Congenital factor XIII deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Fibrin-stabilizing factor deficiency
Number of Symptoms 8
OrphanetNr: 331
OMIM Id: 613225
613235
ICD-10: D68.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.05 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

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:0000421) Epistaxis 85 / 7739
2
 (HPO:0005261) Joint hemorrhage 17 / 7739
3
 (HPO:0007420) Spontaneous hematomas 9 / 7739
4
 (HPO:0000978) Bruising susceptibility 123 / 7739
5
 (HPO:0002170) Intracranial hemorrhage 40 / 7739
6
 (HPO:0008357) Reduced factor XIII activity 3 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (HPO:0003577) Congenital onset 133 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: