SBS
MCID: SBS006
MIFTS: 35

Sebastian Syndrome (SBS) malady

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Sebastian Syndrome

Aliases & Descriptions for Sebastian Syndrome:

Name: Sebastian Syndrome 54 24 66 29 13 52 69
Sebastian Platelet Syndrome 24
Sbs 66

Characteristics:

HPO:

32
sebastian syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 605249
MedGen 40 C1854520

Summaries for Sebastian Syndrome

OMIM : 54 Sebastian syndrome is an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets,... (605249) more...

MalaCards based summary : Sebastian Syndrome, also known as sebastian platelet syndrome, is related to may-hegglin anomaly and fechtner syndrome, and has symptoms including thrombocytopenia, epistaxis and prolonged bleeding time. An important gene associated with Sebastian Syndrome is MYH9 (Myosin Heavy Chain 9). The drugs Lamivudine and Abacavir have been mentioned in the context of this disorder. Affiliated tissues include eye and neutrophil.

UniProtKB/Swiss-Prot : 66 Sebastian syndrome: Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and less organized than in May-Hegglin anomaly.

Related Diseases for Sebastian Syndrome

Diseases related to Sebastian Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
id Related Disease Score Top Affiliating Genes
1 may-hegglin anomaly 11.7
2 fechtner syndrome 11.6
3 epstein syndrome 11.6
4 sick building syndrome 11.3
5 short bowel syndrome 11.2
6 neural tube defects 11.2
7 brooke-spiegler syndrome 11.0
8 myh9 related thrombocytopenia 10.9
9 myh-9 related disease 10.8
10 asthma 9.8
11 shaken baby syndrome 9.8
12 cerebritis 9.8
13 autosomal dominant macrothrombocytopenia 9.8
14 atopy 9.6
15 coronary thrombosis 9.6
16 breast cancer 9.6
17 ischemia 9.6
18 rhinitis 9.6
19 ulnar neuropathy 9.6
20 neuronitis 9.6
21 acute lymphocytic leukemia 9.6
22 neuropathy 9.6
23 brain injury 9.6
24 allergic asthma 9.6
25 leukemia 9.6
26 mn1 9.6
27 traumatic brain injury 9.6
28 chronic venous insufficiency 9.6
29 thrombosis 9.6
30 venous insufficiency 9.6

Graphical network of the top 20 diseases related to Sebastian Syndrome:



Diseases related to Sebastian Syndrome

Symptoms & Phenotypes for Sebastian Syndrome

Symptoms by clinical synopsis from OMIM:

605249

Clinical features from OMIM:

605249

Human phenotypes related to Sebastian Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 epistaxis 32 HP:0000421
3 prolonged bleeding time 32 HP:0003010
4 giant platelets 32 HP:0001902
5 neutrophil inclusion bodies 32 HP:0008264

