MCID: SBS006
MIFTS: 25

Sebastian Syndrome malady

Genetic diseases (common) category

Aliases & Classifications for Sebastian Syndrome

About this section
Sources:
45OMIM, 10diseasecard, 20GeneTests, 43Novoseek, 22GTR, 60UMLS
See all sources

Sebastian Syndrome, Aliases & Descriptions:

Name: Sebastian Syndrome 45 10 20 43 22 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 605249

Summaries for Sebastian Syndrome

About this section


OMIM:45 Sebastian syndrome is an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets,... (605249) more...

MalaCards based summary: Sebastian Syndrome is related to may-hegglin anomaly and fechtner syndrome, and has symptoms including autosomal dominant inheritance, epistaxis and thrombocytopenia. An important gene associated with Sebastian Syndrome is MYH9 (myosin, heavy chain 9, non-muscle). Affiliated tissues include eye and neutrophil.

Related Diseases for Sebastian Syndrome

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1may-hegglin anomaly10.6
2fechtner syndrome10.3
3epstein syndrome10.3
4myh9 related thrombocytopenia10.3
5cerebritis10.1
6myh9-related disorders10.1
7autosomal dominant macrothrombocytopenia10.1

Graphical network of diseases related to Sebastian Syndrome:



Diseases related to sebastian syndrome

Symptoms for Sebastian Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

605249

Clinical features from OMIM:

605249

HPO human phenotypes related to Sebastian Syndrome:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 epistaxis HP:0000421
3 thrombocytopenia HP:0001873
4 giant platelets HP:0001902
5 prolonged bleeding time HP:0003010
6 neutrophil inclusion bodies HP:0008264

Drugs & Therapeutics for Sebastian Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Sebastian Syndrome

Search NIH Clinical Center for Sebastian Syndrome

Genetic Tests for Sebastian Syndrome

About this section

Genetic tests related to Sebastian Syndrome:

id Genetic test Affiliating Genes
1 Sebastian Syndrome20 22 MYH9

Anatomical Context for Sebastian Syndrome

About this section

MalaCards organs/tissues related to Sebastian Syndrome:

31
Eye, Neutrophil

Animal Models for Sebastian Syndrome or affiliated genes

About this section

Publications for Sebastian Syndrome

About this section

Articles related to Sebastian Syndrome:

idTitleAuthorsYear
1
Cerebral infarction in a patient with macrothrombocytopenia with leukocyte inclusions (MTCP, May-Hegglin anomaly/Sebastian syndrome). (18781047)
2008
2
Sebastian syndrome with abnormal platelet response to ristocetin. (18812282)
2008
3
Sebastian syndrome: report of the first case in a South American family. (12745286)
2003
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
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. (12217806)
2002
6
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). (11159552)
2001
7
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. (10973259)
2000
8
Sebastian syndrome: case report and review of the literature. (10331513)
1999

Variations for Sebastian Syndrome

About this section

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

62
id Symbol AA change Variation ID SNP ID
1MYH9p.Arg702CysVAR_010792
2MYH9p.Arg1165CysVAR_010795
3MYH9p.Glu1841LysVAR_010797
4MYH9p.Lys373AsnVAR_018310
5MYH9p.Arg1165LeuVAR_018313
6MYH9p.Asp1424AsnVAR_018316

Clinvar genetic disease variations for Sebastian Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.4(MYH9): c.5797C> T (p.Arg1933Ter)single nucleotide variantPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.4(MYH9): c.3493C> T (p.Arg1165Cys)single nucleotide variantPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
3MYH9NM_002473.4(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
4MYH9NM_002473.4(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
5MYH9MYH9, 21-BP DELdeletionPathogenic

Expression for genes affiliated with Sebastian Syndrome

About this section
Search GEO for disease gene expression data for Sebastian Syndrome.

Pathways for genes affiliated with Sebastian Syndrome

About this section

Compounds for genes affiliated with Sebastian Syndrome

About this section

GO Terms for genes affiliated with Sebastian Syndrome

About this section

Products for genes affiliated with Sebastian Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Sebastian Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet