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MCID: PSD047
MIFTS: 52

Pseudo-Turner Syndrome

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways 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 20 6
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 and struma ovarii. An important gene associated with Pseudo-Turner Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. The drugs Simvastatin and Hormones have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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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:

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 28.4 SOS2 SOS1 SHOC2 RRAS2 RIT1 RAF1
2 struma ovarii 10.4 KRAS BRAF
3 urachal adenocarcinoma 10.4 KRAS BRAF
4 apocrine adenoma 10.4 KRAS BRAF
5 melphalan allergy 10.4 NRAS BRAF
6 serrated polyposis syndrome 10.3 KRAS BRAF
7 ovarian melanoma 10.3 NRAS MAP2K1
8 syringocystadenoma papilliferum 10.3 KRAS BRAF
9 pyogenic granuloma 10.3 NRAS KRAS
10 endosalpingiosis 10.3 KRAS BRAF
11 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.3 PTPN11 CBL
12 rosai-dorfman disease 10.2 MAP2K1 KRAS BRAF
13 leopard syndrome 2 10.2 RAF1 PTPN11
14 hepatic flexure cancer 10.2 KRAS HRAS
15 trachea carcinoma in situ 10.2 KRAS HRAS
16 signet ring basal cell carcinoma 10.2 KRAS HRAS
17 cobblestone retinal degeneration 10.2 KRAS HRAS
18 immature teratoma of ovary 10.2 KRAS HRAS
19 langerhans cell histiocytosis 10.2 NRAS MAP2K1 BRAF
20 histiocytosis 10.2 NRAS MAP2K1 BRAF
21 spitz nevus 10.2 HRAS BRAF
22 descending colon cancer 10.2 KRAS HRAS
23 ampulla of vater neoplasm 10.2 KRAS HRAS
24 transverse colon cancer 10.2 KRAS HRAS
25 periampullary adenoma 10.2 KRAS HRAS
26 pulmonic stenosis 10.2 SOS1 BRAF
27 meningeal melanomatosis 10.2 NRAS HRAS
28 appendiceal neoplasm 10.2 KRAS HRAS
29 gallbladder benign neoplasm 10.2 KRAS HRAS
30 adenosquamous lung carcinoma 10.2 KRAS HRAS
31 villonodular synovitis 10.2 SOS1 PTPN11
32 pilomyxoid astrocytoma 10.2 RAF1 KRAS BRAF
33 appendix adenocarcinoma 10.2 KRAS HRAS
34 malignant anus melanoma 10.2 NRAS HRAS
35 conjunctival nevus 10.2 NRAS HRAS
36 mucinous lung adenocarcinoma 10.2 KRAS HRAS
37 malignant dermis tumor 10.2 NRAS HRAS
38 lentigines 10.2 RAF1 PTPN11 BRAF
39 central nervous system melanocytic neoplasm 10.2 NRAS HRAS
40 thyroid carcinoma, familial medullary 10.2 RAF1 KRAS BRAF
41 malignant skin fibrous histiocytoma 10.2 NRAS HRAS
42 wolffian duct adenocarcinoma 10.2 KRAS HRAS
43 myh-associated polyposis 10.2 KRAS HRAS
44 vulvar melanoma 10.2 NRAS HRAS
45 leopard syndrome 1 10.2 RAF1 PTPN11 BRAF
46 ascending colon cancer 10.2 KRAS HRAS
47 biliary tract benign neoplasm 10.2 KRAS HRAS
48 ovarian mucinous neoplasm 10.2 KRAS HRAS
49 malignant exocrine pancreas neoplasm 10.2 KRAS HRAS
50 pancreatic acinar cell adenocarcinoma 10.1 KRAS HRAS

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



Diseases related to Pseudo-Turner Syndrome
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Symptoms & Phenotypes for Pseudo-Turner Syndrome

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

26 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.32 SOS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.32 BRAF
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.32 CBL
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10.32 PTPN11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10.32 SOS1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.32 PTPN11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 10.32 CBL
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 10.32 PTPN11
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.32 CBL
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.32 CBL
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10.32 PTPN11 RAF1 SOS1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10.32 RAF1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.32 BRAF
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.32 BRAF
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.32 PTPN11
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 10.32 BRAF
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.32 SOS1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.32 RAF1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 10.32 BRAF
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.32 BRAF
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 10.32 BRAF
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 10.32 PTPN11
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.32 CBL
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.32 CBL
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 10.32 PTPN11
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.32 SOS1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.32 BRAF
28 Decreased viability GR00055-A-1 10.21 CBL HRAS BRAF KRAS
29 Decreased viability GR00055-A-2 10.21 CBL HRAS BRAF KRAS
30 Decreased viability GR00055-A-3 10.21 KRAS
31 Decreased viability GR00106-A-0 10.21 KRAS
32 Decreased viability GR00107-A-1 10.21 MAP2K1
33 Decreased viability GR00221-A-1 10.21 HRAS NRAS KRAS
34 Decreased viability GR00221-A-2 10.21 CBL HRAS KRAS
35 Decreased viability GR00221-A-3 10.21 CBL HRAS MAP2K1 NRAS
36 Decreased viability GR00221-A-4 10.21 BRAF
37 Decreased viability GR00249-S 10.21 BRAF
38 Decreased viability GR00301-A 10.21 BRAF KRAS
39 Decreased viability GR00381-A-1 10.21 BRAF KRAS
40 Decreased cell migration GR00055-A-1 9.91 SOS1 MAP2K2
41 Decreased cell migration GR00055-A-3 9.91 BRAF CBL HRAS
42 Reduced mammosphere formation GR00396-S 9.28 BRAF HRAS KRAS NRAS PPP1CB PTPN11

MGI Mouse Phenotypes related to Pseudo-Turner Syndrome:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
2 growth/size/body region MP:0005378 10.32 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
3 craniofacial MP:0005382 10.3 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
4 cellular MP:0005384 10.27 BRAF CBL KRAS MAP2K1 MAP2K2 NRAS
5 homeostasis/metabolism MP:0005376 10.26 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
6 mortality/aging MP:0010768 10.25 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
7 endocrine/exocrine gland MP:0005379 10.22 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
8 digestive/alimentary MP:0005381 10.2 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
9 integument MP:0010771 10.2 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
10 embryo MP:0005380 10.14 BRAF KRAS MAP2K1 NRAS PTPN11 RAF1
11 hearing/vestibular/ear MP:0005377 10.04 BRAF CBL KRAS MAP2K1 MAP2K2 PTPN11
12 neoplasm MP:0002006 10.02 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
13 normal MP:0002873 10.02 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
14 muscle MP:0005369 9.95 BRAF CBL HRAS KRAS PTPN11 RAF1
15 respiratory system MP:0005388 9.7 BRAF CBL HRAS KRAS PTPN11 RAF1
16 pigmentation MP:0001186 9.65 BRAF CBL KRAS NRAS PTPN11
17 skeleton MP:0005390 9.65 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
18 vision/eye MP:0005391 9.36 BRAF CBL KRAS MAP2K1 MAP2K2 NRAS
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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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2 Hormones Phase 3
3 Hormone Antagonists Phase 3
4 Lipid Regulating Agents Phase 3
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
6 Hypolipidemic Agents Phase 3
7 Antimetabolites Phase 3
8 Anticholesteremic Agents Phase 3
9
Mecasermin Approved, Investigational Phase 2 68562-41-4
10 Insulin, Globin Zinc Phase 2
11 Mitogens Phase 2
12 insulin Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Genetic Testing of Noonan Subjects Previously Treated With Norditropin® in the GHNOO-1658 Trial Completed NCT01529944 Phase 3 somatropin;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 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
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 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
7 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
8 Consequences of Noonan Syndrome/LEOPARD Syndrome Associated Shp2 Mutations on Different Signaling Pathways Activation: Relationship With Hormonal Sensitivity Unknown status NCT02486731
9 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316
10 NordiNet® International Outcome Study-Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin;somatropin
11 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
12 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
13 Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies. Recruiting NCT04395495
14 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Active, not recruiting 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
Myeloid, Bone, Eye, Cortex, Breast, Endothelial, Pituitary
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Publications for Pseudo-Turner Syndrome

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Articles related to Pseudo-Turner Syndrome:

(show top 50) (show all 1663)
# Title Authors PMID Year
1
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders. 61
33354767 2021
2
PTPN11 Mutations in the Ras-MAPK Signaling Pathway Affect Human White Matter Microstructure. 61
33119062 2021
3
Hashimoto's Thyroiditis and Graves' Disease in Genetic Syndromes in Pediatric Age. 61
33557156 2021
4
The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning. 61
33554457 2021
5
Noonan syndrome patient-specific induced cardiomyocyte model carrying SOS1 gene variant c.1654A>G. 61
33549576 2021
6
Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity. 61
33011209 2021
7
How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. 61
33468338 2021
8
Chiari I malformation in patients with RASopathies. 61
33409618 2021
9
Craniofacial and occlusal features of children with Noonan syndrome. 61
33438808 2021
10
Recognition Memory in Noonan Syndrome. 61
33572736 2021
11
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations. 61
32989268 2021
12
Targeted Ptpn11 deletion in mice reveals the essential role of SHP2 in osteoblast differentiation and skeletal homeostasis. 61
33500396 2021
13
A case of Noonan syndrome with skull defect due to vitamin D deficiency rickets. 61
33446957 2021
14
A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review. 61
33407364 2021
15
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. 61
32788663 2021
16
Concomitant septal myectomy and mitral valve repair in a child with Noonan syndrome. 61
33489184 2021
17
Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway. 61
33479580 2021
18
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported. 61
33491856 2021
19
Mutation and Phenotypic Spectrum of Patients With RASopathies. 61
33452774 2021
20
Scaffold-based selective SHP2 inhibitors design using core hopping, molecular docking, biological evaluation and molecular simulation. 61
33113413 2020
21
M-Ras is Muscle-Ras, Moderate-Ras, Mineral-Ras, Migration-Ras, and Many More-Ras. 61
33130177 2020
22
Diagnosis of a giant left atrial appendage aneurysm by contrast-enhanced echocardiography: Case report and literature review. 61
33301199 2020
23
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. 61
33128510 2020
24
Detecting physical abilities through smartphone sensors: an assistive technology application. 61
33258392 2020
25
Aplasia cutis congenita in a CDC42-related developmental phenotype. 61
33283961 2020
26
Induction of Noonan syndrome-specific human-induced pluripotent stem cells under serum-, feeder-, and integration-free conditions. 61
33140329 2020
27
Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines. 61
33318624 2020
28
Severe Cardiopulmonary Disease in a Parturient With Noonan Syndrome. 61
32746732 2020
29
Primary pulmonary lymphangiectasia in Noonan syndrome: apropos of an extremely rare manifestation and a brief literature review. 61
33305557 2020
30
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia. 61
33300679 2020
31
Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation. 61
33219052 2020
32
Rapid progression of mitral valve disease in a child with Noonan syndrome. 61
32985405 2020
33
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile. 61
33382187 2020
34
Management of challenging radioiodine treatment protocols: a case series and review of the literature. 61
33219159 2020
35
Phosphatase-independent functions of SHP2 and its regulation by small molecule compounds. 61
32921395 2020
36
Multimodality lymphatic imaging of postoperative chylothorax in an infant with Noonan syndrome: a case report. 61
33148331 2020
37
Oskar Kobyliński (1856-1926) and the first description of Noonan syndrome in the medical literature. 61
29998749 2020
38
Young children with Noonan syndrome: evaluation of feeding problems. 61
32394265 2020
39
An allosteric interaction controls the activation mechanism of SHP2 tyrosine phosphatase. 61
33116231 2020
40
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. 61
32502478 2020
41
Clinical and molecular spectra of BRAF-associated RASopathy. 61
33040082 2020
42
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. 61
33082526 2020
43
A 16 Years Young Girl with Noonan Syndrome. 61
33116109 2020
44
Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model? 61
32514133 2020
45
Noonan Syndrome in Thai Children. 61
33089815 2020
46
Peripheral pulmonary stenosis with Noonan syndrome treated by balloon pulmonary angioplasty. 61
33240484 2020
47
Germline predisposition to genitourinary rhabdomyosarcoma. 61
33209717 2020
48
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy. 61
32870709 2020
49
The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing. 61
33067218 2020
50
CD14/16 monocyte profiling in juvenile myelomonocytic leukemia. 61
32648963 2020
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Variations for Pseudo-Turner Syndrome

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ClinVar genetic disease variations for Pseudo-Turner Syndrome:

6 (show top 50) (show all 609)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) SNV Pathogenic 13969 rs121913369 7:140453146-140453146 7:140753346-140753346
2 PTPN11 NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala) SNV Pathogenic 40556 rs121918458 12:112926884-112926884 12:112489080-112489080
3 PTPN11 NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) SNV Pathogenic 13332 rs121918458 12:112926884-112926884 12:112489080-112489080
4 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val) SNV Pathogenic 40470 rs121913237 1:115258747-115258747 1:114716126-114716126
5 PTPN11 NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) SNV Pathogenic 40551 rs397507540 12:112926852-112926852 12:112489048-112489048
6 PTPN11 NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) SNV Pathogenic 40555 rs397507543 12:112926882-112926882 12:112489078-112489078
7 PTPN11 NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) SNV Pathogenic 40557 rs397507544 12:112926885-112926885 12:112489081-112489081
8 BRAF NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) SNV Pathogenic 13965 rs180177034 7:140501336-140501336 7:140801536-140801536
9 PTPN11 NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) SNV Pathogenic 40488 rs397507506 12:112888158-112888158 12:112450354-112450354
10 PTPN11 NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) SNV Pathogenic 40493 rs397507509 12:112888163-112888163 12:112450359-112450359
11 PTPN11 NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu) Indel Pathogenic 44604 rs397516802 12:112888201-112888202 12:112450397-112450398
12 PTPN11 NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp) SNV Pathogenic 40503 rs397507514 12:112888212-112888212 12:112450408-112450408
13 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV Pathogenic 40502 rs397507514 12:112888212-112888212 12:112450408-112450408
14 PTPN11 NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) SNV Pathogenic 40507 rs397507518 12:112888312-112888312 12:112450508-112450508
15 PTPN11 NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) SNV Pathogenic 40533 rs121918463 12:112915455-112915455 12:112477651-112477651
16 PTPN11 NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) SNV Pathogenic 44615 rs397516810 12:112915456-112915456 12:112477652-112477652
17 PTPN11 NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) SNV Pathogenic 40535 rs121918455 12:112915524-112915524 12:112477720-112477720
18 RAF1 NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser) SNV Pathogenic 40599 rs397516826 3:12645701-12645701 3:12604202-12604202
19 RAF1 NM_001354689.3(RAF1):c.781C>A (p.Pro261Thr) SNV Pathogenic 40604 rs121434594 3:12645688-12645688 3:12604189-12604189
20 RAF1 NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg) SNV Pathogenic 40606 rs397516828 3:12645687-12645687 3:12604188-12604188
21 RAF1 NM_001354689.3(RAF1):c.786T>A (p.Asn262Lys) SNV Pathogenic 44634 rs397516829 3:12645683-12645683 3:12604184-12604184
22 RAF1 NM_001354689.3(RAF1):c.524A>G (p.His175Arg) SNV Pathogenic 40594 rs397516822 3:12650322-12650322 3:12608823-12608823
23 BRAF NM_001374258.1(BRAF):c.1922A>C (p.Lys641Thr) SNV Pathogenic 44818 rs397507484 7:140453133-140453133 7:140753333-140753333
24 BRAF NM_001374258.1(BRAF):c.722C>A (p.Thr241Lys) SNV Pathogenic 44829 rs387906660 7:140501350-140501350 7:140801550-140801550
25 SOS1 NM_005633.3(SOS1):c.1297G>A (p.Glu433Lys) SNV Pathogenic 40669 rs397517147 2:39250272-39250272 2:39023131-39023131
26 SOS1 NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) SNV Pathogenic 40672 rs397517148 2:39250269-39250269 2:39023128-39023128
27 SOS1 NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) SNV Pathogenic 45345 rs397517150 2:39250259-39250259 2:39023118-39023118
28 SOS1 NM_005633.3(SOS1):c.1649T>C (p.Leu550Pro) SNV Pathogenic 40680 rs397517153 2:39249920-39249920 2:39022779-39022779
29 SOS1 NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) SNV Pathogenic 40684 rs267607079 2:39249913-39249913 2:39022772-39022772
30 SOS1 NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) SNV Pathogenic 40699 rs397517156 2:39239474-39239474 2:39012333-39012333
31 SOS1 NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) SNV Pathogenic 40706 rs397517159 2:39234309-39234309 2:39007168-39007168
32 KRAS NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic 45115 rs121913240 12:25380276-25380276 12:25227342-25227342
33 CBL NM_005188.4(CBL):c.1096-1G>C SNV Pathogenic 45196 rs397517076 11:119148875-119148875 11:119278165-119278165
34 SOS1 NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) SNV Pathogenic 40649 rs397517164 2:39285837-39285837 2:39058696-39058696
35 SOS1 NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) SNV Pathogenic 12869 rs137852812 2:39278352-39278352 2:39051211-39051211
36 SOS1 NM_005633.3(SOS1):c.925G>T (p.Asp309Tyr) SNV Pathogenic 45379 rs397517180 2:39262581-39262581 2:39035440-39035440
37 SOS1 NM_005633.3(SOS1):c.508A>G (p.Lys170Glu) SNV Pathogenic 40651 rs397517172 2:39283845-39283845 2:39056704-39056704
38 PTPN11 NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) SNV Pathogenic 164998 rs727503381 12:112892440-112892440 12:112454636-112454636
39 KRAS NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) SNV Pathogenic 163758 rs397517042 12:25362830-25362830 12:25209896-25209896
40 KRAS NM_004985.5(KRAS):c.214A>T (p.Met72Leu) SNV Pathogenic 179141 rs727504662 12:25380244-25380244 12:25227310-25227310
41 RAF1 NM_001354689.3(RAF1):c.769T>C (p.Ser257Pro) SNV Pathogenic 40600 rs727505017 3:12645700-12645700 3:12604201-12604201
42 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV Pathogenic 40558 rs397507545 12:112926887-112926887 12:112489083-112489083
43 PTPN11 NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) SNV Pathogenic 13336 rs121918464 12:112888210-112888210 12:112450406-112450406
44 SOS1 NM_005633.3(SOS1):c.2104T>C (p.Tyr702His) SNV Pathogenic 40696 rs727505381 2:39240664-39240664 2:39013523-39013523
45 SOS1 NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) SNV Pathogenic 12871 rs137852814 2:39249915-39249915 2:39022774-39022774
46 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) SNV Pathogenic 13334 rs121918462 12:112888202-112888202 12:112450398-112450398
47 PTPN11 NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) SNV Pathogenic 40552 rs397507540 12:112926852-112926852 12:112489048-112489048
48 PTPN11 NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) SNV Pathogenic 13332 rs121918458 12:112926884-112926884 12:112489080-112489080
49 SOS1 NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) SNV Pathogenic 12872 rs267607079 2:39249913-39249913 2:39022772-39022772
50 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) SNV Pathogenic 13324 rs121918453 12:112888198-112888198 12:112450394-112450394
Sources

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

(show top 50) (show all 227)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 65
Show member pathways
 14.33 SOS2 SOS1 RIT1 RAF1 PTPN11 PPP1CB
2
Innate Immune System 65
Show member pathways
 14.13 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
3
Apoptotic Pathways in Synovial Fibroblasts 63
Show member pathways
 14.03 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
4
ERK Signaling 63
Show member pathways
 14.02 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
5
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 65
Show member pathways
 13.98 SOS2 SOS1 RAF1 PPP1CB NRAS MAP2K2
6
HIV Life Cycle 65
Show member pathways
 13.89 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
7
GPCR Pathway 63
Show member pathways
 13.88 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
8
PEDF Induced Signaling 63
Show member pathways
 13.86 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
9
TGF-Beta Pathway 63
Show member pathways
 13.78 SOS2 SOS1 RRAS2 RAF1 PTPN11 NRAS
10
Activation of cAMP-Dependent PKA 63
Show member pathways
 13.76 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
11
Developmental Biology 65
Show member pathways
 13.71 SOS2 SOS1 RAF1 PTPN11 NRAS MAP2K2
12
Integrin Pathway 63
Show member pathways
 13.66 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
13
Cytokine Signaling in Immune system 65
Show member pathways
 13.6 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
14
Pathways of neurodegeneration - multiple diseases 36
Show member pathways
 13.57 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
15
Class I MHC mediated antigen processing and presentation 65
Show member pathways
 13.57 SOS1 RAF1 PTPN11 NRAS KRAS HRAS
16
CREB Pathway 63
Show member pathways
 13.57 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
17
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.54 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
18
Akt Signaling 63
Show member pathways
 13.53 SOS2 SOS1 RRAS2 RAF1 NRAS KRAS
19
IL-2 Pathway 63
Show member pathways
 13.48 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
20
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.4 SOS1 RAF1 PTPN11 NRAS KRAS HRAS
21
PAK Pathway 63
Show member pathways
 13.39 RRAS2 PTPN11 PPP1CB NRAS KRAS HRAS
22
Phospholipase-C Pathway 63
Show member pathways
 13.36 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
23
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.33 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
24
TNFR1 Pathway 63
Show member pathways
 13.32 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
25
p70S6K Signaling 63
Show member pathways
 13.32 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
26
G-Beta Gamma Signaling 63
Show member pathways
 13.32 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
27
PI3K-Akt signaling pathway 36
Show member pathways
 13.24 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
28
TCR Signaling (Qiagen) 63
Show member pathways
 13.21 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
29
Human cytomegalovirus infection 36
Show member pathways
 13.2 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
30
Sertoli-Sertoli Cell Junction Dynamics 63
Show member pathways
 13.19 RRAS2 RAF1 NRAS MAP2K2 MAP2K1 KRAS
31
Focal Adhesion 36 1
Show member pathways
 13.19 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
32
CCR5 Pathway in Macrophages 63
Show member pathways
 13.18 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K1
33
NFAT and Cardiac Hypertrophy 63
Show member pathways
 13.17 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
34
DAG and IP3 signaling 65
Show member pathways
 13.16 PTPN11 PPP1CB NRAS KRAS HRAS
35
Pathways in cancer 36
13.16 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
36
Endometrial cancer 36
Show member pathways
 13.16 SOS2 SOS1 RAF1 PTPN11 NRAS MAP2K2
37
Sweet Taste Signaling 63
Show member pathways
 13.14 RAF1 PPP1CB MAP2K2 MAP2K1 BRAF
38
Development Angiotensin activation of ERK 23
Show member pathways
 13.14 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
39
Aldosterone synthesis and secretion 36
Show member pathways
 13.13 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
40
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 64
Show member pathways
 13.09 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
41
Gastric cancer 36
Show member pathways
 13.07 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
42
MAPK signaling pathway 36 1
13.07 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
43
Beta-Adrenergic Signaling 63
Show member pathways
 13.07 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
44
Glioma 36
Show member pathways
 12.99 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
45
Downstream signaling of activated FGFR2 65
Show member pathways
 12.98 SOS1 PTPN11 NRAS KRAS HRAS
46
Relaxin signaling pathway 36
Show member pathways
 12.97 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
47
4-1BB Pathway 63
Show member pathways
 12.97 RRAS2 RAF1 NRAS MAP2K2 MAP2K1 KRAS
48
Development Endothelin-1/EDNRA signaling 23
Show member pathways
 12.97 SOS2 SOS1 RAF1 PPP1CB NRAS MAP2K2
49
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.94 SOS1 PTPN11 NRAS KRAS HRAS CBL
50
Toll-Like receptor Signaling Pathways 64
Show member pathways
 12.94 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
Sources

GO Terms for Pseudo-Turner Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10 SOS1 RRAS2 RIT1 RAF1 PPP1CB NRAS
2 cytosol GO:0005829 9.73 SOS2 SOS1 SHOC2 RAF1 PTPN11 PPP1CB
3 Golgi apparatus GO:0005794 9.7 RRAS2 RAF1 NRAS MAP2K2 MAP2K1 HRAS
4 protein phosphatase type 1 complex GO:0000164 9.32 SHOC2 PPP1CB
5 focal adhesion GO:0005925 9.1 RRAS2 PPP1CB MAP2K2 MAP2K1 KRAS CBL

