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MCID: TRN020
MIFTS: 68

Turner Syndrome

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

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MalaCards integrated aliases for Turner Syndrome:

Name: Turner Syndrome 12 76 53 25 59 29 43 44 15 73
Monosomy X 12 76 25 59 73
Gonadal Dysgenesis Turner Type 76 53
Bonnevie-Ullrich Syndrome 12 73
Ullrich-Turner Syndrome 53 25
Gonadal Dysgenesis 53 73
Turner's Syndrome 76 25
Schereshevkii Turner Syndrome 53
Gonadal Dysgenesis - Turner 12
Bonnevie-Ulrich Syndrome 53
Gonadal Dysgenesis, 45,x 73
Chromosome X Monosomy X 53
Turner Varny Syndrome 53
Monosomy X Syndrome 12
45,x/46,xx Syndrome 59
Turners Syndrome 55
Syndrome, Turner 40
Karyotype 45, X 12
45, X Syndrome 53
45,x Syndrome 59
Xo Syndrome 12
45,x 25
Ts 25

Characteristics:

Orphanet epidemiological data:

59
turner syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Austria),1-9/100000 (Belgium),1-5/10000 (Bulgaria),1-9/100000 (Croatia),1-5/10000 (Denmark),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-9/100000 (Malta),1-5/10000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Poland),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Turner Syndrome

About this section
MedlinePlus : 43 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

MalaCards based summary : Turner Syndrome, also known as monosomy x, is related to 46 xy 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 Development IGF-1 receptor signaling and Endochondral Ossification. The drugs Progesterone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and thyroid, and related phenotypes are short neck and delayed puberty

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or... more...

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Related Diseases for Turner Syndrome

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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 323)
# Related Disease Score Top Affiliating Genes
1 46 xy gonadal dysgenesis 33.9 CGB3 SHBG SRY
2 noonan syndrome 1 33.1 GHR IGF1 IGFBP3 SHOX
3 growth hormone deficiency 30.8 GH1 IGF1 IGFBP3
4 slipped capital femoral epiphysis 30.6 IGF1 IGFBP3
5 47, xxy 30.3 IGFBP3 SHBG
6 secondary adrenal insufficiency 30.3 IGF1 IGFBP3
7 hypopituitarism 30.3 GH1 IGF1 IGFBP3
8 leri-weill dyschondrosteosis 30.1 GHR SHOX SHOX2 SRY
9 glucose intolerance 29.3 IGF1 IGFBP1 SHBG
10 neonatal hypothyroidism 28.9 TG TPO
11 hyperinsulinism 28.7 GH1 IGF1 IGFBP1 IGFBP3 SHBG
12 diabetes mellitus, noninsulin-dependent 28.7 GH1 IGF1 IGFBP1 IGFBP3 SHBG
13 acromegaly 28.6 GH1 GHR IGF1 IGFBP1 IGFBP3
14 hypothyroidism 27.4 GH1 IGF1 IGFBP3 SHBG TG TPO
15 insulin-like growth factor i 27.3 BGLAP GH1 GHR IGF1 IGFBP1 IGFBP3
16 parsonage turner syndrome 12.3
17 mental retardation, x-linked, syndromic, turner type 12.2
18 wilson-turner x-linked mental retardation syndrome 12.0
19 turner syndrome due to structural x chromosome anomalies 12.0
20 gilles de la tourette syndrome 12.0
21 pseudo-turner syndrome 12.0
22 premature ovarian failure 1 11.7
23 virus-associated trichodysplasia spinulosa 11.6
24 gonadal dysgenesis 11.2
25 cystic lymphangioma 11.2
26 hydrops fetalis 11.2
27 klippel-feil syndrome 11.1
28 spatial visualization, aptitude for 11.0
29 amyotrophy, hereditary neuralgic 10.8
30 ullrich congenital muscular dystrophy 1 10.8
31 nuchal bleb, familial 10.8
32 46,xy sex reversal 10 10.8
33 lymphangioma 10.8
34 brachial plexus lesion 10.8
35 numeric sex chromosome variations 10.8
36 erb's palsy 10.8
37 47,xyy 10.8 IGFBP3 SRY
38 brachial plexus neuritis 10.8
39 pseudohypoparathyroidism, type ia 10.7 GH1 IGF1
40 non-functioning pituitary adenoma 10.7 GH1 GHR
41 empty sella syndrome 10.7 GH1 IGF1
42 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.6 IGF1 IGFBP3
43 diffuse idiopathic skeletal hyperostosis 10.6 IGF1 IGFBP3
44 central precocious puberty 10.6 IGF1 IGFBP3
45 pituitary adenoma 1, multiple types 10.5 GH1 IGF1 IGFBP3
46 hermaphroditism 10.5 SHBG SRY
47 mammographic density 10.5 IGF1 IGFBP3
48 isolated growth hormone deficiency, type ib 10.5 GH1 IGF1 IGFBP3
49 isolated growth hormone deficiency, type ii 10.5 GH1 GHR IGF1
50 pituitary hormone deficiency, combined, 2 10.5 GH1 GHR IGF1

