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MCID: PSD047
MIFTS: 25

Pseudo-Turner Syndrome

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive 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 54
Noonan Syndrome 74

Classifications:

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


External Ids:

UMLS 74 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 Hormones have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and heart.

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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 11.6

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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 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2 Hormones Phase 3,Phase 2
3 Hormone Antagonists Phase 3
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
5 Anticholesteremic Agents Phase 3,Phase 2
6 Lipid Regulating Agents Phase 3,Phase 2
7 Antimetabolites Phase 3,Phase 2
8 Hypolipidemic Agents Phase 3,Phase 2
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3,Phase 2
10
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
11
Lamotrigine Approved, Investigational Phase 2 84057-84-1 3878
12
Mecasermin Approved, Investigational Phase 2 68562-41-4
13
Zinc Approved, Investigational Phase 2 7440-66-6 32051
14
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
15 Insulin, Globin Zinc Phase 2,Not Applicable
16 insulin Phase 2,Not Applicable
17 Hypoglycemic Agents Phase 2,Not Applicable
18 Central Nervous System Depressants Phase 2
19 calcium channel blockers Phase 2
20 Psychotropic Drugs Phase 2
21 Sodium Channel Blockers Phase 2
22 Calcium, Dietary Phase 2
23 Antipsychotic Agents Phase 2
24 Tranquilizing Agents Phase 2
25 Anticonvulsants Phase 2
26 L 647318 Phase 2
27 Dihydromevinolin Phase 2
28 Diuretics, Potassium Sparing Phase 2
29 Mitogens Phase 2

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome Completed NCT01927861 Phase 3 somatropin
2 Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome Completed NCT01529840 Phase 3 somatropin;somatropin
3 Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome Completed NCT00452725 Phase 3 MAXOMAT ®, biosynthetic growth hormone
4 Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 Completed NCT01529944 Phase 3 somatropin;somatropin
5 Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome Recruiting NCT02713945 Phase 3 Simvastatin;Placebo
6 Synaptic Plasticity and Cognitive Function in RASopathies Recruiting NCT03504501 Phase 2 Lovastatin;Lamotrigine
7 Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome Terminated NCT00351221 Phase 2 rhIGF-1/rhIGFBP-3
8 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
9 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Unknown status NCT02486731
10 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316 Not Applicable
11 Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin;somatropin
12 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
13 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:

42
Testes, Bone, Heart, Brain, Myeloid, Kidney, Thyroid
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Publications for Pseudo-Turner Syndrome

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Articles related to Pseudo-Turner Syndrome:

(show top 50) (show all 818)
# Title Authors Year
1
Oligo-astrocytoma in LZTR1-related Noonan syndrome. ( 30664951 )
2019
2
RALA mutation in a patient with autism spectrum disorder and Noonan syndrome like phenotype. ( 30761613 )
2019
3
Cardiac Arrest in a 31-Year-Old Man With Noonan Syndrome. ( 30700630 )
2019
4
Occurrence of high-grade glioma in Noonan syndrome: Report of two cases. ( 30693642 )
2019
5
Diverticular enlargement of the foramen of Luschka and hydrocephalus in a child with Noonan syndrome. ( 30822582 )
2019
6
Early prenatal detection of hypertrophic cardiomyopathy in Noonan syndrome: A case to remember. ( 30907043 )
2019
7
A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema. ( 30707178 )
2019
8
Noonan Syndrome Case Report: PTPN11 and Other Potential Genetic Factors Contributing to Lethal Hypertrophic Right Ventricular Cardiomyopathy. ( 30665336 )
2019
9
Noonan syndrome: Severe phenotype and PTPN11 mutations. ( 29703613 )
2019
10
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. ( 29907801 )
2019
11
Imaging of central lymphatic abnormalities in Noonan syndrome. ( 30613845 )
2019
12
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome. ( 30784236 )
2019
13
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. ( 30859559 )
2019
14
Social cognitive training for adults with Noonan syndrome: a feasibility study. ( 30880986 )
2019
15
ECG in noonan syndrome: beyond the "normal abnormalities". ( 30895763 )
2019
16
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis. ( 30898653 )
2019
17
A novel RIT1 mutation causes deterioration of Noonan syndrome-associated cardiac hypertrophy. ( 30904604 )
2019
18
Lymphangioma circumscriptum of the vulva in a patient with Noonan syndrome. ( 29232041 )
2018
19
Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome. ( 29670795 )
2018
20
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor. ( 29271604 )
2018
21
Noonan syndrome with multiple lentigines and associated craniosynostosis. ( 29356064 )
2018
22
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants. ( 29959388 )
2018
23
Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death. ( 29988639 )
2018
24
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome. ( 30157809 )
2018
25
Atypical coronary artery aneurysms due to Kawasaki disease in Noonan syndrome with a novel PTPN11 mutation. ( 30511597 )
2018
26
Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines. ( 30152106 )
2018
27
Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene. ( 30640061 )
2018
28
Myelodysplastic syndrome with multilineage dysplasia evolving to acute myeloid leukemia: Noonan syndrome with c.218C>T mutation in PTPN11 gene. ( 30378271 )
2018
29
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. ( 29737035 )
2018
30
Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome. ( 30631623 )
2018
31
Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1. ( 29914349 )
2018
32
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. ( 28957739 )
2018
33
Psychopathological features in Noonan syndrome. ( 29037749 )
2018
34
Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients. ( 29109363 )
2018
35
Noonan syndrome: an update on growth and development. ( 29120925 )
2018
36
Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome. ( 29226542 )
2018
37
Preoperative Detailed Coagulation Tests Are Required in Patients With Noonan Syndrome. ( 29362165 )
2018
38
Mutation in the ADNP gene associated with Noonan syndrome features. ( 29424797 )
2018
39
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. ( 29469822 )
2018
40
First-year growth in children with Noonan syndrome: Associated with feeding problems? ( 29575624 )
2018
41
DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report. ( 29642153 )
2018
42
Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth. ( 29659837 )
2018
43
Central xanthoma of the jaw in association with Noonan syndrome. ( 29727697 )
2018
44
Giant cell lesion of the jaw as a presenting feature of Noonan syndrome. ( 29848529 )
2018
45
Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients. ( 29948256 )
2018
46
Oskar Kobyliński (1856-1926) and the first description of Noonan syndrome in the medical literature. ( 29998749 )
2018
47
Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report. ( 30012103 )
2018
48
Cardiovascular disease in Noonan syndrome. ( 30024444 )
2018
49
A genome-wide analysis of colorectal cancer in a child with Noonan syndrome. ( 30039904 )
2018
50
Correction: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. ( 30050098 )
2018
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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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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