TS
MCID: TRN020
MIFTS: 70

Turner Syndrome (TS)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Turner Syndrome

MalaCards integrated aliases for Turner Syndrome:

Name: Turner Syndrome 11 19 19 42 58 75 28 5 41 43 14 71 31 33
Monosomy X 11 42 58 75 28 71 33
Ullrich-Turner Syndrome 19 42 33
Gonadal Dysgenesis Turner Type 19 75
Bonnevie-Ullrich Syndrome 11 71
Gonadal Dysgenesis 19 71
Turner's Syndrome 42 75
Karyotype 45, X 11 33
45,x 42 75
Genital Dwarfism, Turner Type 19
Schereshevkii Turner Syndrome 19
Gonadal Dysgenesis - Turner 11
Bonnevie-Ulrich Syndrome 19
Gonadal Dysgenesis, 45,x 71
Chromosome X Monosomy X 19
Turner Varny Syndrome 19
Monosomy X Syndrome 11
45,x/46,xx Syndrome 58
Genital Dwarfism 19
Turners Syndrome 53
45, X Syndrome 19
45,x Syndrome 58
Xo Syndrome 11
X0 Syndrome 33
Ts 42

Characteristics:


Prevelance:

1-9/100000 (Europe, Austria, Belgium, Croatia, France, Germany, Hungary, Ireland, Italy, Malta, Norway, Poland, Portugal, Spain, Ukraine) 1-5/10000 (Bulgaria, Denmark, Netherlands, Switzerland, United Kingdom, Singapore) 58

Age Of Onset:

Antenatal,Childhood,Infancy,Neonatal 58

Age Of Death:

adult,elderly 58

Classifications:

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


Summaries for Turner Syndrome

MedlinePlus Genetics: 42 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 noonan syndrome 1. An important gene associated with Turner Syndrome is SHOX (Short Stature Homeobox), and among its related pathways/superpathways are Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and Endochondral ossification. The drugs Propofol and Cilostazol have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and kidney, and related phenotypes are short neck and osteopenia

GARD: 19 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.

MedlinePlus: 41 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

Orphanet: 58 A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities.

Disease Ontology: 11 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.

Wikipedia: 75 Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is... 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 1411)
# Related Disease Score Top Affiliating Genes
1 45,x/46,xy mixed gonadal dysgenesis 33.0 SRY AMH
2 noonan syndrome 1 32.7 SHOX IGFBP3 IGF1 GHR GH1
3 gonadal dysgenesis 32.1 SRY SHOX SHBG CGB3 AMH
4 premature menopause 31.7 TPO TG SHBG IGF1 CYP21A2 AMH
5 chromosomal triplication 31.4 PAPPA CGB3
6 gonadoblastoma 31.4 TSPY1 SRY CGB3 AMH
7 prediabetes syndrome 31.0 SHBG IGFBP3 IGFBP1 IGF1 GH1
8 thyroiditis 30.9 TPO TG SERPINA7
9 precocious puberty 30.9 GH1 CYP21A2
10 disorder of sexual development 30.9 SRY SHOX SHBG IGFBP3 IGFBP1 IGF1
11 hypopituitarism 30.9 SHBG IGFBP3 IGF1 GHR GH1
12 leri-weill dyschondrosteosis 30.9 SRY SHOX2 SHOX
13 celiac disease 1 30.9 TPO TG IGF1 CYP21A2
14 glucose intolerance 30.8 SHBG IGFBP1 IGF1 GH1
15 empty sella syndrome 30.8 IGFBP3 IGF1 GH1
16 insulin-like growth factor i 30.7 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
17 chromosomal disease 30.7 SHOX PAPPA IGF1
18 complete androgen insensitivity syndrome 30.7 SRY SHBG AMH
19 hyperprolactinemia 30.7 SHBG IGF1 GH1
20 hashimoto thyroiditis 30.7 TPO TG SERPINA7
21 hypogonadotropic hypogonadism 30.6 SHOX SHBG IGF1 CYP21A2 AMH
22 gender incongruence 30.6 SHBG CYP21A2 AMH
23 shox-related short stature 30.6 SHOX2 SHOX
24 hypothyroidism 30.5 TPO TG SHBG SERPINA7 IGFBP3 IGF1
25 graves disease 1 30.5 TPO TG SHBG SERPINA7
26 hypoglycemia 30.5 IGFBP3 IGFBP1 IGF1 GHR GH1
27 pre-eclampsia 30.5 SHBG PAPPA IGFBP3 IGFBP1 IGF1 CGB3
28 hyperinsulinism 30.5 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
29 lipoid congenital adrenal hyperplasia 30.5 SRY SHBG IGF1 CYP21A2 AMH
30 mixed gonadal dysgenesis 30.5 SRY SHOX CYP21A2 AMH
31 osteoporosis 30.4 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
32 anorexia nervosa 30.4 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
33 pituitary hormone deficiency, combined, 2 30.4 IGF1 GHR GH1
34 skin tag 30.4 SHBG IGFBP3 IGF1
35 pseudohermaphroditism 30.3 SRY CYP21A2 AMH
36 infertility 30.3 TPO SHBG IGFBP1 CYP21A2 CGB3 AMH
37 acromegaly 30.3 SHBG IGFBP3 IGFBP1 IGF1 GHR GH1
38 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 30.2 SHOX AMH
39 type 1 diabetes mellitus 30.2 TPO TG IGFBP3 IGFBP1 IGF1 GHR
40 ovarian disease 30.2 SHBG IGFBP1 IGF1 AMH
41 gestational diabetes 30.2 SHBG PAPPA IGFBP1 IGF1 GHR
42 type 2 diabetes mellitus 30.2 TPO SHBG IGFBP3 IGFBP1 IGF1 GHR
43 ovarian germ cell cancer 30.2 TG AMH
44 marasmus 30.2 IGFBP3 IGF1 GH1
45 prolactinoma 30.2 SHBG IGF1 GH1
46 pituitary adenoma 1, multiple types 30.2 IGFBP3 IGF1 GH1
47 renal osteodystrophy 30.2 IGFBP3 IGFBP1 IGF1
48 silver-russell syndrome 1 30.1 SHOX IGFBP3 IGF1
49 hypoadrenocorticism, familial 30.1 TPO TG CYP21A2
50 hypothalamic disease 30.1 IGF1 GH1

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:

58 30 (show top 50) (show all 121)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000470
2 osteopenia 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000938
3 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002750
4 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0004322
5 delayed puberty 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000823
6 abnormality of the ovary 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000137
7 increased circulating gonadotropin level 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000837
8 short sternum 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000879
9 osteoporosis 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000939
10 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001511
11 cubitus valgus 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002967
12 wide intermamillary distance 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0006610
13 aplasia/hypoplasia of the nipples 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0006709
14 premature ovarian insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0008209
15 female infertility 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0008222
16 postnatal growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0008897
17 increased upper to lower segment ratio 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0012774
18 abnormal forearm bone morphology 30 Hallmark (90%) HP:0040072
19 high urinary gonadotropin level 30 Hallmark (90%) HP:0003492
20 kyphosis 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002808
21 hypertension 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000822
22 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000365
23 genu valgum 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002857
24 retrognathia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000278
25 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000347
26 low-set ears 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000369
27 recurrent otitis media 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000403
28 webbed neck 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000465
29 thickened nuchal skin fold 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000474
30 broad neck 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000475
31 anxiety 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000739
32 primary amenorrhea 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000786
33 secondary amenorrhea 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000869
34 hashimoto thyroiditis 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000872
35 shield chest 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000914
36 specific learning disability 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001328
37 hepatic steatosis 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001397
38 obesity 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001513
39 failure to thrive in infancy 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001531
40 hypoplastic toenails 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001800
41 low posterior hairline 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002162
42 high, narrow palate 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002705
43 elevated hepatic transaminase 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002910
44 dermatoglyphic ridges abnormal 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0005689
45 enlargement of the distal femoral epiphysis 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0006438
46 irregular proximal tibial epiphyses 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0006456
47 neck pterygia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0009759
48 short 4th metacarpal 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0010044
49 short 5th metacarpal 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0010047
50 hypermobility of toe joints 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0010510

