MCID: SBS006
MIFTS: 30

Sebastian Syndrome

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Sebastian Syndrome

MalaCards integrated aliases for Sebastian Syndrome:

Name: Sebastian Syndrome 53 71 28 13 51 69
Sbs 53 71
Macrothrombocytopenia with Dispersed Leukocytic Inclusions 53
Sebastian Platelet Syndrome 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
sebastian syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 605249
MedGen 39 C1854520
UMLS 69 C1854520

Summaries for Sebastian Syndrome

OMIM : 53 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 sbs, 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). Affiliated tissues include eye.

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

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:

53
Head And Neck Ears:
no hearing loss

Genitourinary Kidneys:
no nephritis

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 Eyes:
no cataracts

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


Clinical features from OMIM:

605249

Human phenotypes related to Sebastian Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 HP:0001873
2 epistaxis 31 HP:0000421
3 prolonged bleeding time 31 HP:0003010
4 giant platelets 31 HP:0001902
5 leukocyte inclusion bodies 31 HP:0040235

Drugs & Therapeutics for Sebastian Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease Completed NCT01133860 Phase 2 eltrombopag
2 Eltrombopag for Inherited Thrombocytopenias Active, not recruiting NCT02422394 Phase 2 Eltrombopag
3 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236

Search NIH Clinical Center for Sebastian Syndrome

Genetic Tests for Sebastian Syndrome

Genetic tests related to Sebastian Syndrome:

# Genetic test Affiliating Genes
1 Sebastian Syndrome 28 MYH9

Anatomical Context for Sebastian Syndrome

MalaCards organs/tissues related to Sebastian Syndrome:

38
Eye

Publications for Sebastian Syndrome

Articles related to Sebastian Syndrome:

# 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
Sebastian syndrome: report of the first case in a South American family. ( 12745286 )
2003
5
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
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:

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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