TS
MCID: TRN020
MIFTS: 65

Turner Syndrome (TS) malady

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

Aliases & Classifications for Turner Syndrome

Aliases & Descriptions for Turner Syndrome:

Name: Turner Syndrome 12 71 50 25 56 41 42 14 69
Turner's Syndrome 71 25 29 14
Monosomy X 12 25 56 69
Bonnevie-Ullrich Syndrome 12 69
Ullrich-Turner Syndrome 50 25
Gonadal Dysgenesis 50 69
Gonadal Dysgenesis Turner Type 50
Schereshevkii Turner Syndrome 50
Gonadal Dysgenesis - Turner 12
Bonnevie-Ulrich Syndrome 50
Gonadal Dysgenesis, 45,x 69
Chromosome X Monosomy X 50
Turner Varny Syndrome 50
Monosomy X Syndrome 12
45,x/46,xx Syndrome 56
Turners Syndrome 52
Karyotype 45, X 12
45, X Syndrome 50
45,x Syndrome 56
Xo Syndrome 12
45,x 25
Ts 25

Characteristics:

Orphanet epidemiological data:

56
turner syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Austria),1-9/100000 (Belgium),1-5/10000 (Bulgaria),1-9/100000 (Croatia),1-5/10000 (Denmark),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-9/100000 (Malta),1-5/10000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Poland),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:3491
ICD10 33 Q96 Q96.0 Q96.9
MeSH 42 D014424
ICD10 via Orphanet 34 Q96.0 Q96.1 Q96.8 more
MESH via Orphanet 43 D014424
UMLS via Orphanet 70 C0041408

Summaries for Turner Syndrome

NIH Rare Diseases : 50 turner syndrome is a chromosomal disorder that affects development in females. it results when a female's cells has 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 turner's syndrome, is related to 46 xy gonadal dysgenesis and parsonage turner syndrome, and has symptoms including low-set ears, short neck and pectus excavatum. 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 thyroid, kidney and heart, and related phenotype is Increased shRNA abundance (Z-score > 2).

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.

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

Wikipedia : 71 Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or... more...

Related Diseases for Turner Syndrome

Diseases in the Turner Syndrome family:

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

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

(show top 50) (show all 265)
id Related Disease Score Top Affiliating Genes
1 46 xy gonadal dysgenesis 12.5
2 parsonage turner syndrome 12.1
3 wilson-turner syndrome 12.0
4 turner syndrome due to structural x chromosome anomalies 11.9
5 gilles de la tourette syndrome 11.7
6 pseudo-turner syndrome 11.7
7 noonan syndrome 1 11.7
8 gonadal dysgenesis 11.1
9 premature ovarian failure 11.1
10 klippel-feil syndrome 11.0
11 trichostasis spinulosa 11.0
12 tuberous sclerosis-1 10.9
13 timothy syndrome 10.9
14 amyotrophy, hereditary neuralgic 10.8
15 nuchal bleb, familial 10.8
16 lymphangioma 10.8
17 cystic lymphangioma 10.8
18 brachial plexus lesion 10.8
19 hydrops fetalis 10.8
20 numeric sex chromosome variations 10.8
21 erb's palsy 10.8
22 albinism, oculocutaneous, type ib 10.7
23 tsc2 angiomyolipomas, renal, modifier of 10.7
24 huriez syndrome 10.7
25 virus-associated trichodysplasia spinulosa 10.7
26 premature ovarian failure 1 10.7
27 brachial plexus neuritis 10.7
28 mental retardation, x-linked, syndromic, wilson-turner type 10.7
29 ptpn11-related noonan syndrome 10.7
30 sohval soffer syndrome 10.3 IGF1 IGFBP3
31 deafness, autosomal dominant 25 10.3 GHR IGF1
32 seow najjar syndrome 10.2 IGF1 IGFBP3
33 critical congenital heart disease 10.2 GH1 IGF1
34 pemphigus vegetans 10.2 GH1 GHR
35 autism susceptibility, x-linked 2 10.2 SHOX SHOX2 SRY
36 spondylometaphyseal dysplasia, megarbane-dagher-melike type 10.2 GH1 IGF1 IGFBP3
37 colorectal cancer 10.2
38 microvascular complications of diabetes 3 10.2 GH1 GHR IGF1
39 ossification of the posterior longitudinal ligament of spine 10.2 GH1 GHR IGF1
40 mucopolysaccharidosis type vi 10.2 GH1 GHR IGF1
41 cervix squamous papilloma 10.2 GH1 IGF1 IGFBP3
42 male genital organ stricture 10.2 GH1 IGFBP3 SHBG
43 adamantinous craniopharyngioma 10.2 GH1 GHR IGF1
44 capgras syndrome 10.1 IGF1 IGFBP3
45 dykes markes harper syndrome 10.1 GH1 GHR IGF1 SHOX
46 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 10.1 GH1 GHR IGF1
47 congenital articular rigidity 10.1 IGFBP3 SHBG SRY
48 axial osteomalacia 10.1 BGLAP GH1 IGF1
49 microtia, hearing impairment, and cleft palate 10.1 GH1 GHR IGF1 IGFBP3
50 epileptic encephalopathy, early infantile, 24 10.1 GH1 GHR IGF1 IGFBP3

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:

56 32 (show top 50) (show all 87)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 56 32 Frequent (79-30%) HP:0000369
2 short neck 56 32 Very frequent (99-80%) HP:0000470
3 pectus excavatum 56 32 Frequent (79-30%) HP:0000767
4 obesity 56 32 Frequent (79-30%) HP:0001513
5 ptosis 56 32 Occasional (29-5%) HP:0000508
6 depression 56 32 Occasional (29-5%) HP:0000716
7 hypertension 56 32 Frequent (79-30%) HP:0000822
8 osteopenia 56 32 Very frequent (99-80%) HP:0000938
9 scoliosis 56 32 Occasional (29-5%) HP:0002650
10 hearing impairment 56 32 Frequent (79-30%) HP:0000365
11 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
12 delayed skeletal maturation 56 32 Occasional (29-5%) HP:0002750
13 short stature 56 32 Very frequent (99-80%) HP:0004322
14 delayed puberty 56 32 Very frequent (99-80%) HP:0000823
15 osteoporosis 56 32 Very frequent (99-80%) HP:0000939
16 micrognathia 56 32 Occasional (29-5%) HP:0000347
17 myocardial infarction 56 32 Occasional (29-5%) HP:0001658
18 ectopic kidney 56 32 Frequent (79-30%) HP:0000086
19 strabismus 56 32 Occasional (29-5%) HP:0000486
20 epicanthus 56 32 Occasional (29-5%) HP:0000286
21 attention deficit hyperactivity disorder 56 32 Occasional (29-5%) HP:0007018
22 lymphedema 56 32 Occasional (29-5%) HP:0001004
23 enlarged thorax 56 32 Very frequent (99-80%) HP:0100625
24 abnormality of the ovary 56 32 Very frequent (99-80%) HP:0000137
25 increased circulating gonadotropin level 56 32 Very frequent (99-80%) HP:0000837
26 low posterior hairline 56 32 Very frequent (99-80%) HP:0002162
27 cubitus valgus 56 32 Very frequent (99-80%) HP:0002967
28 wide intermamillary distance 56 32 Very frequent (99-80%) HP:0006610
29 aplasia/hypoplasia of the nipples 56 32 Very frequent (99-80%) HP:0006709
30 female infertility 56 32 Very frequent (99-80%) HP:0008222
31 precocious menopause 56 32 Very frequent (99-80%) HP:0100805
32 horseshoe kidney 56 32 Frequent (79-30%) HP:0000085
33 recurrent otitis media 56 32 Frequent (79-30%) HP:0000403
34 webbed neck 56 32 Frequent (79-30%) HP:0000465
35 thickened nuchal skin fold 56 32 Frequent (79-30%) HP:0000474
36 anxiety 56 32 Frequent (79-30%) HP:0000739
37 impaired use of nonverbal behaviors 56 32 Frequent (79-30%) HP:0000758
38 primary amenorrhea 56 32 Frequent (79-30%) HP:0000786
39 hashimoto thyroiditis 56 32 Frequent (79-30%) HP:0000872
40 abnormality of the fingernails 56 32 Frequent (79-30%) HP:0001231
41 hepatic steatosis 56 32 Frequent (79-30%) HP:0001397
42 hypoplastic toenails 56 32 Frequent (79-30%) HP:0001800
43 high, narrow palate 56 32 Frequent (79-30%) HP:0002705
44 elevated hepatic transaminases 56 32 Frequent (79-30%) HP:0002910
45 dilatation of the aortic arch 56 32 Frequent (79-30%) HP:0005113
46 abnormal dermatoglyphics 56 32 Frequent (79-30%) HP:0007477
47 postnatal growth retardation 56 32 Frequent (79-30%) HP:0008897
48 neck pterygia 56 32 Frequent (79-30%) HP:0009759
49 short 4th metacarpal 56 32 Frequent (79-30%) HP:0010044
50 cystic hygroma 56 32 Occasional (29-5%) HP:0000476

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

26
id 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 108)
id 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 53477783
3
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
4
Norethindrone Approved Phase 4 68-22-4 6230
5
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2 57-63-6 5991
6
Lenograstim Approved Phase 4 135968-09-1
7 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
8 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
10 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
11 Progestins Phase 4,Phase 3,Early Phase 1
12 Deslorelin Phase 4
13
Lactitol Phase 4 585-86-4 3871
14 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 979-32-8
15 Triptorelin Pamoate Phase 4
16 Chorionic Gonadotropin Phase 4
17 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Contraceptives, Oral Phase 4,Phase 3,Phase 2
19 Norethindrone acetate Phase 4
20 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
21 Norinyl Phase 4
22 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
23 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 Polyestradiol phosphate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Luteolytic Agents Phase 4
26 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
27 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
28 insulin Phase 4
29 Hypoglycemic Agents 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 2,Phase 1 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
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
36
Norgestimate Approved Phase 3 35189-28-7 6540478
37
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
38
Dehydroepiandrosterone Approved, Nutraceutical Phase 2, Phase 3, Phase 1, Early Phase 1 53-43-0 9860744
39 Testosterone undecanoate Phase 3,Phase 2,Phase 1
40 Testosterone 17 beta-cypionate Phase 3,Phase 2,Phase 1
41
Testosterone enanthate Phase 3,Phase 2,Phase 1 315-37-7 9416
42
Medroxyprogesterone Phase 3,Phase 2 520-85-4 10631
43 Contraceptive Agents, Male Phase 3,Phase 2
44 Anabolic Agents Phase 3,Phase 2,Phase 1
45 Trace Elements Phase 3
46 Androgens Phase 3,Phase 2,Phase 1
47 Vitamins Phase 3,Phase 2
48 Estrogens, Conjugated (USP) Phase 3,Phase 1
49 Protective Agents Phase 3
50 Micronutrients Phase 3

Interventional clinical trials:

(show top 50) (show all 153)
id Name Status NCT ID Phase
1 Effects of ADSC Therapy in Women With POF Unknown status NCT01853501 Phase 4
2 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4
3 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
4 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
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
7 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4
8 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4
9 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4
10 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4
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
14 Modified Natural Cycle Offers a Chance of Pregnancy in Patients With Poor Response and High Basal FSH Completed NCT00417157 Phase 4
15 Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders Completed NCT00417066 Phase 4
16 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4
17 Filgrastim for Premature Ovarian Insufficiency Active, not recruiting NCT02783937 Phase 4
18 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4
19 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Unknown status NCT01813630 Phase 3
20 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3
21 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3
22 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3
23 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3
24 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3
25 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3
26 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3
27 Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome Completed NCT00190658 Phase 3
28 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3
29 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3
30 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3
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 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
34 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
35 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2
36 Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome Completed NCT00004275 Phase 2
37 The Effects of Estrogen on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
38 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2
39 Hormone Replacement Therapy to Treat Turner Syndrome Completed NCT00013546 Phase 2
40 The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2
41 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
42 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure Completed NCT02151890 Phase 1, Phase 2
43 GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2
44 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2
45 Healthy Eating for Reproductive Health (HERHealth) Completed NCT01509066 Phase 1, Phase 2
46 Safety and Immunogenicity of IMVAMUNE® (MVA-BN®) Smallpox Vaccine in HIV Infected Patients Completed NCT00316589 Phase 2
47 Safety and Effectiveness of an Adjuvant in Improving Immune Response to Hepatitis B Virus Vaccine in HIV Infected Individuals Completed NCT00272493 Phase 2
48 Human Umbilical Cord Mesenchymal Stem Cells (HUC-MSCs) Transplantation in Women With Primary Ovarian Insufficiency (POI) Recruiting NCT03033277 Phase 1, Phase 2
49 Effect of Testosterone Treatment on Embryo Quality Recruiting NCT01662466 Phase 1, Phase 2
50 Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF Recruiting NCT02644447 Phase 1, Phase 2