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

25 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 AMH CGB3 CYP21A2 EFHC2 GH1 GHR
2 no effect GR00402-S-2 10.19 AMH CYP21A2 EFHC2 GH1 GHR IGF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.89 IGFBP1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.89 SHOX
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.89 SHOX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.89 IGFBP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.89 IGFBP1 SHBG SHOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.89 TPO
9 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.89 IGFBP1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-175 9.89 TPO
11 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.89 SHBG
12 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.89 SHBG
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.89 SHOX
14 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.89 SHBG
15 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.89 SHBG
16 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.89 TPO
17 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.89 IGFBP1

MGI Mouse Phenotypes related to Turner Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.5 GHR IGF1 IGFBP3 PAPPA SHOX2 TG
2 endocrine/exocrine gland MP:0005379 9.32 AMH CGB3 GH1 GHR IGF1 IGFBP3

Drugs & Therapeutics for Turner Syndrome

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

(show top 50) (show all 802)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
3
Tranexamic acid Approved Phase 4 1197-18-8 5526
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
5
Polyestradiol phosphate Approved Phase 4 28014-46-2
6
Ethinylestradiol Approved Phase 4 57-63-6 5991
7
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
8
Budesonide Approved Phase 4 51333-22-3 5281004 40000 63006
9
Fluticasone Approved, Experimental Phase 4 90566-53-3 4659387 5311101
10
Acetaminophen Approved Phase 4 103-90-2 1983
11
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
12
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
13
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
14
Mycophenolic acid Approved, Investigational Phase 4 24280-93-1 446541
15
Goserelin Approved Phase 4 65807-02-5 5311128 47725
16
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
17
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
18
Atorvastatin Approved Phase 4 134523-00-5 60823
19
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
20
Fenofibrate Approved Phase 4 49562-28-9 3339
21
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
22
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
23
Racivir Approved, Investigational Phase 4 143491-57-0, 143491-54-7 60877
24
Rilpivirine Approved Phase 4 500287-72-9 6451164
25
Dolutegravir Approved Phase 4 1051375-16-6 57414794 54726191
26
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
27
Ziprasidone Approved Phase 4 146939-27-7 60854
28
Olanzapine Approved, Investigational Phase 4 132539-06-1 135398745 4585
29
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
30
Amlodipine Approved Phase 4 88150-42-9 2162
31
Nifedipine Approved Phase 4 21829-25-4 4485
32
Plasminogen Approved Phase 4 9001-91-6
33
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
34
Nitric Oxide Approved Phase 4 10102-43-9 145068
35
Phylloquinone Approved, Investigational Phase 4 572-96-3, 84-80-0 5280585 5284607
36
Thrombin Approved, Investigational Phase 4
37
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643
38
Tiotropium Approved Phase 4 136310-93-5, 186691-13-4 3086655 5487427 5487426
39
Apixaban Approved Phase 4 503612-47-3 10182969
40
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
41
Clarithromycin Approved Phase 4 81103-11-9 84029
42
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
43
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
44
Moxifloxacin Approved, Investigational Phase 4 186826-86-8, 354812-41-2, 151096-09-2 152946
45
Rifampicin Approved Phase 4 13292-46-1 135512673 5381226 135900090
46
Ticagrelor Approved Phase 4 274693-27-5 9871419
47
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
48
Isoniazid Approved, Investigational Phase 4 54-85-3 3767
49
Clavulanic acid Approved, Vet_approved Phase 4 58001-44-8 5280980
50
Azithromycin Approved Phase 4 83905-01-5 447043

Interventional clinical trials:

(show top 50) (show all 1584)
# Name Status NCT ID Phase Drugs
1 Target-controlled Infusion With Propofol in the Emergency Department : a Prospective Study on 45 Adult Patients Unknown status NCT03783494 Phase 4 Target control infusion with propofol
2 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness in Type 2 Diabetes Patient With Metabolic Syndrome (Randomized, Double-Blind, Placebo-Controled, Cross-Over Study) Unknown status NCT00573950 Phase 4 cilostazol;Placebo
3 12-months of Treatment With Burosumab in Children and Adolescents With X-linked Hypophosphatemia: a Prospective Longitudinal Cohort Study Unknown status NCT04419363 Phase 4 Burosumab Injection
4 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
5 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
6 Comparing Body Composition Measurements - Bioelectrical Impedance Analysis and Dual-energy X-ray Absorptiometry - in Chronic Heart Failure Unknown status NCT02686866 Phase 4
7 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
8 Growth Response in Girls With Turner Syndrome During a Three-year GH Treatment Comparing Two Dose Regimens. Identification of Predictive Factors of Growth Response Completed NCT01734486 Phase 4 somatropin
9 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
10 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
11 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen
12 The Growth of Genitalia Interna and the Bone Mineralization Under Hormonal Replacement Therapy and the Presence of Aortic Root Dilatation in Girls With Turner Syndrome Completed NCT00134745 Phase 4 estradiol
13 Effect of Early Growth Hormone Treatment on Long-term Growth and Skeletal Maturation in Girls With Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
14 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;oestrogen
15 Assessment of the Ease of Use of Norditropin NordiFlex® Relative to the One of the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
16 A Multi-center, Open, Single-arm, Switch-over, Prospective, Phase IV Study to Assess the Ease of Use, Preference, and Safety After 8 Weeks Subcutaneous Administration of EutropinPen Inj. in Patients Pretreated With Recombinant Human Growth Hormone by Reusable Device Completed NCT03015909 Phase 4 Somatropin
17 Estrogen Dosing in Turner Syndrome:Pharmacology & Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
18 Short Term Cardiovascular and Renal Effects of Moringa Oleifera Extracts and Stevia Rebaudiana Bertoni as add-on Therapy in a Population of Type II Diabetes Individuals Completed NCT04254029 Phase 4
19 A Repeat-dose, Open-label, Randomized, Incomplete Block Design in Pediatric Subjects With Asthma, Ages 4 - 11 Years, to Compare Systemic Exposure and Pharmacodynamics of Fluticasone Propionate and Salmeterol Following Advair HFA 45/21mcg (2 Inhalations), ADVAIR® HFA 45/21mcg (2 Inhalations) With Aerochamber Plus Spacer and Advair Diskus 100/50 Twice Daily Completed NCT00400608 Phase 4 ADVAIR HFA;ADVAIR DISKUS
20 A Randomized, Double-blind, Double-dummy, Single-dose, Parallel Group, Multicenter Study to Compare the Antipyretic Efficacy of Acetylsalicy-lic Acid 500 mg and 1,000 mg (2 x 500 mg) and Paracetamol 500 mg and 1,000 mg (2 x 500 mg) With Placebo in Patients With Acute Febrile Upper Respiratory Tract Infections Suspected to be of Viral Origin. Completed NCT01464944 Phase 4 Acetylsalicylic acid (Aspirin, BAYE4465);Paracetamol;Placebo
