MCID: TRN020
MIFTS: 69

Turner Syndrome

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

Aliases & Classifications for Turner Syndrome

MalaCards integrated aliases for Turner Syndrome:

Name: Turner Syndrome 12 72 49 24 55 28 40 41 14 69
Monosomy X 12 72 24 55 69
Gonadal Dysgenesis Turner Type 72 49
Bonnevie-Ullrich Syndrome 12 69
Ullrich-Turner Syndrome 49 24
Gonadal Dysgenesis 49 69
Turner's Syndrome 72 24
Schereshevkii Turner Syndrome 49
Gonadal Dysgenesis - Turner 12
Bonnevie-Ulrich Syndrome 49
Gonadal Dysgenesis, 45,x 69
Chromosome X Monosomy X 49
Turner Varny Syndrome 49
Monosomy X Syndrome 12
45,x/46,xx Syndrome 55
Turners Syndrome 51
Karyotype 45, X 12
45, X Syndrome 49
45,x Syndrome 55
Xo Syndrome 12
45,x 24
Ts 24

Characteristics:

Orphanet epidemiological data:

55
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:



Summaries for Turner Syndrome

NIH Rare Diseases : 49 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 X chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell). 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. Last updated: 7/13/2016

MalaCards based summary : Turner Syndrome, also known as monosomy x, is related to 46 xy gonadal dysgenesis and noonan syndrome 1, and has symptoms including short neck, delayed puberty and increased circulating gonadotropin level. An important gene associated with Turner Syndrome is SHOX (Short Stature Homeobox), and among its related pathways/superpathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. The drugs Progesterone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and ovary, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

MedlinePlus : 40 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

Genetics Home Reference : 24 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.

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 327)
# Related Disease Score Top Affiliating Genes
1 46 xy gonadal dysgenesis 33.9 CGB3 SHBG SRY
2 noonan syndrome 1 32.6 GHR IGF1 IGFBP3 SHOX
3 growth hormone deficiency 30.5 GH1 IGF1 IGFBP3
4 leri-weill dyschondrosteosis 30.3 SHOX SHOX2 SRY
5 slipped capital femoral epiphysis 30.1 IGF1 IGFBP3
6 hypopituitarism 30.0 GH1 IGF1 IGFBP3
7 secondary adrenal insufficiency 29.9 IGF1 IGFBP3
8 glucose intolerance 29.1 GH1 IGF1 IGFBP1 SHBG
9 hyperinsulinism 29.0 IGF1 IGFBP1 IGFBP3 SHBG
10 acromegaly 28.8 GH1 GHR IGF1 IGFBP1 IGFBP3
11 hypothyroidism 28.8 SHBG TG TPO
12 body mass index quantitative trait locus 11 28.7 GH1 GHR IGF1 IGFBP1 IGFBP3 SHBG
13 insulin-like growth factor i 28.2 BGLAP GH1 GHR IGF1 IGFBP1 IGFBP3
14 parsonage turner syndrome 12.2
15 turner syndrome due to structural x chromosome anomalies 12.0
16 pseudo-turner syndrome 12.0
17 gilles de la tourette syndrome 12.0
18 wilson-turner x-linked mental retardation syndrome 11.9
19 virus-associated trichodysplasia spinulosa 11.6
20 hypoplastic left heart syndrome 11.2
21 gonadal dysgenesis 11.2
22 premature ovarian failure 1 11.2
23 klippel-feil syndrome 11.2
24 trichostasis spinulosa 11.1
25 spatial visualization, aptitude for 11.0
26 amyotrophy, hereditary neuralgic 10.9
27 nuchal bleb, familial 10.9
28 46,xy sex reversal 10 10.9
29 cystic lymphangioma 10.9
30 brachial plexus lesion 10.9
31 hydrops fetalis 10.9
32 numeric sex chromosome variations 10.9
33 erb's palsy 10.9
34 brachial plexus neuritis 10.8
35 47,xyy 10.5 IGFBP3 SRY
36 pseudohypoparathyroidism, type ia 10.4 GH1 IGF1
37 non-functioning pituitary adenoma 10.4 GH1 GHR
38 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.4 IGF1 IGFBP3
39 diffuse idiopathic skeletal hyperostosis 10.3 IGF1 IGFBP3
40 47, xxy 10.3 IGFBP3 SHBG
41 pituitary adenoma 1, multiple types 10.3 GH1 IGF1 IGFBP3
42 hermaphroditism 10.3 SHBG SRY
43 isolated growth hormone deficiency, type ii 10.3 GH1 GHR IGF1
44 isolated growth hormone deficiency 10.3 GH1 GHR IGF1
45 pituitary hormone deficiency, combined, 2 10.3 GH1 GHR IGF1
46 bulimia nervosa 2 10.2 GH1 GHR IGF1
47 mammographic density 10.2 IGF1 IGFBP3
48 marasmus 10.2 GH1 IGFBP3 SHBG
49 complete androgen insensitivity syndrome 10.2 IGFBP3 SHBG SRY
50 ovarian dysgenesis 4 10.2