Biological processes related to Pseudo-Turner Syndrome according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.91 SOS1 PTPN11 KRAS CBL
2 signal transduction GO:0007165 9.9 SOS1 SHOC2 RRAS2 RIT1 RAF1 NRAS
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.84 PTPN11 MAP2K1 HRAS BRAF
4 peptidyl-tyrosine phosphorylation GO:0018108 9.82 MAP2K2 MAP2K1 BRAF
5 activation of MAPK activity GO:0000187 9.81 PTPN11 MAP2K2 MAP2K1
6 small GTPase mediated signal transduction GO:0007264 9.8 SOS2 SOS1 HRAS
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.77 SHOC2 PTPN11 CBL
8 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.73 RAF1 NRAS KRAS HRAS
9 thymus development GO:0048538 9.69 RAF1 MAP2K1 BRAF
10 interleukin-6-mediated signaling pathway GO:0070102 9.64 PTPN11 CBL
11 regulation of long-term neuronal synaptic plasticity GO:0048169 9.64 KRAS HRAS
12 regulation of T cell proliferation GO:0042129 9.62 SOS2 SOS1
13 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.62 MAP2K2 MAP2K1
14 regulation of stress-activated MAPK cascade GO:0032872 9.61 MAP2K2 MAP2K1
15 Bergmann glial cell differentiation GO:0060020 9.59 PTPN11 MAP2K1
16 lymphocyte homeostasis GO:0002260 9.58 SOS2 SOS1
17 regulation of early endosome to late endosome transport GO:2000641 9.58 MAP2K2 MAP2K1
18 thyroid gland development GO:0030878 9.58 RAF1 MAP2K1 BRAF
19 response to isolation stress GO:0035900 9.57 KRAS HRAS
20 positive regulation of small GTPase mediated signal transduction GO:0051057 9.56 SOS2 SOS1
21 epidermal growth factor receptor signaling pathway GO:0007173 9.56 SOS1 PTPN11 CBL BRAF
22 MAPK cascade GO:0000165 9.56 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
23 regulation of axon regeneration GO:0048679 9.55 MAP2K1 BRAF
24 neurotrophin TRK receptor signaling pathway GO:0048011 9.54 SOS1 RAF1 PTPN11
25 regulation of T cell differentiation in thymus GO:0033081 9.52 SOS2 SOS1
26 face development GO:0060324 9.5 RAF1 MAP2K1 BRAF
27 regulation of pro-B cell differentiation GO:2000973 9.49 SOS2 SOS1
28 regulation of Golgi inheritance GO:0090170 9.48 MAP2K2 MAP2K1
29 cerebellar cortex formation GO:0021697 9.46 PTPN11 MAP2K1
30 Ras protein signal transduction GO:0007265 9.17 SOS1 SHOC2 RRAS2 RIT1 NRAS KRAS

Molecular functions related to Pseudo-Turner Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.39 SOS2 SOS1 SHOC2 RRAS2 RIT1 RAF1
2 hydrolase activity GO:0016787 9.98 RRAS2 RIT1 PTPN11 PPP1CB NRAS KRAS
3 protein-containing complex binding GO:0044877 9.72 RAF1 NRAS KRAS HRAS BRAF
4 protein tyrosine kinase activity GO:0004713 9.65 MAP2K2 MAP2K1 BRAF
5 GTP binding GO:0005525 9.65 RRAS2 RIT1 NRAS KRAS HRAS
6 nucleotide binding GO:0000166 9.61 RRAS2 RIT1 RAF1 NRAS MAP2K2 MAP2K1
7 GTPase activity GO:0003924 9.55 RRAS2 RIT1 NRAS KRAS HRAS
8 scaffold protein binding GO:0097110 9.54 MAP2K2 MAP2K1 BRAF
9 MAP kinase kinase activity GO:0004708 9.49 MAP2K2 MAP2K1
10 mitogen-activated protein kinase kinase binding GO:0031434 9.46 RAF1 BRAF
11 MAP-kinase scaffold activity GO:0005078 9.4 MAP2K2 MAP2K1
12 GDP binding GO:0019003 9.02 RRAS2 RIT1 NRAS KRAS HRAS
Sources

Sources for Pseudo-Turner Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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