21 An Open-label, Randomised, Multi-centre Cross-over Trial in Diabetes Patients Evaluating Preference, Injection Pressure, Pain Perception and Handling When Injections Are Performed With Two Different Needles i.e. NovoFine® 32 Gauge Tip x 6mm and NovoFine® 30 Gauge x 8mm Using a FlexPen® Disposable Insulin Injection Pen Completed NCT00569426 Phase 4
22 Comparison of Glycemic Control Achieved With a 31 Gauge x 6 mm NovoFine® Needle vs. a BD 29 Gauge x 12.7 mm Ultra-Fine® Needle in Subjects With Diabetes Mellitus and a BMI Exceeding 30 kg/m2: An Open Label, Randomized, Two-Period Crossover Study Completed NCT00572052 Phase 4
23 A 12-wk, Rand., Double-blind, Double Dummy, Multi-ctr., Phase IV Study Comparing Efficacy and Safety of SYMBICORT® pMDI 160/4.5 ug x 2 Actuations Twice Daily Versus Pulmicort® (Budesonide Inhalation Powder DPI) 180 ug x 2 Inhalations Twice Daily, in Adult and Adolescent African American Subjects With Asthma Completed NCT00702325 Phase 4 Budesonide / formoterol fumarate (SYMBICORT);Budesonide
24 Combining Lovastatin and a Parent-Implemented Language Intervention in a Multimodal Treatment for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
25 Riluzole in Fragile X Syndrome: A Pilot Study Incorporating Biomarker Assay Completed NCT00895752 Phase 4 Riluzole
26 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy in Thai Patients Completed NCT00851461 Phase 4 Goserelin
27 A Double-blind, Randomized Clinical Trial to Evaluate the Lot-to-lot Consistency, Immunogenicity and Safety of an Inactivated SARS-CoV-2 Vaccine (CoronaVac) in Health Adults Aged 26-45 Years Completed NCT04894227 Phase 4
28 Study of the Effect of Atorvastatin for Reducing "Inflaming" (Aging-related Complication) in HIV-infected Patients Older Than 45 Years Receiving a Protease Inhibitor-based Regimen Versus a Raltegravir-based Regimen Completed NCT02577042 Phase 4 Raltegravir;PI-based regimen;Atorvastatin
29 XEN-45 Gel Stent Versus Trabeculectomy in Glaucoma: Gold-Standard Pathway Study (GPS) Completed NCT03654885 Phase 4
30 An Open Label, Single Centre, Randomised, Phase IV, Pharmacokinetic, Pharmacodynamic, and Safety Study to Evaluate Single and Multiple Doses of 45, 60, and 90 mg of Ticagrelor in Chinese Patients With Stable Coronary Heart Disease Completed NCT02064985 Phase 4 Inhibition of Platelet Aggregation by "Brilinta"(Ticagrelor)
31 A Randomised, Double-blind, Double-dummy, Parallel-group, Active-controlled Study Evaluating the Efficacy of Vardenafil Versus Tadalafil When Intercourse is Attempted Within 45 Minutes of Administration in Subjects With Erectile Dysfunction Completed NCT00663130 Phase 4 Levitra (Vardenafil, BAY38-9456);Tadalafil
32 Subcutaneous Treatment of Anemia in Patients With a GFR Below 45 ml/Min/1.73m2 Through Injections With Mircera as Low Frequent as Once Monthly (STABILO) Completed NCT00642668 Phase 4 methoxy polyethylene glycol-epoetin beta
33 Randomized Open Label Study to Evaluate the Effect of (Omega-3) EPA + Docosahexaenoic Acid (DHA) vs Soy Isoflavones in 100 Postmenopausal Women Between 45-65 Years With Moderate to Severe Vasomotor Symptoms. Completed NCT02195609 Phase 4
34 Comparison of Vehicle Delivery Depth Using the NovoFine® 5 mm Needle With or Without a Skin Fold and Inserted at Either 45 or 90 Degrees Completed NCT00894270 Phase 4