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:

55 31 (show top 50) (show all 120)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000470
2 delayed puberty 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000823
3 increased circulating gonadotropin level 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000837
4 short sternum 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000879
5 osteopenia 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000938
6 osteoporosis 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000939
7 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001511
8 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002750
9 cubitus valgus 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002967
10 short stature 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
11 wide intermamillary distance 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006610
12 aplasia/hypoplasia of the nipples 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006709
13 female infertility 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008222
14 postnatal growth retardation 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008897
15 increased upper to lower segment ratio 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012774
16 abnormal morphology of forearm bone 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0040073
17 retrognathia 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000278
18 micrognathia 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000347
19 hearing impairment 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
20 low-set ears 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000369
21 recurrent otitis media 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000403
22 webbed neck 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000465
23 thickened nuchal skin fold 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000474
24 broad neck 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000475
25 anxiety 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000739
26 impaired use of nonverbal behaviors 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000758
27 primary amenorrhea 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000786
28 hypertension 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000822
29 glucose intolerance 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000833
30 secondary amenorrhea 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000869
31 hashimoto thyroiditis 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000872
32 shield chest 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000914
33 specific learning disability 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001328
34 hepatic steatosis 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001397
35 obesity 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001513
36 failure to thrive in infancy 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001531
37 hypoplastic toenails 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001800
38 low posterior hairline 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002162
39 high, narrow palate 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002705
40 kyphosis 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002808
41 genu valgum 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002857
42 elevated hepatic transaminases 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002910
43 dermatoglyphic ridges abnormal 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0005689
44 enlargement of the distal femoral epiphysis 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006438
45 irregular proximal tibial epiphyses 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006456
46 neck pterygia 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0009759
47 short 4th metacarpal 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010044
48 short 5th metacarpal 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010047
49 hypermobility of toe joints 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010510
50 horseshoe kidney 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000085

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

25 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.85 IGFBP1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.85 BGLAP
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.85 SHOX
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.85 BGLAP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.85 BGLAP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.85 IGFBP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.85 SHOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.85 IGFBP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.85 TPO
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.85 SHOX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.85 SHOX BGLAP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.85 IGFBP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.85 BGLAP
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.85 BGLAP
15 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.85 BGLAP
16 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.85 IGFBP1 SHBG SHOX TPO BGLAP
17 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.85 IGFBP1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.85 SHOX
19 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.85 BGLAP
20 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.85 SHBG
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.85 SHOX
22 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.85 SHOX
23 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.85 TPO
24 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.85 SHBG
25 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.85 SHBG
26 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.85 TPO
27 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.85 TPO
28 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.85 SHBG
29 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.85 IGFBP1