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



Diseases related to Turner Syndrome
Sources

Symptoms & Phenotypes for Turner Syndrome

About this section

Human phenotypes related to Turner Syndrome:

59 32 (show top 50) (show all 119)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000470
2 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000823
3 increased circulating gonadotropin level 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000837
4 short sternum 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000879
5 osteopenia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000938
6 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000939
7 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001511
8 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002750
9 cubitus valgus 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002967
10 short stature 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
11 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006610
12 aplasia/hypoplasia of the nipples 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006709
13 premature ovarian insufficiency 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008209
14 female infertility 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008222
15 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008897
16 increased upper to lower segment ratio 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012774
17 retrognathia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000278
18 micrognathia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000347
19 hearing impairment 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
20 low-set ears 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000369
21 recurrent otitis media 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000403
22 webbed neck 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000465
23 thickened nuchal skin fold 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000474
24 broad neck 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000475
25 anxiety 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000739
26 impaired use of nonverbal behaviors 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000758
27 primary amenorrhea 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000786
28 hypertension 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000822
29 glucose intolerance 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000833
30 secondary amenorrhea 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000869
31 hashimoto thyroiditis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000872
32 shield chest 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000914
33 specific learning disability 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001328
34 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001397
35 obesity 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001513
36 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001531
37 hypoplastic toenails 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001800
38 low posterior hairline 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002162
39 high, narrow palate 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002705
40 kyphosis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002808
41 genu valgum 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002857
42 elevated hepatic transaminases 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002910
43 dermatoglyphic ridges abnormal 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0005689
44 enlargement of the distal femoral epiphysis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006438
45 irregular proximal tibial epiphyses 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006456
46 neck pterygia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0009759
47 short 4th metacarpal 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010044
48 short 5th metacarpal 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010047
49 hypermobility of toe joints 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010510
50 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000085

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

26 (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 BGLAP TPO
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
Sources

Drugs & Therapeutics for Turner Syndrome

About this section

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

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4,Phase 3,Not Applicable,Early Phase 1 57-83-0 5994
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-28-2 5757
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 979-32-8
4
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 28014-46-2
5
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Not Applicable 57-63-6 5991
6
Norethindrone Approved Phase 4,Not Applicable 68-22-4 6230
7
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
8
Lenograstim Approved, Investigational Phase 4 135968-09-1
9
Lactitol Investigational Phase 4 585-86-4 3871
10 Deslorelin Investigational, Vet_approved Phase 4 57773-65-6
11 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
12 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
14 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
15 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Contraceptives, Oral Phase 4,Phase 3,Phase 2,Not Applicable
19 Norethindrone acetate Phase 4,Not Applicable
20 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
21 Norinyl Phase 4
22 Progestins Phase 4,Phase 3,Not Applicable,Early Phase 1
23 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
24 Luteolytic Agents Phase 4
25 Triptorelin Pamoate Phase 4
26 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
27
Testosterone Approved, Investigational Phase 3,Phase 2,Phase 1 58-22-0 6013
28
Methyltestosterone Approved Phase 3,Phase 1,Phase 2 58-18-4 6010
29
Oxandrolone Approved, Investigational Phase 3,Phase 2,Phase 1 53-39-4 5878
30
Testosterone enanthate Approved Phase 3,Phase 1,Phase 2 315-37-7 9416
31
Testosterone undecanoate Approved, Investigational Phase 3,Phase 1,Phase 2 5949-44-0
32
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
33
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
34
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
35
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
36
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
37
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1 53-43-0 9860744
38 Anabolic Agents Phase 3,Phase 2,Phase 1
39 Androgens Phase 3,Phase 2,Phase 1
40 Antioxidants Phase 3
41 Estrogens, Conjugated (USP) Phase 3,Phase 1,Not Applicable
42 Micronutrients Phase 3,Phase 1
43 Protective Agents Phase 3
44 Testosterone 17 beta-cypionate Phase 3,Phase 1,Phase 2
45 Trace Elements Phase 3,Phase 1
46 Vitamins Phase 3,Phase 2,Phase 1
47 Contraceptive Agents, Male Phase 3,Phase 2
48
Medroxyprogesterone Phase 3,Phase 2 520-85-4 10631
49 Contraceptives, Oral, Combined Phase 3
50 Epinephryl borate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 163)
# 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 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
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 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
11 Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure Completed NCT00732693 Phase 4 Ethinylestradiol / Norethisterone;Estradiol / Progesterone
12 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)
13 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
14 Filgrastim for Premature Ovarian Insufficiency Active, not recruiting NCT02783937 Phase 4 Saline
15 Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure Not yet recruiting NCT03535480 Phase 4 G-CSF
16 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
17 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
18 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
19 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
20 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
21 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
22 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
23 Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome Completed NCT00190658 Phase 3 Somatropin (rDNA origin) for injection
24 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
25 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
26 Primary Ovarian Insufficiency: Phenotype and Optimal Treatment Recruiting NCT03568708 Phase 3 Transdermal Estrogen
27 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
28 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Active, not recruiting NCT01813630 Phase 3 DA-3002;Genotropin®
29 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
30 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
31 Effect of Exercise and Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
32 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
33 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
34 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
35 Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
36 The Effects of Estrogen on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
37 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2 Growth Hormone (Humatrope)
38 Hormone Replacement Therapy to Treat Turner Syndrome Completed NCT00013546 Phase 2 TMTDS
39 The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone
40 Chinese Medicine(Hu Yang Yang Kun Formula) for Primary Ovarian Insufficiency Completed NCT02794948 Phase 1, 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 Leuprolide Acetate
44 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
45 A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome Recruiting NCT03189160 Phase 2
46 Human Umbilical Cord Mesenchymal Stem Cells (HUC-MSCs) Transplantation in Women With Primary Ovarian Insufficiency (POI) Recruiting NCT03033277 Phase 1, Phase 2
47 Effect of Testosterone Treatment on Embryo Quality Recruiting NCT01662466 Phase 1, Phase 2 Testosterone cream (0.5mg per gram);Placebo
48 Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) Recruiting NCT02603744 Phase 1, Phase 2
49 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)
50 Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) Active, not recruiting NCT03069209 Phase 1, Phase 2

Search NIH Clinical Center for Turner Syndrome

Cochrane evidence based reviews: turner syndrome

Sources

Genetic Tests for Turner Syndrome

About this section

Genetic tests related to Turner Syndrome:

# Genetic test Affiliating Genes
1 Turner Syndrome 29
Sources

Anatomical Context for Turner Syndrome

About this section

MalaCards organs/tissues related to Turner Syndrome:

41
Bone, Testes, Thyroid, Ovary, Kidney, Heart, Skin
Sources

Publications for Turner Syndrome

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Articles related to Turner Syndrome:

(show top 50) (show all 957)
# Title Authors Year
1
Acute Shoulder Pain Followed by Shoulder Weakness and Atrophy: A Characteristic Presentation of Parsonage-Turner Syndrome. ( 28956267 )
2018
2
Elongated Transverse Aortic Arch A^n Subjects Without Turner Syndrome: A Preliminary Computed Tomography Study. ( 29770485 )
2018
3
Phenotype in girls and women with turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations. ( 29339108 )
2018
4
Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis. ( 29449075 )
2018
5
Development of a computer-aided tool for the pattern recognition of facial features in diagnosing Turner syndrome: comparison of diagnostic accuracy with clinical workers. ( 29915349 )
2018
6
Hepatitis E virus in neurological disorders: a case of Parsonage-Turner syndrome. ( 29685043 )
2018
7
The assessment of skeletal status in young patients with Turner syndrome by 2 densitometric techniques: Phalangeal quantitative ultrasound and dual energy X-ray absorptiometry. ( 29877636 )
2018
8
Clinical and cytogenetic features of 516 patients with suspected Turner syndrome - a single-center experience. ( 29303780 )
2018
9
Turner Syndrome: transition from childhood to adolescence. ( 29309748 )
2018
10
Lichenoid drug eruption in a child with Turner syndrome: A rare adverse reaction of recombinant human growth hormone. ( 29900541 )
2018
11
Current best practice in the management of Turner syndrome. ( 29344338 )
2018
12
Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations. ( 29438552 )
2018
13
Aortic root remodeling in a patient with Turner syndrome using the reference curves of aortic diameters in children. ( 29372397 )
2018
14
Cardiovascular risk in Turner syndrome. ( 29866389 )
2018
15
Normal Performance in Non-Visual Social Cognition Tasks in Women with Turner Syndrome. ( 29780353 )
2018
16
Determinants of Increased Aortic Diameters in Young Normotensive Patients With Turner Syndrome Without Structural Heart Disease. ( 29392348 )
2018
17
Executive Functions in Children and Adolescents with Turner Syndrome: A Systematic Review and Meta-Analysis. ( 29704077 )
2018
18
Brachial plexitis or neuritis? MRI features of lesion distribution in Parsonage-Turner syndrome. ( 29461642 )
2018
19
Inherited Deletion of 1q, Hyperparathyroidism, and Signs of Y-Chromosomal Influence in a Patient with Turner Syndrome. ( 29739732 )
2018
20
FSH may be a useful tool to allow early diagnosis of Turner syndrome. ( 29415703 )
2018
21
Systematic review of quality of life in Turner syndrome. ( 29427215 )
2018
22
Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization. ( 29793366 )
2018
23
Choroideremia in a Woman With Turner Syndrome. ( 29978195 )
2018
24
Hepatocellular Carcinoma, Virilization, and Hilus Cell Hyperplasia in a Girl With Turner Syndrome. ( 29732458 )
2018
25
Immunological Profile and Predisposition to Autoimmunity in Girls With Turner Syndrome. ( 29915563 )
2018
26
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. ( 29902804 )
2018
27
Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome. ( 29753544 )
2018
28
Transition of Care from Childhood to Adulthood: Turner Syndrome. ( 29886498 )
2018
29
Assessment of the key regulatory genes and their Interologs for Turner Syndrome employing network approach. ( 29973620 )
2018
30
Aortic elasticity deterioration proves intrinsic abnormality of the ascending aorta in pediatric Turner syndrome unrelated to the aortic valve morphology. ( 29777298 )
2018
31
Pheochromocytoma as a rare cause of hypertension in a 46 X, i(X)(q10) turner syndrome: a case report and literature review. ( 29747617 )
2018
32
Clinical and Echocardiographic Prevalence and Detection of Congenital and Acquired Cardiac Abnormalities in Girls and Women with the Turner Syndrome. ( 29731120 )
2018
33
MULTIMODAL IMAGING OF ANGIOID STREAKS ASSOCIATED WITH TURNER SYNDROME. ( 29443807 )
2018
34
Anesthesia management in a case of Turner syndrome with anti-NMDA limbic encephalitis and multiple co-morbidities for repair of fracture femur. ( 29739177 )
2018
35
Turner Syndrome: Diagnostic and Management Considerations for Perinatal Clinicians. ( 29406001 )
2018
36
A rare unbalanced Y:autosome translocation in a Turner syndrome patient. ( 29306927 )
2018
37
The predictive role of pelvic magnetic resonance in the follow up of spontaneous or induced puberty in turner syndrome. ( 29433553 )
2018
38
Atypical phenotypic aspects of autoimmune thyroid disorders in young patients with Turner syndrome. ( 29343299 )
2018
39
Pulmonary Vein Varices Are Syndromic Features in Turner Syndrome. ( 28463845 )
2017
40
Rebuttal: Adverse outcome of coarctation stenting in patients with Turner syndrome. ( 28417607 )
2017
41
Care of girls and women with Turner syndrome: beyond growth and hormones. ( 28336768 )
2017
42
Thyroid Autoimmunity in Girls with Turner Syndrome. ( 28456931 )
2017
43
Can Brain Natriuretic Peptides and Osteoprotegerin Serve As Biochemical Markers for the Detection of Aortic Pathology in Children and Adolescents with Turner Syndrome? ( 28725213 )
2017
44
Parsonage-Turner syndrome in a patient with bilateral shoulder pain: A case report. ( 29255532 )
2017
45
Audiometric features in young adults with Turner syndrome. ( 28420278 )
2017
46
Winging of the scapula diagnosed as Parsonage-Turner syndrome: a case report. ( 28853127 )
2017
47
Parsonage-Turner syndrome due to autochthonous acute genotype 3f hepatitis E virus infection in a nonimmunocompromised 55-year-old patient. ( 28439773 )
2017
48
Turner syndrome - growing pressure for more multidisciplinary clinics for adults and earlier diagnosis in children. ( 28862878 )
2017
49
Clinical features of women with Turner syndrome experiencing transition period in Japan. ( 28331102 )
2017
50
Letter: Phrenic Nerve Palsy Secondary to Parsonage-Turner Syndrome. ( 28260176 )
2017
Sources

Variations for Turner Syndrome

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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
Sources

Expression for Turner Syndrome

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

Pathways for Turner Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Development IGF-1 receptor signaling 22
Show member pathways
 11.53 IGF1 IGFBP1 IGFBP3
2
Endochondral Ossification 1
11.14 GH1 GHR IGF1
3
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 66
10.12 IGF1 IGFBP1 IGFBP3
4
Thyroxine (Thyroid Hormone) Production 1
9.73 TG TPO
Sources

GO Terms for Turner Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 BGLAP CGB3 GH1 GHR IGF1 IGFBP1
2 extracellular space GO:0005615 9.28 BGLAP CGB3 GH1 GHR IGF1 IGFBP1
3 insulin-like growth factor ternary complex GO:0042567 9.26 IGF1 IGFBP3
4 insulin-like growth factor binding protein complex GO:0016942 9.16 IGF1 IGFBP3
5 growth hormone receptor complex GO:0070195 8.96 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 9.61 GH1 GHR IGF1
3 positive regulation of JAK-STAT cascade GO:0046427 9.52 GH1 GHR
4 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.51 GH1 GHR
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.5 GH1 GHR IGF1
6 insulin-like growth factor receptor signaling pathway GO:0048009 9.48 GHR IGF1
7 hormone biosynthetic process GO:0042446 9.46 TG TPO
8 response to nutrient levels GO:0031667 9.43 BGLAP GH1 IGF1
9 growth hormone receptor signaling pathway GO:0060396 9.4 GH1 GHR
10 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.37 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

Sources for Turner Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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