35 An Open Label Study Evaluating the Safety and Efficacy of Switching From Rilpivirine/Emtricitabine/Tenofovir Alafenamide in Combination With Dolutegravir, to Bictegravir/Emtricitabine/Tenofovir Alafenamide in Combination With Doravirine, in Male HIV+ Subjects > 45 Years With Multi-drug Resistant Virus and Virologic Suppression (Documented With at Least One Viral Load Result < 50 Copies Per mL) During the Last 6 Months on Current Therapy Completed NCT04538040 Phase 4 Bictegravir/emtricitabine/tenofovir alafenamide + Doravirine switch
36 Comparison of Anti-Xa Activity in the Treatment With Enoxaparin in ACS Admitted to the Emergency. Randomized Clinical Trial ENOXA ® Versus LOVENOX ® Completed NCT01687491 Phase 4 ENOXA®;LOVENOX®
37 A Phase IV Study, Prospective, Randomised, Open Label, Blinded Endpoint, Parallel Group, 9 Weeks of Comparison Between Oral Administration of Telmisartan Tablet (80mg Once Daily) and Amlodipine Tablet (10 mg Once Daily) on Biological PPAR Gamma Activities in Non Controlled Hypertensive Male Patients With Metabolic Syndrome Completed NCT00242814 Phase 4 Micardis;Amlodipine
38 The Metabolic Syndrome in Patients With Schizophrenia Completed NCT00338949 Phase 4 Switch;Control
39 A Multi-Center, Double-Blind, Randomized, Superiority Clinical Study to Compare the Effects of Cilnidipine on Metabolic Syndrome Improvement With Nifedipine GITS in Hypertensive Patients With Metabolic Syndrome (Phase IV) [SLIMS] Completed NCT00325936 Phase 4 Cilnidipine
40 The Effects of Aripiprazole on Patients With "Metabolic Syndrome": An Open-Label Trial Completed NCT00224822 Phase 4 Aripiprazole
41 Oral Contraceptives in the Metabolic Syndrome Completed NCT00205504 Phase 4 Ortho Tri Cyclen
42 The Effects of Night-time Versus Morning Administration of Eplerenone on the Diurnal Variation of Plasminogen Activator Inhibitor-1 Completed NCT00515021 Phase 4 Eplerenone (Morning);Eplerenone (Night-time)
43 A 6-week, Randomised, Open-label, Parallel Group, Multi-centre Study to Compare the Efficacy of Rosuvastatin 10mg With Atorvastatin 10mg in the Treatment of Metabolic Syndrome Subjects With Raised LDL-C Completed NCT00395486 Phase 4 Rosuvastatin;Atorvastatin
44 Study of Niacin and Rosiglitazone in Dysmetabolic Dyslipidemia Completed NCT00304993 Phase 4 fenofibrate;niacin;rosiglitazone
45 APEX Study: Effects of Allopurinol on Coronary and Peripheral Endothelial Function in Patients With Cardiac Syndrome X Completed NCT00512057 Phase 4 allopurinol;placebo
46 A Randomized, Double-Blind Trial to Test Higher- Versus Lower-Doses of Aspirin on Inflammatory Markers and Platelet Biomarkers and Nitric Oxide Formation in High Risk Primary Prevention (Patients With Metabolic Syndrome) Completed NCT00272311 Phase 4 Aspirin
47 Mechanism of Fatty Acid-Induced Impairment of Glucose-Stimulated Insulin Secretion Completed NCT00188773 Phase 4 N-acetylcysteine, intralipid, heparin
48 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Completed NCT04146935 Phase 4 Burosumab Injection [Crysvita]
49 A Phase IV, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases (PID) in Children and Adolescents Completed NCT01289847 Phase 4
50 PROCLAIM: Pilot Study Examining Effects of Clopidogrel Compared to Placebo on Markers of Inflammation in Subjects With Metabolic Syndrome Completed NCT00296803 Phase 4 clopidogrel