Search NIH Clinical Center for Turner Syndrome

Cochrane evidence based reviews: turner syndrome

Genetic Tests for Turner Syndrome

Genetic tests related to Turner Syndrome:

id Genetic test Affiliating Genes
1 Turner Syndrome 29

Anatomical Context for Turner Syndrome

MalaCards organs/tissues related to Turner Syndrome:

39
Thyroid, Kidney, Heart, Ovary, Testes, Skin, Bone

Publications for Turner Syndrome

Articles related to Turner Syndrome:

(show top 50) (show all 823)
id Title Authors Year
1
Generation of an induced pluripotent stem cell line from chorionic villi of a Turner syndrome spontaneous abortion. ( 28412999 )
2017
2
Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material. ( 28349385 )
2017
3
Thyroid Autoimmunity in Girls with Turner Syndrome. ( 28456931 )
2017
4
Complications related to Turner syndrome. ( 28389010 )
2017
5
Pulmonary Vein Varices Are Syndromic Features in Turner Syndrome. ( 28463845 )
2017
6
Diagnosis of a Chinese man with 45,X/46,X,i(Y)(q10)/47,X,i(Y) (q10) A92 mosaic Turner syndrome. ( 28091398 )
2017
7
Rebuttal: Adverse outcome of coarctation stenting in patients with Turner syndrome. ( 28417607 )
2017
8
Clinical features of women with Turner syndrome experiencing transition period in Japan. ( 28331102 )
2017
9
Audiometric features in young adults with Turner syndrome. ( 28420278 )
2017
10
CHARACTERIZATION OF SPONTANEOUS AND INDUCED PUBERTY IN GIRLS WITH TURNER SYNDROME. ( 28332872 )
2017
11
Concurrent Van der Woude syndrome and Turner syndrome: A case report. ( 28228961 )
2017
12
Chiari I Malformation Associated with Turner Syndrome. ( 28479808 )
2017
13
Parsonage-Turner syndrome due to autochthonous acute genotype 3f hepatitis E virus infection in a nonimmunocompromised 55-year-old patient. ( 28439773 )
2017
14
Adult Height in Patients with Turner Syndrome and Association with Lifestyle-related Diseases after Human Growth Hormone Treatment in Japan. ( 28516754 )
2017
15
Prepubertal ultra-low-dose estrogen therapy is associated with healthier lipid profile than conventional estrogen replacement for pubertal induction in adolescent girls with Turner syndrome: preliminary results. ( 28397183 )
2017
16
Revision of the Growth References for Japanese Girls with Turner Syndrome. ( 28516753 )
2017
17
The Electrodiagnostic Natural History of Parsonage-Turner Syndrome. ( 28044362 )
2017
18
Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial. ( 27881458 )
2017
19
Care of girls and women with Turner syndrome: beyond growth and hormones. ( 28336768 )
2017
20
Turner syndrome-specific and general population Z-scores are equivalent for most adults with Turner syndrome. ( 28328137 )
2017
21
Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study). ( 28496331 )
2017
22
Delay in estrogen commencement is associated with lower bone mineral density in Turner syndrome. ( 28523940 )
2017
23
Unilateral Foot Swelling in an Adolescent With Turner Syndrome. ( 28478723 )
2017
24
Selenium Status in Patients with Turner Syndrome: a Biochemical Assessment Related with Body Composition. ( 27565799 )
2016
25
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. ( 27784012 )
2016
26
Pregnancy after oocyte donation in 45, X Turner syndrome women, complicated by gestational diabetes and polyhydramnios. Case report and mini-review of literature. ( 26942946 )
2016
27
Unusual association of turner syndrome and hypopituitarism in a Tunisian family. ( 27140594 )
2016
28
Correction of Pterygium Colli in Turner Syndrome: A Clinical Report and Review of the Surgical Management. ( 28005757 )
2016
29
Phenotypic expression of Hashimoto's thyroiditis is absolutely atypical in girls with Turner syndrome. ( 27648994 )
2016
30
Brachial neuritis or Parsonage-Turner syndrome: A problem of liability. A presentation of 3 cases. ( 26948383 )
2016
31
The MRI Bullseye Sign: An Indicator of Peripheral Nerve Constriction in Parsonage-Turner Syndrome. ( 27864992 )
2016
32
Laparoscopic Removal of Streak Gonads in Turner Syndrome. ( 27198173 )
2016
33
A Case of Turner Syndrome with Multiple Embolic Infarcts. ( 27790125 )
2016
34
Parsonage-Turner Syndrome: A Case of Idiopathic Upper Extremity Paresis Following Middle Cranial Fossa Resection of a Vestibular Schwannoma. ( 27518132 )
2016
35
A rare case of solitary brain Langerhans cell histiocytosis with intratumoral hemorrhage in a patient affected by Turner syndrome. ( 27127696 )
2016
36
Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome. ( 27122429 )
2016
37
Body composition and bone mineral status in patients with Turner syndrome. ( 27901060 )
2016
38
Validating Genetic markers of response to recombinant human growth hormone (r-hGH) in children with growth hormone deficiency (GHD) and Turner Syndrome (TS): The PREDICT Validation study. ( 27651465 )
2016
39
Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome. ( 27614983 )
2016
40
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 27777913 )
2016
41
Generalized pustular psoriasis associated with Turner syndrome and dilated cardiomyopathy. ( 26870904 )
2016
42
Epigenetic Dysfunction in Turner Syndrome Immune Cells. ( 27039394 )
2016
43
A 6-year Follow-up Survey of Health Status in Middle-Aged Women with Turner Syndrome. ( 27004718 )
2016
44
Fertility and Pregnancy in Turner Syndrome. ( 27638981 )
2016
45
OS 24-05 IMPAIRED VASCULAR FUNCTION OF AORTA IN ADOLESCENT WITH TURNER SYNDROME. ( 27643051 )
2016
46
Face perception in women with Turner syndrome and its underlying factors. ( 27565637 )
2016
47
Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry. ( 27604636 )
2016
48
Re: A Case of High-Grade Transitional Cell Carcinoma of the Bladder in a Pediatric Patient with Turner Syndrome. ( 27597108 )
2016
49
Pilot Study of Blood Pressure in Girls With Turner Syndrome: An Awareness Gap, Clinical Associations, and New Hypotheses. ( 27217413 )
2016
50
Horseshoe kidney with growth retardation: Don't forget Turner syndrome. ( 27976569 )
2016