Drugs & Therapeutics for Sebastian Syndrome

Drugs for Sebastian Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 230)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamivudine Approved, Investigational Phase 4,Phase 3 134678-17-4 60825
2
Abacavir Approved, Investigational Phase 4,Phase 3 136470-78-5 65140 441300
3
Tenofovir Approved, Investigational Phase 4,Phase 3 147127-20-6 464205
4
Emtricitabine Approved, Investigational Phase 4,Phase 3 143491-57-0 60877
5
Ritonavir Approved, Investigational Phase 4,Phase 3 155213-67-5 392622
6
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
7
Ropinirole Approved, Investigational Phase 4,Phase 3 91374-20-8, 91374-21-9 5095 497540
8
Pramipexole Approved, Investigational Phase 4,Phase 3 104632-26-0 59868 119570
9
Sodium oxybate Approved Phase 4 502-85-2 5360545
10
Lopinavir Approved Phase 4,Phase 3 192725-17-0 92727
11
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
12
Didanosine Approved Phase 4 69655-05-6 50599
13
Efavirenz Approved, Investigational Phase 4,Phase 3 154598-52-4 64139
14
Zidovudine Approved Phase 4 30516-87-1 35370
15
Ribavirin Approved Phase 4,Phase 3 36791-04-5 37542
16
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3 198153-51-4 5360545
17
Darunavir Approved Phase 4,Phase 3 635728-49-3, 206361-99-1 213039
18
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
19
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
20
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
21
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
22 Anti-HIV Agents Phase 4,Phase 3,Phase 2
23 Anti-Infective Agents Phase 4,Phase 3,Phase 2
24 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
25 Antiviral Agents Phase 4,Phase 3,Phase 2
26 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3
27 Reverse Transcriptase Inhibitors Phase 4,Phase 3
28 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3
29 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3
30 HIV Protease Inhibitors Phase 4,Phase 3
31
protease inhibitors Phase 4,Phase 3
32 Antiparkinson Agents Phase 4,Phase 3
33 Dopamine Agents Phase 4,Phase 3
34 Dopamine agonists Phase 4,Phase 3
35 Neurotransmitter Agents Phase 4,Phase 3
36 Antioxidants Phase 4,Phase 3
37 Protective Agents Phase 4,Phase 3
38 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
39 Antimetabolites Phase 4,Phase 3,Phase 2
40 Cytochrome P-450 CYP2C9 Inhibitors Phase 4,Phase 3
41 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3
42 interferons Phase 4,Phase 3
43 Iron-Dextran Complex Phase 4
44 Epoetin alfa Phase 4 113427-24-0
45 Hematinics Phase 4,Phase 3
46 Interferon-alpha Phase 4,Phase 3
47 Tin Fluorides Phase 4
48 Dideoxynucleosides Phase 4,Phase 3
49 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4,Phase 3
50 Atazanavir Sulfate Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 93)
id Name Status NCT ID Phase
1 Long-term Study Of Ropinirole In Restless Legs Syndrome Completed NCT00329602 Phase 4
2 Long-term Efficacy, Safety and Tolerability of Pramipexole in Patients With Idiopathic Moderate to Severe Restless Legs Syndrome (RLS) Completed NCT00472199 Phase 4
3 Phase IV Trial With Pramipexole to Evaluate Safety and Efficacy in Patients With RLS Associated With Mood Disturbances Completed NCT00356096 Phase 4
4 Observational Study to Evaluate Risks of Side Effects, Drug Abuse and Dependence in Patients Who Received Xyrem ® on Prescription Completed NCT00244465 Phase 4
5 Prevention of Lipoatrophy in Patients Treated With Lopinavir/Ritonavir in Monotherapy Versus ZDV + 3TC + ABC Completed NCT00865475 Phase 4
6 Lopinavir/r Monotherapy Versus Abacavir/Lamivudine and Lopinavir/r for Limb Fat Recovery in Persons With Lipoatrophy Completed NCT00865007 Phase 4
7 A Study to Evaluate the Safety and Efficacy of Adding Enfuvirtide to Oral Highly Active Antiretroviral Therapy (HAART) in Human Immunodeficiency Virus (HIV) Patients With Prior Treatment Experience Completed NCT00487188 Phase 4
8 Once a Day (QD) - Twice a Day (BID) Clinical Trial: Didanosine, Lamivudine and Efavirenz Versus Zidovudine, Lamivudine and Efavirenz in the Starting Treatment of HIV Completed NCT00256828 Phase 4
9 Immunological and Viral Response to Antiretrovirals in HIV Patients With CD4 Cell Count Below 100 Completed NCT00385957 Phase 4
10 Treatment of HIV/HCV Coinfection With Peg-IFN and Ribavirin in Patients Receiving ART Monotherapy With Lopinavir/r Completed NCT00866021 Phase 4
11 Viral Kinetics of Treatment With Peginterferon Alpha-2a, Ribavirin and Epoetin β in Patients Coinfected HCV/HIV Completed NCT00356486 Phase 4
12 "OK 2004 Study" (Only Kaletra 2004 Study): Study to Evaluate Suspending Nucleosides From Triple-Drug Therapy in HIV Subjects Completed NCT00114933 Phase 4
13 Efficacy and Safety to Extend Treatment 24 Weeks in co-Infected HIV-HCV Genotype 1 and/or 4 Completed NCT00612755 Phase 4
14 A Phase 4 Cross-Sectional Study of Bone Mineral Density in HIV-1 Infected Subjects Completed NCT01850212 Phase 4
15 Study to Evaluate Darunavir/Ritonavir + Lamivudine Versus Continuing With Darunavir/Ritonavir + Tenofovir/Emtricitabine or Abacavir/Lamivudine in HIV Infected Subject Completed NCT02159599 Phase 4
16 Simplification to Atazanavir/Ritonavir + Lamivudine as Maintenance Therapy Completed NCT01307488 Phase 4
