Sebastian Syndrome

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Sebastian Syndrome

MalaCards integrated aliases for Sebastian Syndrome:

Name: Sebastian Syndrome 54 24 71 29 13 52 69
Sebastian Platelet Syndrome 24
Sbs 71



autosomal dominant

allelic to may-hegglin anomaly , fechtner syndrome , epstein syndrome and deafness, autosomal dominant 17


sebastian syndrome:
Inheritance autosomal dominant inheritance


Summaries for Sebastian Syndrome

OMIM : 54
Sebastian syndrome is an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and inclusions in peripheral blood leukocytes (Greinacher et al., 1990). There are several other disorders caused by mutation in the MYH9 gene that share overlapping features with Sebastian syndrome. May-Hegglin anomaly (155100) shares the same triad as Sebastian syndrome, but has a different ultrastructural appearance of the leukocyte inclusions. In May-Hegglin anomaly, the inclusions are composed of clusters of ribosomes oriented along parallel microfilaments, whereas in Sebastian syndrome, the leukocyte inclusions are composed of highly dispersed filaments and few ribosomes. Fechtner syndrome (153640) has the platelet defect accompanied by nephritis, hearing loss, and eye abnormalities, mostly cataracts. Epstein syndrome (153650) has the platelet defect, deafness, and nephritis, but does not have cataract and lacks leukocyte inclusion bodies on classic staining of peripheral blood smears. The findings of nephritis, hearing loss, and occasional cataracts in Fechtner and Epstein syndromes are reminiscent of Alport syndrome (301050). Seri et al. (2003) suggested that these 4 disorders, May-Hegglin, Sebastian, Epstein, and Fechtner syndromes, are not distinct entities, but rather represent a single disorder with a continuous clinical spectrum, for which they proposed the term 'MYH9-related disease.' However, other disorders, e.g., macrothrombocytopenia and progressive sensorineural deafness (600208) and a form of nonsyndromic deafness (DFNA17; 603622), are also caused by mutation in the MYH9 gene. (605249)

MalaCards based summary : Sebastian Syndrome, also known as sebastian platelet syndrome, is related to sick building syndrome and may-hegglin anomaly, and has symptoms including thrombocytopenia, epistaxis and giant platelets. An important gene associated with Sebastian Syndrome is MYH9 (Myosin Heavy Chain 9). The drugs Dopamine and Ropinirole have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and liver.

UniProtKB/Swiss-Prot : 71 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 29)
id Related Disease Score Top Affiliating Genes
1 sick building syndrome 11.3
2 may-hegglin anomaly 11.3
3 short bowel syndrome 11.2
4 fechtner syndrome 11.2
5 epstein syndrome 11.2
6 neural tube defects 11.2
7 brooke-spiegler syndrome 11.0
8 myh9 related thrombocytopenia 10.8
9 shaken baby syndrome 9.8
10 asthma 9.8
11 autosomal dominant macrothrombocytopenia 9.8
12 cerebritis 9.8
13 leukemia 9.6
14 traumatic brain injury 9.6
15 chronic venous insufficiency 9.6
16 thrombosis 9.6
17 venous insufficiency 9.6
18 coronary thrombosis 9.6
19 breast cancer 9.6
20 ischemia 9.6
21 atopy 9.6
22 rhinitis 9.6
23 ulnar neuropathy 9.6
24 neuronitis 9.6
25 neuropathy 9.6
26 acute lymphocytic leukemia 9.6
27 allergic asthma 9.6
28 brain injury 9.6
29 mn1 9.6

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

Diseases related to Sebastian Syndrome

Symptoms & Phenotypes for Sebastian Syndrome

Symptoms via clinical synopsis from OMIM:


giant platelets
leukocyte inclusion bodies (dohle-like bodies)
asymptomatic to mild bleeding episodes (epistaxis, postoperative hemorrhage)

Head And Neck- Eyes:
no cataracts

Laboratory- Abnormalities:
mild to moderate thrombocytopenia (40-120 x 10(9)/l)
median mean platelet volume (mpv) 18fl
mildly prolonged bleeding time 10-12 minutes
normal platelet aggregation response to arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin

Head And Neck- Ears:
no deafness

Genitourinary- Kidneys:
no nephritis

Clinical features from OMIM:


