PASSOVOY FACTOR DEFECT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 168830
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:0000132) Menorrhagia 40 / 7739
2
(HPO:0000421) Epistaxis 85 / 7739
3
(HPO:0000978) Bruising susceptibility 123 / 7739
4
(HPO:0001892) Abnormal bleeding 85 / 7739
5
(HPO:0003645) Prolonged partial thromboplastin time 20 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(HPO:0003828) Variable expressivity 130 / 7739
8
(OMIM) Normal levels of known coagulation factors 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Passovoy factor defect was originally described as an autosomal dominant bleeding disorder characterized by a prolonged activated partial thromboplastin time (APTT) (Hougie et al., 1975). However, further characterization of supposedly affected individuals has identified other causes for ...
Clinical Description OMIM Hougie et al. (1975) described the Passovoy family in which 5 sibs and the paternal grandmother had easy bruising and a moderate bleeding diathesis. Laboratory studies showed prolonged partial thromboplastin times and normal levels of all known clotting ...