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 28
2 Monosomy X 28

Anatomical Context for Turner Syndrome

Organs/tissues related to Turner Syndrome:

MalaCards : Heart, Skin, Kidney, Liver, Thyroid, Eye, T Cells

Publications for Turner Syndrome

Articles related to Turner Syndrome:

(show top 50) (show all 38788)
# Title Authors PMID Year
1
The effects of estrogen induction therapy on pubertal presentations in turner syndrome patients. 62 41
36088045 2022
2
MicroRNA-4516 in Urinary Exosomes as a Biomarker of Premature Ovarian Insufficiency. 62 41
36139370 2022
3
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol). 62 41
35821070 2022
4
Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia. 53 62
19850687 2009
5
Leg length, proportion, health and beauty: a review. 53 62
20440962 2009
6
Association of the exon 3 deleted/full-length GHR polymorphism with recombinant growth hormone dose in growth hormone-deficient adults. 53 62
19842933 2009
7
Imaging of SHOX-associated anomalies. 53 62
19724992 2009
8
SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome. 53 62
19016538 2009
9
Homozygous female Becker muscular dystrophy. 53 62
19396825 2009
10
Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment. 53 62
19407498 2009
11
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. 53 62
19188812 2009
12
Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences. 53 62
19506392 2009
13
Analysis of the SRY gene in a girl with 45,X/46,XY genotype. 53 62
19852431 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. 53 62
19153504 2009
15
Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation. 53 62
19031473 2009
16
First-trimester uterine artery Doppler and serum pregnancy-associated plasma protein-a in preeclampsia and chromosomal defects. 53 62
19776597 2009
17
Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome. 53 62
18545811 2008
18
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. 53 62
17973940 2008
19
Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome. 53 62
19030103 2008
20
IGF-I, IGFBP-3 and ALS generation test in Turner syndrome. 53 62
17540594 2007
21
SHOX at a glance: from gene to protein. 53 62
17922307 2007
22
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. 53 62
17182655 2007
23
The Human Pseudoautosomal Region (PAR): Origin, Function and Future. 53 62
18660847 2007
24
Effects of growth hormone on growth, insulin resistance and related hormones (ghrelin, leptin and adiponectin) in Turner syndrome. 53 62
17204837 2007
25
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. 53 62
17047016 2007
26
Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature. 53 62
17028440 2007
27
Future directions: growth prediction models. 53 62
18174708 2007
28
The development of mental state attributions in women with X-monosomy, and the role of monoamine oxidase B in the sociocognitive phenotype. 53 62
16412409 2007
29
The multiple indications for growth hormone treatment of pediatric patients. 53 62
17236440 2006
30
The GH-IGF-IGFBP axis is changed in Turner syndrome: partial normalization by HRT. 53 62
17067837 2006
31
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. 53 62
16918949 2006
32
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. 53 62
16908209 2006
33
Short stature and dysmorphology associated with defects in the SHOX gene. 53 62
16807223 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. 53 62
16291706 2006
35
Prevalence of autoantibodies associated with thyroid and celiac disease in Ullrich-Turner syndrome in relation to adult height after growth hormone treatment. 53 62
16562588 2006
36
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. 53 62
16227037 2005
37
Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. 53 62
15931595 2005
38
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome. 53 62
16052861 2005
39
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. 53 62
15687343 2005
40
The IGF system in childhood: physiology and clinical implications. 53 62
16114274 2005
41
The best marker combination using the integrated screening test approach for detecting various chromosomal aneuploidies. 53 62
16238533 2005
42
Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. 53 62
15223166 2004
43
Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome. 53 62
15173321 2004
44
Reference ranges for two automated chemiluminescent assays for serum insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3). 53 62
15259383 2004
45
Short-term growth hormone treatment in girls with Turner syndrome decreases fat mass and insulin sensitivity: a randomized, double-blind, placebo-controlled, crossover study. 53 62
12415026 2002
46
The human SHOX mutation database. 53 62
12402330 2002
47
[Ovarian genes]. 53 62
12478993 2002
48
Molecular detection of XO - Turner syndrome. 53 62
14963834 2002
49
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. 53 62
11889216 2002
50
SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. 53 62
11889214 2002

Variations for Turner Syndrome

ClinVar genetic disease variations for Turner Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 824 genes GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) CN LOSS Pathogenic
1703580 GRCh37: X:1-155270560
GRCh38:
2 overlap with 269 genes GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) CN LOSS Pathogenic
1703581 GRCh37: X:168546-52573789
GRCh38:
3 overlap with 311 genes COMPLEX Pathogenic
1703582 GRCh37: X:590376-56315041
GRCh38:
4 overlap with 317 genes GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) CN LOSS Pathogenic
1703583 GRCh37: X:168546-57841304
GRCh38:
5 overlap with 504 genes GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) CN LOSS Pathogenic
1703584 GRCh37: X:62685885-155233731
GRCh38:

Copy number variations for Turner Syndrome from CNVD:

6
# 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

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
Show member pathways
11.29 PAPPA IGFBP3 IGFBP1 IGF1
2
Show member pathways
11.23 IGF1 GHR GH1
3 10.46 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 region GO:0005576 10.36 TG SHBG SERPINA7 PAPPA IGFBP3 IGFBP1
2 extracellular space GO:0005615 10 TPO TG SERPINA7 PAPPA IGFBP3 IGFBP1
3 insulin-like growth factor ternary complex GO:0042567 9.56 IGFBP3 IGF1
4 insulin-like growth factor binding protein complex GO:0016942 9.46 IGF1 IGFBP3
5 growth hormone receptor complex GO:0070195 8.92 GHR GH1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.85 IGF1 GHR GH1
2 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.62 SHOX2 GHR
3 gonadal mesoderm development GO:0007506 9.56 TSPY1 AMH
4 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.46 IGFBP3 IGFBP1
5 sex differentiation GO:0007548 9.43 TSPY1 SRY AMH
6 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.1 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 II binding GO:0031995 9.46 IGFBP3 IGFBP1
2 hormone activity GO:0005179 9.32 TG IGF1 GH1 CGB3 AMH
3 growth factor binding GO:0019838 9.26 IGFBP3 IGFBP1 GHR

Sources for Turner Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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