Drugs & Therapeutics for Turner Syndrome

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

(show top 50) (show all 107)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4,Phase 3,Early Phase 1 57-83-0 5994
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-28-2 5757
3
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2 57-63-6 5991
4
Norethindrone Approved Phase 4 68-22-4 6230
5
Ganirelix Approved Phase 4 124904-93-4, 123246-29-7 25081094
6
Lenograstim Approved, Investigational Phase 4 135968-09-1
7
Lactitol Investigational Phase 4 585-86-4 3871
8 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
9 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
11 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 979-32-8
16 Polyestradiol phosphate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Contraceptives, Oral Phase 4,Phase 3,Phase 2
18 Norethindrone acetate Phase 4
19 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
20 Norinyl Phase 4
21 Progestins Phase 4,Phase 3,Early Phase 1
22 Chorionic Gonadotropin Phase 4
23 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
24 Deslorelin Phase 4
25 Luteolytic Agents Phase 4
26 Triptorelin Pamoate Phase 4
27 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
28 Hypoglycemic Agents Phase 4
29 insulin Phase 4
30 Insulin, Globin Zinc Phase 4
31
Testosterone Approved, Investigational Phase 3,Phase 2,Phase 1 58-22-0 6013
32
Methyltestosterone Approved Phase 3,Phase 1,Phase 2 58-18-4 6010
33
Oxandrolone Approved, Investigational Phase 3,Phase 2,Phase 1 53-39-4 5878
34
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
35
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
36
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
37 Racepinephrine Approved Phase 2, Phase 3 329-65-7
38
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 54670067 5785
39
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3, Phase 1, Early Phase 1 53-43-0 9860744
40 Anabolic Agents Phase 3,Phase 2,Phase 1
41 Androgens Phase 3,Phase 2,Phase 1
42 Antioxidants Phase 3
43 Estrogens, Conjugated (USP) Phase 3,Phase 1
44 Micronutrients Phase 3,Phase 1
45 Protective Agents Phase 3
46 Testosterone 17 beta-cypionate Phase 3,Phase 1,Phase 2
47
Testosterone enanthate Phase 3,Phase 1,Phase 2 315-37-7 9416
48 Testosterone undecanoate Phase 3,Phase 1,Phase 2
49 Trace Elements Phase 3,Phase 1
50 Vitamins Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 154)

# Name Status NCT ID Phase Drugs
1 Effects of ADSC Therapy in Women With POF Unknown status NCT01853501 Phase 4
2 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
3 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
4 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
5 A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone Completed NCT00097552 Phase 4
6 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
7 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
8 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
9 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
10 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen
11 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
12 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
13 Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure Completed NCT00732693 Phase 4 Ethinylestradiol / Norethisterone;Estradiol / Progesterone
14 Modified Natural Cycle Offers a Chance of Pregnancy in Patients With Poor Response and High Basal FSH Completed NCT00417157 Phase 4 recombinant FSH (Puregon, Organon, The Netherlands);GnRH antag: Ganirelix (Orgalutran, Organon, The Netherlands);hCG (Pregnyl, Organon, The Netherlands)
15 Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders Completed NCT00417066 Phase 4 Ganirelix 0.25mg (Orgalutran, Organon, The Netherlands);Arvekap 0.1mg (Triptorelin, Ipsen, France)
16 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
17 Filgrastim for Premature Ovarian Insufficiency Active, not recruiting NCT02783937 Phase 4 Saline
18 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4 somatropin (rDNA)
19 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
20 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
21 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
22 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
23 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
24 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
25 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
26 Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome Completed NCT00190658 Phase 3 Somatropin (rDNA origin) for injection
27 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
28 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
29 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
30 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Active, not recruiting NCT01813630 Phase 3 DA-3002;Genotropin®
31 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
32 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
33 Effect of Exercise and Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
34 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
35 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
36 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
37 Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
38 The Effects of Estrogen on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
39 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2 Growth Hormone (Humatrope)
40 Hormone Replacement Therapy to Treat Turner Syndrome Completed NCT00013546 Phase 2 TMTDS
41 The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone
42 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
43 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure Completed NCT02151890 Phase 1, Phase 2
44 GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
45 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
46 A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome Recruiting NCT03189160 Phase 2
47 Human Umbilical Cord Mesenchymal Stem Cells (HUC-MSCs) Transplantation in Women With Primary Ovarian Insufficiency (POI) Recruiting NCT03033277 Phase 1, Phase 2
48 Effect of Testosterone Treatment on Embryo Quality Recruiting NCT01662466 Phase 1, Phase 2 Testosterone cream (0.5mg per gram);Placebo
49 Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) Recruiting NCT02603744 Phase 1, Phase 2
50 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)

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

Anatomical Context for Turner Syndrome

MalaCards organs/tissues related to Turner Syndrome:

38
Bone, Testes, Ovary, Kidney, Thyroid, Heart, Skin

Publications for Turner Syndrome

Articles related to Turner Syndrome:

(show top 50) (show all 874)
# Title Authors Year
1
Phenotype in girls and women with turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations. ( 29339108 )
2018
2
Turner Syndrome: Diagnostic and Management Considerations for Perinatal Clinicians. ( 29406001 )
2018
3
Systematic review of quality of life in Turner syndrome. ( 29427215 )
2018
4
Acute Shoulder Pain Followed by Shoulder Weakness and Atrophy: A Characteristic Presentation of Parsonage-Turner Syndrome. ( 28956267 )
2018
5
Aortic root remodeling in a patient with Turner syndrome using the reference curves of aortic diameters in children. ( 29372397 )
2018
6
FSH may be a useful tool to allow early diagnosis of Turner syndrome. ( 29415703 )
2018
7
Clinical and cytogenetic features of 516 patients with suspected Turner syndrome - a single-center experience. ( 29303780 )
2018
8
Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis. ( 29449075 )
2018
9
MULTIMODAL IMAGING OF ANGIOID STREAKS ASSOCIATED WITH TURNER SYNDROME. ( 29443807 )
2018
10
A rare unbalanced Y:autosome translocation in a Turner syndrome patient. ( 29306927 )
2018
11
Determinants of Increased Aortic Diameters in Young Normotensive Patients With Turner Syndrome Without Structural Heart Disease. ( 29392348 )
2018
12
Atypical phenotypic aspects of autoimmune thyroid disorders in young patients with Turner syndrome. ( 29343299 )
2018
13
Turner Syndrome: transition from childhood to adolescence. ( 29309748 )
2018
14
Current best practice in the management of Turner syndrome. ( 29344338 )
2018
15
Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations. ( 29438552 )
2018
16
The predictive role of pelvic magnetic resonance in the follow up of spontaneous or induced puberty in turner syndrome. ( 29433553 )
2018
17
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. ( 28705803 )
2017
18
The Electrodiagnostic Natural History of Parsonage-Turner Syndrome. ( 28044362 )
2017
19
Winging of the scapula diagnosed as Parsonage-Turner syndrome: a case report. ( 28853127 )
2017
20
Increased Non-High-Density Lipoprotein Cholesterol in Children and Young Adults with Turner Syndrome Is Not Explained By BMI Alone. ( 28768282 )
2017
21
Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial. ( 27881458 )
2017
22
Unilateral Foot Swelling in an Adolescent With Turner Syndrome. ( 28478723 )
2017
23
Parsonage-Turner syndrome due to autochthonous acute genotype 3f hepatitis E virus infection in a nonimmunocompromised 55-year-old patient. ( 28439773 )
2017
24
Brachial Plexitis (Parsonage Turner Syndrome, Brachial Neuropathy, Brachial Radiculitis) ( 28846332 )
2017
25
Increased detection of co-morbidities with evaluation at a dedicated adult Turner syndrome clinic. ( 28753042 )
2017
26
Complications related to Turner syndrome. ( 28389010 )
2017
27
A 6-Year Follow-Up of Fracture Incidence and Volumetric Bone Mineral Density Development in Girls with Turner Syndrome. ( 29300907 )
2017
28
X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report. ( 29177011 )
2017
29
Otologic disorders in Turner syndrome. ( 28941966 )
2017
30
Phrenic Nerve Palsy Secondary to Parsonage-Turner Syndrome: A Diagnosis Commonly Overlooked. ( 28138789 )
2017
31
Revision of the Growth References for Japanese Girls with Turner Syndrome. ( 28516753 )
2017
32
A case report of acute myelogenous leukemia with Turner Syndrome. ( 28924290 )
2017
33
Chiari I Malformation Associated with Turner Syndrome. ( 28479808 )
2017
34
Atypical presentation of Parsonage-Turner syndrome confounded by surgical rotator cuff injury. ( 28739618 )
2017
35
Concurrent Van der Woude syndrome and Turner syndrome: A case report. ( 28228961 )
2017
36
Parsonage-Turner syndrome in a patient with bilateral shoulder pain: A case report. ( 29255532 )
2017
37
Adult Height in Patients with Turner Syndrome and Association with Lifestyle-related Diseases after Human Growth Hormone Treatment in Japan. ( 28516754 )
2017
38
Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient. ( 28706617 )
2017
39
Care of girls and women with Turner syndrome: beyond growth and hormones. ( 28336768 )
2017
40
CHARACTERIZATION OF SPONTANEOUS AND INDUCED PUBERTY IN GIRLS WITH TURNER SYNDROME. ( 28332872 )
2017
41
Development of disease-specific growth charts in Turner syndrome and Noonan syndrome. ( 29301184 )
2017
42
Clinical features of women with Turner syndrome experiencing transition period in Japan. ( 28331102 )
2017
43
Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material. ( 28349385 )
2017
44
Generation of an induced pluripotent stem cell line from chorionic villi of a Turner syndrome spontaneous abortion. ( 28412999 )
2017
45
Turner syndrome-specific and general population Z-scores are equivalent for most adults with Turner syndrome. ( 28328137 )
2017
46
Hypertensive Cerebral Hemorrhage in a Patient with Turner Syndrome Caused by Deletion in the Short Arm of the X Chromosome. ( 29275412 )
2017
47
Diagnostic and therapeutic considerations in Turner syndrome. ( 29301182 )
2017
48
Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome. ( 28736822 )
2017
49
Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome. ( 28804206 )
2017
50
New international Turner syndrome guideline: a multi-society feat. ( 28705802 )
2017

