obesity 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001513
40 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001531
41 hypoplastic toenails 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001800
42 low posterior hairline 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002162
43 high, narrow palate 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002705
44 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002910
45 dermatoglyphic ridges abnormal 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0005689
46 enlargement of the distal femoral epiphysis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006438
47 irregular proximal tibial epiphyses 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006456
48 neck pterygia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0009759
49 short 4th metacarpal 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010044
50 short 5th metacarpal 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010047

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 1692)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
2
Cloxacillin Approved, Investigational, Vet_approved Phase 4 61-72-3 6098
3
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
4
Fesoterodine Approved Phase 4 286930-02-7, 286930-03-8 6918558
5
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
6
Glimepiride Approved Phase 4 93479-97-1 3476
7
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
8
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
9
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
10
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 9865442 444025
11
Chlorpromazine Approved, Investigational, Vet_approved Phase 4 50-53-3 2726
12
Dipivefrin Approved Phase 4 52365-63-6 3105
13
Ritodrine Approved, Investigational Phase 4 26652-09-5 33572
14
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
15
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
16
Polyestradiol phosphate Approved Phase 4 28014-46-2
17
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
18
Cetrorelix Approved, Investigational Phase 4 120287-85-6 16129715 25074887
19
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
20
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
21
Bisacodyl Approved Phase 4 603-50-9
22
Lactulose Approved Phase 4 4618-18-2 11333
23
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
24
Capsaicin Approved Phase 4 404-86-4 1548943
25
Primaquine Approved Phase 4 90-34-6 4908
26
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
27
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
28
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787
29
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
30
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
31
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
32
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
33
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
34
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 11953898
35
Lacosamide Approved Phase 4 175481-36-4, 860352-01-8 219078
36
Ibutilide Approved Phase 4 122647-32-9, 122647-31-8 60753
37
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
38
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
39
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
40
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
41
Adalimumab Approved Phase 4 331731-18-1 16219006
42
Citalopram Approved Phase 4 59729-33-8 2771
43
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
44
Timolol Approved Phase 4 26839-75-8 5478 33624
45
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
46
Hydrogen peroxide Approved, Vet_approved Phase 4 7722-84-1 784
47
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
48
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
49
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
50
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029

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 Topiramate Augmentation to a Selective Serotonin Re-uptake Inhibitor (SSRI) in Treatment-Resistant Generalized Social Phobia: A Double-Blind Placebo -Controlled Trial. Unknown status NCT00182455 Phase 4 Topiramate;Placebo
14 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)
15 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
16 Efficacy of Calcium Silicate Pulp-capping; a Randomized Controlled Clinical Trial Unknown status NCT02201641 Phase 4
17 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
18 PET/CT and Roentgen in Lung Cancer. Evaluation of Patients in General Practice Unknown status NCT00675168 Phase 4
19 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
20 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
21 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
22 Identifying Predictors of Response in 12 Weeks of Treatment With Antipsychotics Using a Treatment Algorithm for Schizophrenia Unknown status NCT01016145 Phase 4 Antipsychotics;Antipsychotics
23 Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia Unknown status NCT01554761 Phase 4
24 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
25 Comparative Immunogenicity Study of Two Live Attenuated Hepatitis A Vaccines Unknown status NCT03231605 Phase 4
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 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)
29 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
30 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
31 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
32 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
33 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
34 Naproxen for Acute Pain After Surgery: A Randomized, Placebo-Controlled Trial Unknown status NCT00615875 Phase 4 naproxen;placebo
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 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
37 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
38 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
39 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
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 A Pilot Study of Memantine for Cognitive and Behavioral Dysfunction in Huntington's Disease" Unknown status NCT00652457 Phase 4 Memantine
42 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®
43 Efficacy and Safety of a Covered Self-expandable Dual-layered Metallic Mesh Stent (UVENTAâ„¢) in Ureteral Obstruction: Prospective, Multi-center, Open Label Study Unknown status NCT01788865 Phase 4
44 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
45 An Exploratory Randomized Open Comparison of Oxtellar XR® vs Oxcarbazepine IR (Trileptal®) for the Treatment of Bipolar Depression Unknown status NCT03567681 Phase 4 Extended release oxcarbazepine vs Immediate release oxcarbazepine
46 Effectiveness of Trapeziometacarpal Splint Unknown status NCT02635932 Phase 4
47 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
48 Comparison of Two Strategies for Glycemic Control in Acute Ischemic Stroke Unknown status NCT00747279 Phase 4 Intensive insulin therapy
49 Intensity of Exercise and Glucose Metabolism Unknown status NCT01649219 Phase 4
50 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

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

Publications for Turner Syndrome

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Articles related to Turner Syndrome:

(show top 50) (show all 4293)
# Title Authors PMID Year
1
Clinical case report: A case of Turner syndrome with Graves' disease. 42 61
32176101 2020
2
A short ring finger points to a diagnosis of Turner syndrome again. 42 61
32171415 2020
3
Turner Syndrome Systematic Review: Spontaneous Thelarche and Menarche Stratified by Karyotype. 61 42
31918426 2019
4
Leg length, proportion, health and beauty: a review. 61 54
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. 61 54
19850687 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. 61 54
19407498 2009
10
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. 61 54
19188812 2009
11
Analysis of the SRY gene in a girl with 45,X/46,XY genotype. 54 61
19852431 2009
12
First-trimester uterine artery Doppler and serum pregnancy-associated plasma protein-a in preeclampsia and chromosomal defects. 61 54
19776597 2009
13
Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation. 61 54
19031473 2009
14
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. 61 54
19153504 2009
15
Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences. 61 54
19506392 2009
16
Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome. 61 54
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. 54 61
17973940 2008
18
Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome. 54 61
19030103 2008
19
SHOX at a glance: from gene to protein. 54 61
17922307 2007
20
IGF-I, IGFBP-3 and ALS generation test in Turner syndrome. 61 54
17540594 2007
21
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. 54 61
17182655 2007
22
The Human Pseudoautosomal Region (PAR): Origin, Function and Future. 61 54
18660847 2007
23
The development of mental state attributions in women with X-monosomy, and the role of monoamine oxidase B in the sociocognitive phenotype. 54 61
16412409 2007
24
Effects of growth hormone on growth, insulin resistance and related hormones (ghrelin, leptin and adiponectin) in Turner syndrome. 61 54
17204837 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. 54 61
17047016 2007
27
Future directions: growth prediction models. 54 61
18174708 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. 61 54
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. 54 61
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. 61 54
16908209 2006
32
Short stature and dysmorphology associated with defects in the SHOX gene. 61 54
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. 54 61
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. 61 54
16562588 2006
35
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. 54 61
16227037 2005
36
Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. 54 61
15931595 2005
37
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome. 61 54
16052861 2005
38
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. 54 61
15687343 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
The human SHOX mutation database. 61 54
12402330 2002
44
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
45
Molecular detection of XO - Turner syndrome. 54 61
14963834 2002
46
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. 54 61
11889216 2002
47
SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. 61 54
11889214 2002
48
Short-term growth in children with growth disorders. 54 61
11822486 2002
49
Fertility, sex determination, and the X chromosome. 61 54
12900568 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
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
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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