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MCID: PSD047
MIFTS: 21

Pseudo-Turner Syndrome

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
Tissues Related diseases Publications Drugs
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Aliases & Classifications for Pseudo-Turner Syndrome

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MalaCards integrated aliases for Pseudo-Turner Syndrome:

Name: Pseudo-Turner Syndrome 52
Noonan Syndrome 71

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Reproductive diseases Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C0028326
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Summaries for Pseudo-Turner Syndrome

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MalaCards based summary : Pseudo-Turner Syndrome, also known as noonan syndrome, is related to noonan syndrome 1. The drugs Simvastatin and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and testes.

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Related Diseases for Pseudo-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 Pseudo-Turner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 11.8

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Symptoms & Phenotypes for Pseudo-Turner Syndrome

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Drugs & Therapeutics for Pseudo-Turner Syndrome

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2 Hormone Antagonists Phase 3
3 Anticholesteremic Agents Phase 3
4 Hypolipidemic Agents Phase 3
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
6 Antimetabolites Phase 3
7 Lipid Regulating Agents Phase 3
8
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
9
Lamotrigine Approved, Investigational Phase 2 84057-84-1 3878
10
Zinc Approved, Investigational Phase 2 7440-66-6 32051
11
Mecasermin Approved, Investigational Phase 2 68562-41-4
12
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
13 Hormones Phase 2
14 Tranquilizing Agents Phase 2
15 Antipsychotic Agents Phase 2
16 Dihydromevinolin Phase 2
17 Psychotropic Drugs Phase 2
18 Anticonvulsants Phase 2
19 Central Nervous System Depressants Phase 2
20 Calcium, Dietary Phase 2
21 calcium channel blockers Phase 2
22 Sodium Channel Blockers Phase 2
23 L 647318 Phase 2
24 Diuretics, Potassium Sparing Phase 2
25 Mitogens Phase 2
26 Hypoglycemic Agents Phase 2
27 Insulin, Globin Zinc Phase 2
28 insulin Phase 2
29 Fluorides
30 Protective Agents
31 Cariostatic Agents

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A 52-week, Multi-centre, Randomised, Double-blind, Parallel-group, no Treatment Controlled (Open-label) Trial Investigating the Efficacy and Safety of Two Doses of NN-220 in Short Stature With Noonan Syndrome Completed NCT01927861 Phase 3 somatropin
2 Effect of the Growth Hormone MAXOMAT ® on the Growth of Small Children and Adolescents (<-2 SD) Due to NOONAN's Syndrome Completed NCT00452725 Phase 3 MAXOMAT ®, biosynthetic growth hormone
3 Genetic Testing of Noonan Subjects Previously Treated With Norditropin® in the GHNOO-1658 Trial Completed NCT01529944 Phase 3 somatropin;somatropin
4 Norditropin Treatment in Subjects With Noonan Syndrome. Effects on Linear Growth and Final Height - Data Collection and Follow-up Visit Completed NCT01529840 Phase 3 somatropin;somatropin
5 Treatment With HMG-COA Reductase Inhibitor (Simvastatin) of Growth and Bone Abnormalities in Children With Noonan Syndrome: A Phase III Randomised, Double Blind, Placebo-controlled Therapeutic Trial Recruiting NCT02713945 Phase 3 Simvastatin;Placebo
6 Improvement of Synaptic Plasticity and Cognitive Function in RAS Pathway Disorders Recruiting NCT03504501 Phase 2 Lovastatin;Lamotrigine
7 A Phase 2, Open-Label, Multicenter, Clinical Trial to Evaluate the Pharmacokinetics, Safety and Efficacy of Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 in Children With Growth Failure Due to Noonan Syndrome Terminated NCT00351221 Phase 2 rhIGF-1/rhIGFBP-3
8 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
9 Consequences of Noonan Syndrome/LEOPARD Syndrome Associated Shp2 Mutations on Different Signaling Pathways Activation: Relationship With Hormonal Sensitivity Unknown status NCT02486731
10 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316
11 NordiNet® International Outcome Study-Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin;somatropin
12 Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With Neurofibromatosis Type 1 Completed NCT01058330
13 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
14 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
15 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Enrolling by invitation NCT03435627 Somatropin

Search NIH Clinical Center for Pseudo-Turner Syndrome

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Genetic Tests for Pseudo-Turner Syndrome

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Anatomical Context for Pseudo-Turner Syndrome

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MalaCards organs/tissues related to Pseudo-Turner Syndrome:

40
Heart, Bone, Testes, Brain, Myeloid, Thyroid, Kidney
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Publications for Pseudo-Turner Syndrome

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Articles related to Pseudo-Turner Syndrome:

(show top 50) (show all 1551)
# Title Authors PMID Year
1
De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation. 61
31976149 2020
2
Hypertrophic cardiomyopathy, long QT interval and coronary perforator disease in the Noonan syndrome. 61
31592851 2020
3
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. 61
31837205 2020
4
Providing more evidence on LZTR1 variants in Noonan syndrome patients. 61
31825158 2020
5
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment. 61
32022400 2020
6
Turner syndrome in diverse populations. 61
31854143 2020
7
Design, synthesis, biological evaluation, Common feature pharmacophore model and molecular dynamics simulation studies of ethyl 4-(phenoxymethyl)-2-phenylthiazole-5-carboxylate as Src Homology-2 Domain Containing Protein Tyrosine Phosphatase-2 (SHP2) inhibitors. 61
32036779 2020
8
Unveiling the Molecular Basis of the Noonan Syndrome-Causing Mutation T42A of SHP2. 61
31936901 2020
9
LZTR1-related Hypertrophic Cardiomyopathy without Typical Noonan Syndrome Features. 61
32004086 2020
10
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant. 61
32021610 2020
11
NRAS associated RASopathy and embryonal rhabdomyosarcoma. 61
31697451 2020
12
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. 61
31913576 2020
13
Surgical repair of peripheral pulmonary artery stenosis in patients without williams or alagille syndromes. 61
31958550 2020
14
Oligo-astrocytoma in LZTR1-related Noonan syndrome. 61
30664951 2020
15
Development and structure-activity relationship study of SHP2 inhibitor containing 3,4,6-trihydroxy-5-oxo-5H-benzo[7]annulene. 61
31784318 2020
16
After 95 years, it's time to eRASe JMML. 61
31980238 2020
17
A cellular target engagement assay for the characterization of SHP2 (PTPN11) phosphatase inhibitors. 61
31953320 2020
18
Proteomic Analysis of an Induced Pluripotent Stem Cell Model Reveals Strategies to Treat Juvenile Myelomonocytic Leukemia. 61
31657576 2020
19
Catalytic dysregulation of SHP2 leading to Noonan syndromes affects platelet signaling and functions. 61
31562133 2019
20
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome. 61
31566897 2019
21
Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish. 61
31883238 2019
22
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes. 61
31584751 2019
23
Shp2 in myocytes is essential for cardiovascular and neointima development. 61
31634485 2019
24
Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants. 61
31182298 2019
25
Noonan syndrome-associated myeloproliferative disorder with somatically acquired monosomy 7: impact on clinical decision making. 61
31617209 2019
26
RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype. 61
30761613 2019
27
Correlation between genetic heterogeneity and variability for response to growth hormone in Noonan syndrome. 61
31319646 2019
28
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome. 61
31292302 2019
29
The impact of RASopathy-associated mutations on CNS development in mice and humans. 61
31752929 2019
30
MRAS Variants Cause Cardiomyocyte Hypertrophy in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Additional Evidence for MRAS as a Definitive Noonan Syndrome-Susceptibility Gene. 61
31638832 2019
31
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. 61
31219622 2019
32
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. 61
31560489 2019
33
Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy. 61
31737538 2019
34
Phenotype delineation of ZNF462 related syndrome. 61
31361404 2019
35
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review. 61
31368652 2019
36
Treatment of Children With GH in the United States and Europe: Long-Term Follow-Up From NordiNet® IOS and ANSWER Program. 61
31305924 2019
37
New Features for Child Metrics: Further Growth References and Blood Pressure Calculations 61
31475511 2019
38
Personality and Psychopathology in Adults with Noonan Syndrome. 61
31560100 2019
39
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature. 61
31336229 2019
40
[Case report and diagnosis of Noonan syndrome with multiple lentigines with deafness as its main clinical feature]. 61
31446693 2019
41
[PTPN11 and the deafness]. 61
31446698 2019
42
Case of Noonan Syndrome With an Expanding Coronary Arterial Aneurysm. 61
31451008 2019
43
Cardiac transplantation in children with Noonan syndrome. 61
31259454 2019
44
LZTR1: Genotype Expansion in Noonan Syndrome. 61
31533111 2019
45
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease. 61
31487937 2019
46
Structural basis of the atypical activation mechanism of KRASV14I. 61
31341022 2019
47
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. 61
31402090 2019
48
Sudden cardiac arrest in the field in an 18-year-old male athlete with Noonan syndrome: case presentation and 5-year follow-up. 61
31378211 2019
49
Noonan syndrome associated with anomalous left coronary artery from the pulmonary artery in a patient with the rare RAF1 mutation: A case report and review of literature. 61
31516287 2019
50
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis. 61
31145547 2019
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Variations for Pseudo-Turner Syndrome

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Expression for Pseudo-Turner Syndrome

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Search GEO for disease gene expression data for Pseudo-Turner Syndrome.
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Pathways for Pseudo-Turner Syndrome

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GO Terms for Pseudo-Turner Syndrome

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Sources for Pseudo-Turner Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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