Human phenotypes related to Sebastian Syndrome:

id Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 epistaxis 32 HP:0000421
3 giant platelets 32 HP:0001902
4 prolonged bleeding time 32 HP:0003010
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 89)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
Ropinirole Approved, Investigational Phase 4,Phase 3 91374-20-8, 91374-21-9 5095 497540
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
8 Antiparkinson Agents Phase 4,Phase 3
9 Dopamine Agents Phase 4,Phase 3
10 Dopamine agonists Phase 4,Phase 3
11 Neurotransmitter Agents Phase 4,Phase 3
12 Antioxidants Phase 4
13 Protective Agents Phase 4
14 Analgesics Phase 4
15 Analgesics, Non-Narcotic Phase 4
16 Anticoagulants Phase 4,Phase 3
17 Antifibrinolytic Agents Phase 4
18 Anti-Inflammatory Agents Phase 4
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4
20 Antipyretics Phase 4
21 Antirheumatic Agents Phase 4,Phase 2
22 Antithrombin III Phase 4,Phase 3
23 Antithrombins Phase 4,Phase 3
24 Coagulants Phase 4
25 Cyclooxygenase Inhibitors Phase 4
26 Factor Xa Inhibitors Phase 4,Phase 3
27 Fibrinolytic Agents Phase 4
28 Hemostatics Phase 4
29 HIV Protease Inhibitors Phase 4,Phase 3
30 Micronutrients Phase 4
31 Peripheral Nervous System Agents Phase 4
32 Platelet Aggregation Inhibitors Phase 4
protease inhibitors Phase 4,Phase 3
34 Serine Proteinase Inhibitors Phase 4,Phase 3
35 Trace Elements Phase 4
36 Vitamins Phase 4
37 Menaquinone Nutraceutical Phase 4
38 naphthoquinone Nutraceutical Phase 4
39 serine Nutraceutical Phase 4,Phase 3
40 Vitamin K Nutraceutical Phase 4
Ezetimibe Approved Phase 3 163222-33-1 150311
Fenofibrate Approved Phase 3 49562-28-9 3339
43 Nutmeg Approved, Nutraceutical Phase 3
44 Anticholesteremic Agents Phase 3
45 Antimetabolites Phase 3,Phase 2
46 Hypolipidemic Agents Phase 3
47 Lipid Regulating Agents Phase 3
Darapladib Phase 3 356057-34-6 9939609
49 Pharmaceutical Solutions Phase 3,Phase 2
50 Antibodies Phase 3

Interventional clinical trials:

(show all 39)

id Name Status NCT ID Phase Drugs
1 Long-term Study Of Ropinirole In Restless Legs Syndrome Completed NCT00329602 Phase 4 Placebo;Ropinirole
2 Long-term Efficacy, Safety and Tolerability of Pramipexole in Patients With Idiopathic Moderate to Severe Restless Legs Syndrome (RLS) Completed NCT00472199 Phase 4 Pramipexole;Placebo
3 Phase IV Trial With Pramipexole to Evaluate Safety and Efficacy in Patients With RLS Associated With Mood Disturbances Completed NCT00356096 Phase 4 pramipexole
4 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 Apixaban;vitamin K antagonist;Acetylsalicylic acid
5 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 Combination of 145 mg fenofibrate and 10 mg ezetimibe
6 The Stabilization Of pLaques usIng Darapladib-Thrombolysis In Myocardial Infarction 52 Trial Completed NCT01000727 Phase 3 Darapladib 160 mg;Placebo
7 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 JNJ-27018966;Placebo
8 RLS In Adults: Comparing Immediate Release Formulation With Extended Release Formulation Of Ropinirole Completed NCT00314860 Phase 3 ropinirole Extended Release (XR)
9 A Study With Aleglitazar in Patients With a Recent Acute Coronary Syndrome and Type 2 Diabetes Mellitus Completed NCT01042769 Phase 3 Aleglitazar;Placebo
10 ODYSSEY Outcomes: Evaluation of Cardiovascular Outcomes After an Acute Coronary Syndrome During Treatment With Alirocumab Active, not recruiting NCT01663402 Phase 3 alirocumab;Placebo
11 Urokinase Therapy in Patients With Diabetic Foot Syndrome Terminated NCT00823225 Phase 3 Urokinase
12 Phase III Acute Coronary Syndrome Terminated NCT00831441 Phase 3 Apixaban;Placebo
13 Reducing Elevated Heart Rate in Patients With Multiple Organ Dysfunction Syndrome (MODS) by Ivabradine Unknown status NCT01186783 Phase 2 ivabradine
14 Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease Completed NCT01133860 Phase 2 eltrombopag
15 Urokinase Therapy in Diabetic Foot Syndrome Completed NCT00537498 Phase 2 Urokinase
16 A Study of RO4917523 in Patients With Fragile X Syndrome Completed NCT01517698 Phase 2 Placebo;RO4917523 0.5 mg;RO4917523 1.5 mg
17 A Study of Xeloda (Capecitabine) in Combination With Chemotherapy in Patients With Advanced and/or Metastatic Gastric Cancer. Completed NCT00454636 Phase 2 Cisplatin;Capecitabine;Epirubicin;Cisplatin;Capecitabine;Oxaliplatin;Docetaxel;Capecitabine
18 Azacytidine Prior to in Vivo T-cell Depleted Allo Stem Cell Transplant for Patients With Myeloid Malignancies in CR Recruiting NCT02497404 Phase 2 5-Azacytidine;Fludarabine;Melphalan;Alemtuzumab
19 Safety and Efficacy Study of Subcutaneous Belimumab and Intravenous Rituximab Co-administration in Subjects With Primary Sjogren's Syndrome Recruiting NCT02631538 Phase 2 Belimumab;Rituximab;Placebo belimumab;Placebo rituximab
20 Eltrombopag for Inherited Thrombocytopenias Active, not recruiting NCT02422394 Phase 2 Eltrombopag
21 PET/CT for the Quantification of Atherosclerotic Plaque Inflammation Unknown status NCT01553513
22 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236
23 Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies Completed NCT01555346
24 Non-invasive Liver Screening for Risk Assessment for Coronary Heart Disease Completed NCT02779946
25 Improving Drug Adherence Among Adolescents in Uganda Using SMS Reminders Completed NCT02128087
26 Study Evaluating How Patients With Acute Coronary Syndrome Are Managed During 2 Years After Discharge Completed NCT01171404
27 A Prospective, Multi-centric Observational Study to Determine the Mono-bifollicular Development in Infertile Women Subjected to Ovulation Induction With Follitropin α Completed NCT01111084 Follitropin alpha (r-FSH)
28 Validation of a Comprehensive Health Status Assessment Scale in Elderly Patients (≥ 65 Years) With Hematological Malignancies Completed NCT02164071
29 SMS as an Incentive To Adhere (SITA) - An Intervention Communicating Social Norms by SMS to Improve ARV Adherence Completed NCT02514356
30 Prospective Registry of Acute Heart Failure Recruiting NCT02444416
31 Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies Recruiting NCT01052688
32 Effect of Sleep Apnea on Blood Pressure Control and Outcome Early After Subarachnoid Hemorrhage Recruiting NCT02724215
33 PRESSUREwire Study Recruiting NCT02935088
34 Asynchrony During Mechanical Ventilation in Patients With Acute Respiratory Distress Syndrome Recruiting NCT02732041
35 Incidence and Effects of Sleep Apnea on Intracerebral Aneurysms Recruiting NCT02880059
36 Health Outcomes of Recently Diagnosed Myelodysplastic Syndrome (MDS)/Chronic Myelomonocytic Leukemia (CMML) Patients Depending on Treatment Strategy (Wait and See, Support, Active Treatment) Active, not recruiting NCT02085798
37 Impact of Adjuvant FOLFOX on Quality of Life and Sensory Neurotoxicity in Patients With Advanced Gastric Cancer Active, not recruiting NCT02577263
38 Supporting Adolescents to Adhere - an Intervention Using Airtime Rewards Allocated by a Prize Drawing Active, not recruiting NCT02918838
39 Changes in Cerebral Oxygenation During Laparoscopy in Patients With Single Ventricle Anatomy Enrolling by invitation NCT02614664

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:

Eye, Heart, Liver, Testes, Neutrophil, T Cells, Myeloid

Publications for Sebastian Syndrome

Articles related to Sebastian Syndrome:

id Title Authors Year
Easy bruising due to giant platelet (possibly MYH9-related/Sebastian) syndrome. ( 26515853 )
Cerebral infarction in a patient with macrothrombocytopenia with leukocyte inclusions (MTCP, May-Hegglin anomaly/Sebastian syndrome). ( 18781047 )
Sebastian syndrome with abnormal platelet response to ristocetin. ( 18812282 )
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 )
Sebastian syndrome: report of the first case in a South American family. ( 12745286 )
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. ( 12217806 )
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). ( 11159552 )
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. ( 10973259 )
Sebastian syndrome: case report and review of the literature. ( 10331513 )

Variations for Sebastian Syndrome

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

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:

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

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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