Variations for Turner Syndrome

Copy number variations for Turner Syndrome from CNVD:

7
id 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:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 BGLAP GH1 GHR IGF1 IGFBP1 IGFBP3
2 extracellular space GO:0005615 9.76 BGLAP GH1 GHR IGF1 IGFBP1 IGFBP3
3 insulin-like growth factor ternary complex GO:0042567 9.26 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 14)
id Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.69 BGLAP IGFBP3 SHOX2
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.63 GH1 GHR IGF1
3 sex differentiation GO:0007548 9.54 SRY TSPY1
4 positive regulation of JAK-STAT cascade GO:0046427 9.52 GH1 GHR
5 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.49 GH1 GHR
6 insulin-like growth factor receptor signaling pathway GO:0048009 9.48 GHR IGF1
7 skeletal system development GO:0001501 9.46 BGLAP IGF1 SHOX SHOX2
8 hormone biosynthetic process GO:0042446 9.43 TG TPO
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 GH1 GHR IGF1
10 growth hormone receptor signaling pathway GO:0060396 9.4 GH1 GHR
11 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.37 IGFBP1 IGFBP3
12 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.32 GHR SHOX2
13 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.13 GH1 GHR IGF1
14 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:

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 GH1 IGF1 TG
2 insulin-like growth factor binding GO:0005520 9.26 IGFBP1 IGFBP3
3 insulin-like growth factor I binding GO:0031994 8.96 IGFBP1 IGFBP3
4 insulin-like growth factor II binding GO:0031995 8.62 IGFBP1 IGFBP3

Sources for Turner Syndrome

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