MCID: SBS006
MIFTS: 25

Sebastian Syndrome malady

Fetal category

Summaries for Sebastian Syndrome

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Sebastian Syndrome, also known as ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence, is related to ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence and myh9 related thrombocytopenia, and has symptoms including joint/articular deformation, intellectual deficit/mental/psychomotor retardation/learning disability and autosomal dominant inheritance. An important gene associated with Sebastian Syndrome is MYH9 (myosin, heavy chain 9, non-muscle).

Description from OMIM:47 192445,605249

Aliases & Classifications for Sebastian Syndrome

Sources:
49Orphanet, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal


Characteristics (Orphanet epidemiological data):

49
ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

sebastian syndrome 20 22 47 45 61
ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence 49
stoll-kieny-dott syndrome 49


External Ids:

OMIM47 192445
ICD10 via Orphanet26 Q87.8

Related Diseases for Sebastian Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence10.9
2myh9 related thrombocytopenia10.1

Clinical Features for Sebastian Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

192445,605249

Clinical synopsis from OMIM:

605249

Symptoms:

49 (show all 20)
  • joint/articular deformation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • high vaulted/narrow palate
  • short stature/dwarfism/nanism
  • microcephaly
  • cardiac rhythm disorder/arrhythmia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glossoptosis
  • metacarpal anomalies/archibald's sign
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • anodontia/oligodontia/hypodontia
  • low hair line-front
  • terminal/third phalangeal bone of fingers hypoplasia
  • camptodactyly of fingers
  • anomalies of nose and olfaction
  • tapered fingers
  • distal phalangeal bones of toes hypoplasia/absence

Drugs & Therapeutics for Sebastian Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Sebastian Syndrome

Drug clinical trials:

Search ClinicalTrials for Sebastian Syndrome

Search NIH Clinical Center for Sebastian Syndrome

Search CenterWatch for Sebastian Syndrome

Genetic Tests for Sebastian Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Sebastian Syndrome:

id Genetic test Affiliating Genes
1 Sebastian Syndrome20 22 MYH9

Anatomical Context for Sebastian Syndrome

Animal Models for Sebastian Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Sebastian Syndrome

Sources:
51PubMed
See all sources

Articles related to Sebastian Syndrome:

(show all 12)
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
Sebastian platelet syndrome: a hereditary macrothrombocytopenia. (14601703)
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
Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes. (11943476)
2002
7
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. (12217806)
2002
8
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). (11159552)
2001
9
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. (11590545)
2001
10
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. (10973259)
2000
11
Sebastian syndrome: case report and review of the literature. (10331513)
1999
12
Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. (2176899)
1990

Genetic Variations for Sebastian Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Sebastian Syndrome:

63
id Symbol AA change Variation SNP ID
1MYH9p.Arg702CysVAR_010792
2MYH9p.Arg1165CysVAR_010795
3MYH9p.Glu1841LysVAR_010797
4MYH9p.Lys373AsnVAR_018310
5MYH9p.Arg1165LeuVAR_018313
6MYH9p.Asp1424AsnVAR_018316

Expression for genes affiliated with Sebastian Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Sebastian Syndrome

Search GEO for disease gene expression data for Sebastian Syndrome.

Pathways for genes affiliated with Sebastian Syndrome

Compounds for genes affiliated with Sebastian Syndrome

GO Terms for genes affiliated with Sebastian Syndrome

Products for genes affiliated with Sebastian Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sebastian Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet