Turner Syndrome
UMLS: C0041408
Basic Information
Severity Level:
Critical
Based on 1 similar ADEs (max similarity: 0.457)
Definition:
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
UMLS ID:
C0041408
MeSH ID:
Synonyms:
45, X Syndrome
45,X Gonadal Dysgenesis
45X Syndrome
45X0 - Turner'S Syndrome
Bonnevie-Ullrich Syndrome
Dwarfism, Ovarian
Gonadal Dysgenesis
Karyotype 45, X
Karyotype 45,X
Monosomy X
Morgagni-Turner
Morgagni-Turner Syndrome
Morgagni-Turner-Albright Syndrome
Pterygolymphangiectasia Syndrome
Shereshevskii-Turner Syndrome
Ts - Turner'S Syndrome
Turner Syndrome
Turner-Varny Syndrome
Turner Syndrome
Classification Hierarchy
MeSH Tree Number breakdown for C0041408
C12
Urogenital Diseases
C12
Urogenital Diseases
C14
Cardiovascular Diseases
C14.240
Cardiovascular Abnormalities
C14.240.400
Heart Defects, Congenital
C14
Cardiovascular Diseases
C14.280
Heart Diseases
C14.280.400
Heart Defects, Congenital
C16
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C16.131
Congenital Abnormalities
C16
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C16.131
Congenital Abnormalities
C16
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C16.131
Congenital Abnormalities
C16
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C16.131
Congenital Abnormalities
C16
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C16.320
Genetic Diseases, Inborn
C16.320.180
Chromosome Disorders
C16.320.180.830
Sex Chromosome Disorders
C16.320.180.830.835
Sex Chromosome Disorders of Sex Development
C16.320.180.830.835.750
Turner Syndrome
C19
Endocrine System Diseases
C19.391
Gonadal Disorders
C19.391.119
Disorders of Sex Development
C19.391.119.309
Gonadal Dysgenesis
C19
Endocrine System Diseases
C19.391
Gonadal Disorders
C19.391.119
Disorders of Sex Development
C19.391.119.795
Sex Chromosome Disorders of Sex Development
ADE Molecular Mechanism Mapping
Drug-ADE-Human Protein Triplets
Molecular mechanism triplets showing drug-adverse event-protein relationships
3
Total Triplets
0
High Confidence
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Personalized Drug-Protein-ADE Network
Comprehensive Information for Personalized ADE
Comprehensive Information and Reliability for Drug-ADE Association
Drug Confidence Filter
DTA Confidence Level
Layout Style
Show Labels
Total Drugs
44
2 High |
11 Medium |
31 Low Confidence
Total Proteins
4
Target proteins associated with this ADE
Drug-Protein-ADE association
880
0 Known |
0 High |
3 Middle |
877 Low Confidence
Confidence Profile
0%
Known/High/Middle-confidence interactions
This interactive network visualization shows the relationships between the top 50 drugs (ranked by case number) out of 44 total drugs associated with this adverse event, their known and potential off-target proteins, and the associated adverse effect. The connections indicate binding interactions and mechanistic pathways.
Adverse Drug Event (ADE)
Drug
Protein
Drug-Center
Human Protein-Center
confidence level
Drug Confidence Level Distribution
Drug Type Distribution
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Pharmacological Target Class Distribution
Top 8 Function Target Sub Classes
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The Introduction of Drug-AE Confidence Score Grade
| Priority Level | Score Range | Description | Evidence Characteristics |
|---|---|---|---|
| High | Score ≥ 6.67High-priority associations requiring immediate attention. | Strong evidence across multiple dimensions with high statistical significance, robust association measures, and substantial case numbers. Warrant priority pharmacovigilance action. | High P-value scores (significant Adjust-P), Strong ROR/PRR values, Substantial case numbers, Complete dimensional coverage, Minimal data filtering needed. |
| Medium | 3.33 ≤ Score < 6.67Medium-priority associations requiring careful evaluation. | Moderate evidence quality with acceptable statistical significance and association strength. May need additional validation or monitoring before definitive action. | Moderate P-value significance, Reasonable ROR/PRR measures, Adequate case numbers, Partial dimensional coverage, Some data quality considerations. |
| Low | Score < 3.33Low-priority associations with limited evidence strength. | May represent weak signals, insufficient data, or associations requiring extensive additional investigation before any regulatory or clinical consideration. | Weak P-value significance, Low association measures, Limited case numbers, Incomplete dimensional data, Significant data filtering applied. |
The Introduction of Drug-AE Severity Score Grade
| Severity Level | Score Range | Description | Typical outcomes |
|---|---|---|---|
| Minimal | 0 ≤ Score ≤ 0.387 Low severity ADRs requiring minimal intervention. | Events that need medical attention to prevent permanent damage but without hospitalization or life-threatening consequences. | Primarily RI (Required Intervention) outcomes, Outpatient management, Preventive measures, Early intervention prevents escalation. |
| Mild | 0.387 < Score ≤ 0.861 Mild severity events requiring hospitalization. | Mix of intervention-required and hospitalization cases with manageable clinical outcomes and good recovery potential. | Mix of RI and HO outcomes, Initial or prolonged hospitalization, Active medical management, Generally favorable prognosis. |
| Moderate | 0.861 < Score ≤ 1.500 Moderate ADRs resulting in permanent disability. | Higher proportion of hospitalization and disability cases requiring intensive medical management and long-term care planning. | Increased HO and DS outcomes, Permanent disability, Extended hospitalization, Rehabilitation required, Long-term functional impairment. |
| Severe | 1.500 < Score ≤ 2.52High severity life-threatening events with significant morbidity. | Notable presence of disability and life-threatening outcomes requiring emergency intervention and intensive care management. | Prominent DS and LT outcomes, Life-threatening events, Emergency intervention required, ICU admission, High risk of permanent consequences. | Critical | 2.524 < Score ≤ 5.000Critical life-threatening or fatal ADRs with maximum clinical impact. | High proportion of life-threatening events and deaths with very strong drug-event associations requiring immediate regulatory action. | Significant LT and DE outcomes, Fatal events, Emergency life-support measures, Immediate drug discontinuation, Regulatory safety alerts. |
The Introduction of Drug-AE-Protein Confidence Score Grade
| Confidence Level | Relationships | Description | Evidence Types |
|---|---|---|---|
| Known/Valid | Direct DTA relationships | The drug-ADE, drug-target, and target-ADE associations are all derived from the same literature source. | Experimental validation, Clinical evidence |
| High | DT + TA + DA | Two of the three associations (drug-ADE, drug-target, and target-ADE) are derived from the same literature source, while the third is validated by other literature. | Multiple corroborating sources |
| Medium | DT + TA + DA | Two of the three associations (drug-ADE, drug-target, and target-ADE) are validated by separate literature sources. | Partial evidence chain |
| Low | TA + DT | Only target-ADE and drug-target associations are validated by literature sources. | Associative evidence only |
Personalized ADE
Route and Formulation-specified Associations
Pharmaceutic Granularity for Route and Formulation specification
Administration Routes (Total: 56 cases across 5 routes)
Dosage Forms (Total: 24 cases across 4 forms)
Drug Route Analysis
Drug Form Analysis
Drug Route Analysis
| Route | Drug Name | Case Number | Confidence Score | Confidence Level | Severity Score | Severity Level | Details | ||
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Drug Form Analysis
| Form | Drug Name | Case Number | Confidence Score | Confidence Level | Severity Score | Severity Level | Details | ||
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Disease-stratified Associations
Personalized Granularity for Disease and Indication Stratification
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Indication Name
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Drug Name
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Case Number
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Confidence Score
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Confidence Level
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Severity Score
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Severity Level
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Details |
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DEV TOOL
