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IllnessSebastian syndrome, differential diagnosis

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Summary

Short information

A comprehensive panel for Sebastian syndrome, differential diagnosis, containing 1 guideline-curated core gene and altogeher 17 curated genes accordin to the clinical suspision

ID
SP7223
Number of genes
1 Accredited laboratory test
Examined sequence length
5,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MYH95883NM_002473.6AD

Informations about the disease

Synonyms
  • Alias: Alport syndrome with macrothrombocytopenia (MYH9)
  • Alias: Bleeding disorder, platelet type, 6; BDPLT6 (MYH9)
  • Alias: Döhle leukocyte inclusions with giant platelets (MYH9)
  • Alias: Epstein syndrome (MYH9)
  • Alias: Fechtner syndrome (MYH9)
  • Alias: Giant platelet syndrome with thrombocytopenia (MYH9)
  • Alias: Macrothrombocytopenia and progressive sensorineural deafness (MYH9)
  • Alias: Macrothrombocytopenia with dispersed leukocyte inclusions (MYH9)
  • Alias: Macrothrombocytopenia with leukocyte inclusions (MYH9)
  • Alias: Macrothrombocytopenia, nephritis + deafness (MYH9)
  • Alias: Macrothrombocytopenia, nephritis, deafness and leukocyte inclusions (MYH9)
  • Alias: May-Hegglin anomalia (MYH9)
  • Alias: Sebastian platelet sydrome (MYH9)
  • Allelic: Cardiac valvular dysplasia, XL (FLNA)
  • Allelic: Deafness, AD 17 (MYH9)
  • Allelic: FG syndrome 2 (FLNA)
  • Allelic: Frontometaphyseal dysplasia 1 (FLNA)
  • Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
  • Allelic: Melnick-Needles syndrome (FLNA)
  • Allelic: Myocardial infarction, susceptibility to (ITGB3)
  • Allelic: Nonaka myopathy (GNE)
  • Allelic: Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
  • Allelic: Otopalatodigital syndrome, type I (FLNA)
  • Allelic: Otopalatodigital syndrome, type II (FLNA)
  • Allelic: Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
  • Allelic: Terminal osseous dysplasia (FLNA)
  • Allelic: Thrombocytopenia, neonatal alloimmune (ITGB3)
  • Bernard-Soulier syndrome, type A1, AR (GP1BA)
  • Bernard-Soulier syndrome, type A2, AD (GP1BA)
  • Bernard-Soulier syndrome, type B (GP1BB)
  • Bernard-Soulier syndrome, type C (GP9)
  • Bleeding disorder, platelet-type, 15 (ACTN1)
  • Bleeding disorder, platelet-type, 16, AD (ITGA2B)
  • Bleeding disorder, platelet-type, 20 (SLFN14)
  • Bleeding disorder, platelet-type, 21 (FLI1)
  • Bleeding disorder, platelet-type, 24, AD (ITGB3)
  • Congenital short bowel syndrome (FLNA)
  • Deafness, AD 1, +/- thrombocytopenia (DIAPH1)
  • Giant platelet disorder, isolated (GP1BB)
  • Glanzmann thrombasthenia 1 (ITGA2B)
  • Glanzmann thrombasthenia 2 (ITGB3)
  • Gray platelet syndrome (NBEAL2)
  • Heterotopia, periventricular, 1 (FLNA)
  • Macrothrombocytopenia + granulocyte inclusions +/- nephritis/sensorineural hearing loss (MYH9)
  • Macrothrombocytopenia, isolated, 1, AD (TUBB1)
  • Purpura, posttransfusion (ITGB3)
  • Sialuria (GNE)
  • Takenouchi-Kosaki syndrome (CDC42)
  • Thrombocytopenia 6 (SRC)
  • Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
  • von Willebrand disease, platelet-type (GP1BA)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined