Scott syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PROTHROMBIN CONSUMPTION INHIBITOR, FAMILIAL
BDPLT7
PROTHROMBIN CONVERSION DEFECT, FAMILIAL
PROTHROMBIN CONSUMPTION DEFICIENCY
BLEEDING DISORDER, PLATELET-TYPE, 7
BLEEDING ABNORMALITY DUE TO DEFICIENCY OF PLATELET BINDING OF FACTOR X
SCTS
Number of Symptoms 7
OrphanetNr: 806
OMIM Id: 262890
ICD-10: D69.8
UMLs: C0796149
MeSH:
MedDRA:
Snomed: 128098009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Rare hemorrhagic disorder due to a platelets receptors defect
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001892) Abnormal bleeding 85 / 7739
2
 (HPO:0008354) Factor X activation deficiency 1 / 7739
3
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
 (OMIM) Impaired factor VIIIa binding 1 / 7739
5
 (OMIM) Defect in stimulated platelet capacity to expose surface phosphatidylserine 1 / 7739
6
 (OMIM) Prothrombin activation deficiency 1 / 7739
7
 (OMIM) Platelet receptor deficiency 1 / 7739

Associated genes:

ANO6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Scott syndrome is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents (Munnix et al., 2003).
Clinical Description OMIM In 4 generations of a family (with 1 instance of male-to-male transmission), Robinson et al. (1967) described a mild bleeding disorder with no spontaneous hemorrhage. Analysis of blood coagulation in 2 generations revealed normal values for all clotting factors ...
Molecular genetics OMIM Suzuki et al. (2010) identified homozygosity for a splice site mutation in TMEM16F (608663.0001) in the patient reported by Kojima et al. (1994) and by Weiss et al., (1979).