SEBASTIAN SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: SEBASTIAN PLATELET SYNDROME
MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS
SBS
Number of Symptoms 15
OrphanetNr:
OMIM Id: 605249
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000421) Epistaxis 85 / 7739
2
(HPO:0000518) Cataract 454 / 7739
3
(HPO:0000365) Hearing impairment 539 / 7739
4
(HPO:0003010) Prolonged bleeding time 88 / 7739
5
(HPO:0001873) Thrombocytopenia 224 / 7739
6
(HPO:0001902) Giant platelets 11 / 7739
7
(HPO:0008264) Neutrophil inclusion bodies 3 / 7739
8
(OMIM) Leukocyte inclusion bodies (Dohle-like bodies) 2 / 7739
9
(OMIM) Mildly prolonged bleeding time 10-12 minutes 1 / 7739
10
(OMIM) Normal platelet aggregation response to arachidonic acid (AA), adenosine 5'-diphosphate (ADP), collagen, and ristocetin 1 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Median mean platelet volume (MPV) 18fl 1 / 7739
13
(OMIM) Mild to moderate thrombocytopenia (40-120 x 10(9)/l) 1 / 7739
14
(OMIM) No nephritis 1 / 7739
15
(OMIM) Asymptomatic to mild bleeding episodes (epistaxis, postoperative hemorrhage) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...

Clinical Description OMIM Greinacher et al. (1990) described the Sebastian platelet syndrome, a variant of hereditary macrothrombocytopenia combined with the presence of neutrophil inclusions that differed from those found in patients with May-Hegglin anomaly (155100), the Chediak-Higashi syndrome (214500), or individuals ...
Molecular genetics OMIM The May-Hegglin/Fechtner Syndrome Consortium (2000) identified a heterozygous mutation in the MYH9 gene (160775.0003) in a patient with Sebastian syndrome.