Congenital alpha2 antiplasmin deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: ANTIPLASMIN DEFICIENCY
PLASMIN INHIBITOR DEFICIENCY
Number of Symptoms 12
OrphanetNr: 79
OMIM Id: 262850
ICD-10: D68.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hemorrhagic disorder due to a constitutional coagulation factors defect
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0005261) Joint hemorrhage 17 / 7739
2
(HPO:0000978) Bruising susceptibility 123 / 7739
3
(HPO:0001892) Abnormal bleeding 85 / 7739
4
(HPO:0001934) Persistent bleeding after trauma 8 / 7739
5
(HPO:0012151) Hemothorax 1 / 7739
6
(OMIM) Shortened whole blood clot lysis time 1 / 7739
7
(OMIM) Ecchymoses after minor trauma 1 / 7739
8
(OMIM) No circulating plasma alpha-2-plasmin inhibitor activity 1 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Normal plasma concentrations of alpha-2-AP antigen 1 / 7739
11
(OMIM) Alpha-2-plasmin inhibitor deficiency 1 / 7739
12
(OMIM) Shortened euglobulin-lysis time 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Alpha-2-plasmin inhibitor deficiency is a rare autosomal recessive hemorrhagic diathesis. Most bleeds are severe, appear during childhood, and, in a few cases, umbilical bleeding is the first manifestation. Some homozygous patients present only moderate bleeding (Favier et al., ...
Diagnosis OMIM Favier et al. (2001) stated that no simple coagulation assay points to the diagnosis of PLI deficiency. Therefore, a specific PLI assay should be performed when a patient has a bleeding diathesis that the usual screening tests do ...
Clinical Description OMIM An inherited hemorrhagic diathesis due to plasmin inhibitor deficiency was described by Koie et al. (1978) in a 25-year-old Okinawa man. He had suffered prolonged bleeding and ecchymoses after minor trauma, spontaneous joint hemorrhage, and one episode of ...
Molecular genetics OMIM In the patient with inherited hemorrhagic diathesis due to plasmin inhibitor deficiency described by Koie et al. (1978), Miura et al. (1989) identified homozygosity for a mutation in the PLI gene (613168.0002). Miura et al. (1989) identified homozygosity ...