SERPINF2 gene related symptoms and diseases
All the information presented here about the SERPINF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SERPINF2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pain | Very Common - Between 80% and 100% cases |
| Bruising susceptibility | Very Common - Between 80% and 100% cases |
| Hematuria | Very Common - Between 80% and 100% cases |
| Abnormal bleeding | Very Common - Between 80% and 100% cases |
| Bone pain | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SERPINF2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Intracranial hemorrhage
- Neuroblastoma
- Gingival bleeding
- Ecchymosis
- Histiocytosis
- Joint hemorrhage
- Persistent bleeding after trauma
- Intramuscular hematoma
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SERPINF2 gene
Here you will find a list of rare diseases related to the SERPINF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY
Alternate names
CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY Is also known as antiplasmin deficiency, plasmin inhibitor deficiency
Description
Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder (see this term)caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.
Most common symptoms of CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY
- Pain
- Bruising susceptibility
- Hematuria
- Abnormal bleeding
- Bone pain
More info about CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY
Search interest in SERPINF2
Potential gene panels for SERPINF2 gene
Bleeding Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3
More info about this panel United States.
Coagulation Factor Deficiency Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Coagulation Factor Deficiency Sequencing Panel with CNV Detection that also includes the following genes: VWF MCFD2 VKORC1 F10 F11 F12 F13A1 F13B F2 F5
More info about this panel United States.
Anti-Plasmin Deficiency via SERPINF2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SERPINF2 gene.
More info about this panel United States.
SERPINF2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SERPINF2 gene.
More info about this panel United States.
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