17 Clinical Utility Of Genetic Screening For HLA-B*5701, On Susceptibility To Abacavir Hypersensitivity Completed NCT00340080 Phase 4
18 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Recruiting NCT02415400 Phase 4
19 CPAP Effect on Albuminuria in Patients With Diabetic Nephropathy and Obstructive Sleep Apnea Recruiting NCT02816762 Phase 4
20 A Study of GSK1349572 Versus Raltegravir (RAL) With Investigator Selected Background Regimen in Antiretroviral-Experienced, Integrase Inhibitor-Naive Adults Unknown status NCT01231516 Phase 3
21 A Trial Comparing GSK1349572 50mg Once Daily to Raltegravir 400mg Twice Daily Unknown status NCT01227824 Phase 3
22 A Controlled-Study of Fenofibrate 145 mg and Ezetimibe 10 mg in Type IIb Dyslipidemic Patients With Features of the Metabolic Syndrome Completed NCT00349284 Phase 3
23 The Stabilization Of pLaques usIng Darapladib-Thrombolysis In Myocardial Infarction 52 Trial Completed NCT01000727 Phase 3
24 Efficacy, Safety, and Tolerability of JNJ-27018966 in the Treatment of Patients With Diarrhea-Predominant Irritable Bowel Syndrome (IBS-d) (Protocol JNJ-27018966IBS3001) Completed NCT01553591 Phase 3
25 RLS In Adults: Comparing Immediate Release Formulation With Extended Release Formulation Of Ropinirole Completed NCT00314860 Phase 3
26 A Study With Aleglitazar in Patients With a Recent Acute Coronary Syndrome and Type 2 Diabetes Mellitus Completed NCT01042769 Phase 3
27 Safinamide in Idiopathic Parkinson's Disease (IPD) With Motor Fluctuations, as add-on to Levodopa Completed NCT00627640 Phase 3
28 MOTION, Safinamide in Early IPD, as add-on to Dopamine Agonist Completed NCT00605683 Phase 3
29 Expanded Access Program for Maraviroc At Multiple Centers Completed NCT00426660 Phase 3
30 Nevirapine or Atazanavir/Ritonavir Given With Emtricitabine/Tenofovir in Human Immunodeficiency Virus (HIV)-1-infected Treatment Naive Adults Completed NCT00389207 Phase 3
31 A Trial Comparing GSK1349572 50mg Plus Abacavir/Lamivudine Once Daily to Atripla (Also Called The SINGLE Trial) Completed NCT01263015 Phase 3
32 Prevention of Cardiovascular Events (eg, Death From Heart or Vascular Disease, Heart Attack, or Stroke) in Patients With Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin Completed NCT01225562 Phase 3
33 Efficacy of Alogliptin With Pioglitazone (Actos®) in Subjects With Type 2 Diabetes Mellitus Completed NCT00395512 Phase 3
34 Efficacy of Alogliptin and Pioglitazone in Subjects With Type 2 Diabetes Mellitus Completed NCT00432276 Phase 3
35 Eltrombopag To Initiate And Maintain Interferon Antiviral Treatment To Benefit Subjects With Hepatitis C Liver Disease Completed NCT00529568 Phase 3
36 Eltrombopag To Initiate And Maintain Interferon Antiviral Treatment To Subjects With Hepatitis C Related Liver Disease Completed NCT00516321 Phase 3
37 An Efficacy and Safety Study of Telaprevir in Patients Infected With Both Chronic Hepatitis C Virus (HCV-1) and Human Immunodeficiency Virus (HIV-1) Completed NCT01513941 Phase 3
38 A Two Part, Open-label Study to Evaluate the Safety and Effectiveness of ABT-450/r/ABT-267 or ABT-450/r/ABT-267 and ABT-333 Given With or Without a Drug Called Ribavirin in People With Both Hepatitis C Virus Genotype 1 or 4 Infection and Human Immunodefic Completed NCT01939197 Phase 3
39 Antiretroviral Treatment Simplification Study With Efavirenz + Abacavir + 3TC Once Daily Completed NCT00314626 Phase 3
40 Tipranavir/Ritonavir vs. Genotypically Defined Protease Inhibitor/Ritonavir in HIV Patients (RESIST-2) Completed NCT00144170 Phase 3
41 Trial of Maraviroc (UK-427,857) in Combination With Optimized Background Therapy Versus Optimized Background Therapy Alone for the Treatment of HIV-1 Infected Subjects Completed NCT00098722 Phase 2, Phase 3
42 An International Study to Evaluate Recombinant Interleukin-2 in HIV Positive Patients Taking Anti-retroviral Therapy Completed NCT00004978 Phase 3
43 Study on Reduced Antibiotic Treatment vs Broad Spectrum Betalactam in Patients With Bacteremia by Enterobacteriaceae Recruiting NCT02795949 Phase 3
44 ODYSSEY Outcomes: Evaluation of Cardiovascular Outcomes After an Acute Coronary Syndrome During Treatment With Alirocumab Active, not recruiting NCT01663402 Phase 3
45 An Efficacy, Safety, and Tolerability Study Comparing Dolutegravir Plus Lamivudine With Dolutegravir Plus Tenofovir/Emtricitabine in Treatment naïve HIV Infected Subjects (Gemini 1) Active, not recruiting NCT02831673 Phase 3
46 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3
47 Study to Evaluate Efficacy and Safety of Darunavir/Cobicistat/Emtricitabine/Tenofovir Alafenamide (D/C/F/TAF) Regimen Versus Boosted Protease Inhibitor (bPI) Along With Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) Regimen in Virologically-Suppres Active, not recruiting NCT02269917 Phase 3
48 Study to Evaluate the Efficacy, Safety, and Tolerability of Long-acting Intramuscular Cabotegravir and Rilpivirine for Maintenance of Virologic Suppression Following Switch From an Integrase Inhibitor in HIV-1 Infected Therapy Naive Participants Active, not recruiting NCT02938520 Phase 3
49 A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures Active, not recruiting NCT01713946 Phase 3
50 Urokinase Therapy in Patients With Diabetic Foot Syndrome Terminated NCT00823225 Phase 3

Search NIH Clinical Center for Sebastian Syndrome

Genetic Tests for Sebastian Syndrome

Genetic tests related to Sebastian Syndrome:

id Genetic test Affiliating Genes
1 Sebastian Syndrome 29 24 MYH9

Anatomical Context for Sebastian Syndrome

MalaCards organs/tissues related to Sebastian Syndrome:

39
Eye, Neutrophil

Publications for Sebastian Syndrome

Articles related to Sebastian Syndrome:

id Title Authors Year
1
Easy bruising due to giant platelet (possibly MYH9-related/Sebastian) syndrome. ( 26515853 )
2015
2
Sebastian syndrome with abnormal platelet response to ristocetin. ( 18812282 )
2008
3
Cerebral infarction in a patient with macrothrombocytopenia with leukocyte inclusions (MTCP, May-Hegglin anomaly/Sebastian syndrome). ( 18781047 )
2008
4
MYH9-related disease: may-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. ( 12792306 )
2003
5
Sebastian syndrome: report of the first case in a South American family. ( 12745286 )
2003
6
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. ( 12217806 )
2002
7
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). ( 11159552 )
2001
8
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. ( 10973259 )
2000
9
Sebastian syndrome: case report and review of the literature. ( 10331513 )
1999

Variations for Sebastian Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Sebastian Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 MYH9 p.Arg702Cys VAR_010792 rs80338826
2 MYH9 p.Arg1165Cys VAR_010795 rs80338829
3 MYH9 p.Glu1841Lys VAR_010797 rs80338834
4 MYH9 p.Lys373Asn VAR_018310
5 MYH9 p.Arg1165Leu VAR_018313 rs80338830
6 MYH9 p.Asp1424Asn VAR_018316 rs80338831

ClinVar genetic disease variations for Sebastian Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYH9 NM_002473.5(MYH9): c.5797C> T (p.Arg1933Ter) single nucleotide variant Pathogenic rs80338835 GRCh37 Chromosome 22, 36678800: 36678800
2 MYH9 NM_002473.5(MYH9): c.3493C> T (p.Arg1165Cys) single nucleotide variant Pathogenic rs80338829 GRCh37 Chromosome 22, 36691115: 36691115
3 MYH9 NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys) single nucleotide variant Pathogenic rs80338826 GRCh37 Chromosome 22, 36702031: 36702031
4 MYH9 NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
5 MYH9 NM_002473.5(MYH9): c.3195_3215del21 (p.Gln1068_Leu1074del) deletion Pathogenic rs876661302 GRCh37 Chromosome 22, 36692946: 36692966

Expression for Sebastian Syndrome

Search GEO for disease gene expression data for Sebastian Syndrome.

Pathways for Sebastian Syndrome

GO Terms for Sebastian Syndrome

Sources for Sebastian Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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