Variations for Turner Syndrome

Copy number variations for Turner Syndrome from CNVD:

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

Expression for Turner Syndrome

Search GEO for disease gene expression data for Turner Syndrome.

Pathways for Turner Syndrome

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 9.97 BGLAP CGB3 GH1 GHR IGF1 IGFBP1
2 extracellular space GO:0005615 9.86 BGLAP GH1 GHR IGF1 IGFBP1 IGFBP3
3 insulin-like growth factor ternary complex GO:0042567 9.16 IGF1 IGFBP3
4 insulin-like growth factor binding protein complex GO:0016942 8.96 IGF1 IGFBP3
5 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.67 BGLAP IGFBP3 SHOX2
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.58 GH1 GHR IGF1
3 sex differentiation GO:0007548 9.52 SRY TSPY1
4 positive regulation of JAK-STAT cascade GO:0046427 9.51 GH1 GHR
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.5 GH1 GHR IGF1
6 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.48 GH1 GHR
7 insulin-like growth factor receptor signaling pathway GO:0048009 9.46 GHR IGF1
8 hormone biosynthetic process GO:0042446 9.43 TG TPO
9 growth hormone receptor signaling pathway GO:0060396 9.37 GH1 GHR
10 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.26 IGFBP1 IGFBP3
11 skeletal system development GO:0001501 9.26 BGLAP IGF1 SHOX SHOX2
12 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.16 GHR SHOX2
13 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.8 GH1 IGF1 IGFBP3

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

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor binding GO:0005520 9.26 IGFBP1 IGFBP3
2 insulin-like growth factor I binding GO:0031994 9.16 IGFBP1 IGFBP3
3 insulin-like growth factor II binding GO:0031995 8.96 IGFBP1 IGFBP3
4 hormone activity GO:0005179 8.92 CGB3 GH1 IGF1 TG

Sources for Turner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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