MCID: SBS006
MIFTS: 28

Sebastian Syndrome malady

Fetal diseases category

Summaries for Sebastian Syndrome

About this section
Sources:
46OMIM, 32MalaCards
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 anodontia/oligodontia/hypodontia, distal phalangeal bones of toes hypoplasia/absence and joint/articular deformation. An important gene associated with Sebastian Syndrome is MYH9 (myosin, heavy chain 9, non-muscle). Affiliated tissues include eye and bone.

Description from OMIM:46 192445,605249

Aliases & Classifications for Sebastian Syndrome

About this section
Sources:
48Orphanet, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 60UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

sebastian syndrome 20 22 46 44 60
ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence 48
stoll-kieny-dott syndrome 48


External Ids:

OMIM46 192445
ICD10 via Orphanet26 Q87.8

Related Diseases for Sebastian Syndrome

About this section
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 sequence10.8
2myh9 related thrombocytopenia10.1

Clinical Features for Sebastian Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

192445,605249

Clinical synopsis from OMIM:

605249

Symptoms:

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

Drugs & Therapeutics for Sebastian Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Sebastian Syndrome:

32
Eye, Bone

Animal Models for Sebastian Syndrome or affiliated genes

About this section

Publications for Sebastian Syndrome

About this section

Genetic Variations for Sebastian Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

Expression for genes affiliated with Sebastian Syndrome

About this section
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

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

Sources for Sebastian Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet