MCID: PSD047
MIFTS: 21

Pseudo-Turner Syndrome

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

Aliases & Classifications for Pseudo-Turner Syndrome

MalaCards integrated aliases for Pseudo-Turner Syndrome:

Name: Pseudo-Turner Syndrome 52
Noonan Syndrome 71

Classifications:



External Ids:

UMLS 71 C0028326

Summaries for Pseudo-Turner Syndrome

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.

Related Diseases for Pseudo-Turner Syndrome

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

Symptoms & Phenotypes for Pseudo-Turner Syndrome

Drugs & Therapeutics for Pseudo-Turner Syndrome

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 Hypolipidemic Agents Phase 3
4 Anticholesteremic 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 Anticonvulsants Phase 2
16 Antipsychotic Agents Phase 2
17 Sodium Channel Blockers Phase 2
18 Psychotropic Drugs Phase 2
19 L 647318 Phase 2
20 Dihydromevinolin Phase 2
21 Diuretics, Potassium Sparing Phase 2
22 Central Nervous System Depressants Phase 2
23 Calcium, Dietary Phase 2
24 calcium channel blockers Phase 2
25 Hypoglycemic Agents Phase 2
26 insulin Phase 2
27 Insulin, Globin Zinc Phase 2
28 Mitogens Phase 2
29 Protective Agents
30 Fluorides
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

Genetic Tests for Pseudo-Turner Syndrome

Anatomical Context for Pseudo-Turner Syndrome

MalaCards organs/tissues related to Pseudo-Turner Syndrome:

40
Heart, Bone, Testes, Brain, Myeloid, Thyroid, Kidney

Publications for Pseudo-Turner Syndrome

Articles related to Pseudo-Turner Syndrome:

(show top 50) (show all 1540)
# Title Authors PMID Year
1
NRAS associated RASopathy and embryonal rhabdomyosarcoma. 61
31697451 2020
2
Development and structure-activity relationship study of SHP2 inhibitor containing 3,4,6-trihydroxy-5-oxo-5H-benzo[7]annulene. 61
31784318 2020
3
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome. 61
31566897 2019
4
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. 61
31837205 2019
5
Providing more evidence on LZTR1 variants in Noonan syndrome patients. 61
31825158 2019
6
Turner syndrome in diverse populations. 61
31854143 2019
7
Shp2 in myocytes is essential for cardiovascular and neointima development. 61
31634485 2019
8
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes. 61
31584751 2019
9
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome. 61
31292302 2019
10
The impact of RASopathy-associated mutations on CNS development in mice and humans. 61
31752929 2019
11
Noonan syndrome-associated myeloproliferative disorder with somatically acquired monosomy 7: impact on clinical decision making. 61
31617209 2019
12
Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants. 61
31182298 2019
13
RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype. 61
30761613 2019
14
Correlation between genetic heterogeneity and variability for response to growth hormone in Noonan syndrome. 61
31319646 2019
15
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
16
Proteomic Analysis of an Induced Pluripotent Stem Cell Model Reveals Strategies to Treat Juvenile Myelomonocytic Leukemia. 61
31657576 2019
17
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. 61
31219622 2019
18
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. 61
31560489 2019
19
Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy. 61
31737538 2019
20
Hypertrophic cardiomyopathy, long QT interval and coronary perforator disease in the Noonan syndrome. 61
31592851 2019
21
Phenotype delineation of ZNF462 related syndrome. 61
31361404 2019
22
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
23
Treatment of Children With GH in the United States and Europe: Long-Term Follow-Up From NordiNet® IOS and ANSWER Program. 61
31305924 2019
24
New Features for Child Metrics: Further Growth References and Blood Pressure Calculations 61
31475511 2019
25
Catalytic dysregulation of SHP2 leading to Noonan syndromes impacts on platelet signaling and functions. 61
31562133 2019
26
[Case report and diagnosis of Noonan syndrome with multiple lentigines with deafness as its main clinical feature]. 61
31446693 2019
27
[PTPN11 and the deafness]. 61
31446698 2019
28
Personality and Psychopathology in Adults with Noonan Syndrome. 61
31560100 2019
29
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
30
Case of Noonan Syndrome With an Expanding Coronary Arterial Aneurysm. 61
31451008 2019
31
LZTR1: Genotype Expansion in Noonan Syndrome. 61
31533111 2019
32
Cardiac transplantation in children with Noonan syndrome. 61
31259454 2019
33
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease. 61
31487937 2019
34
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. 61
31402090 2019
35
Structural basis of the atypical activation mechanism of KRASV14I. 61
31341022 2019
36
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
37
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
38
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis. 61
31145547 2019
39
Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation. 61
31355539 2019
40
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. 61
31059601 2019
41
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. 61
31173466 2019
42
Novel clinical phenotype of generalised lymphatic dysplasia in a neonate: a missed diagnosis. 61
31471355 2019
43
Noonan Syndrome Case Report: PTPN11 and Other Potential Genetic Factors Contributing to Lethal Hypertrophic Right Ventricular Cardiomyopathy. 61
30665336 2019
44
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations. 61
31277675 2019
45
Noonan syndrome with multiple lentigines and prominent keratosis pilaris. 61
31210391 2019
46
Investigating the reason for loss-of-function of Src homology 2 domain-containing protein tyrosine phosphatase 2 (SHP2) caused by Y279C mutation through molecular dynamics simulation. 61
31258001 2019
47
SHOC2 complex-driven RAF dimerization selectively contributes to ERK pathway dynamics. 61
31213532 2019
48
PTPN11 Gain-of-Function Mutations Affect the Developing Human Brain, Memory, and Attention. 61
30059958 2019
49
LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases. 61
31337872 2019
50
Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome. 61
31163979 2019

Variations for Pseudo-Turner Syndrome

Expression for Pseudo-Turner Syndrome

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

Pathways for Pseudo-Turner Syndrome

GO Terms for Pseudo-Turner Syndrome

Sources for Pseudo-Turner Syndrome

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
Content
Loading form....