FACTOR XIII, B SUBUNIT, DEFICIENCY OF

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 613235
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000978) Bruising susceptibility 123 / 7739
2
(HPO:0004846) Prolonged bleeding after surgery 2 / 7739
3
(HPO:0001892) Abnormal bleeding 85 / 7739
4
(HPO:0011884) Abnormal umbilical stump bleeding 1 / 7739
5
(HPO:0008357) Reduced factor XIII activity 3 / 7739
6
(OMIM) Deficiency of factor XIII 2 / 7739
7
(OMIM) Postoperative bleeding 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(HPO:0003577) Congenital onset 133 / 7739
10
(OMIM) Umbilical bleeding after birth 2 / 7739
11
(OMIM) Patients with factor XIII alpha subunit deficiency usually also have decreased levels of plasma factor XIII beta subunit 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999).

Ichinose ...

Clinical Description OMIM Saito et al. (1990) reported a 32-year-old Japanese woman with deficiency of subunit B of factor XIII. It was not clear if she had bleeding from the umbilical stump after birth, as is commonly observed in F13 subunit ...
Molecular genetics OMIM In a Japanese patient with complete absence of the B subunit of factor XIII reported by Saito et al. (1990), Hashiguchi et al. (1993) found compound heterozygosity for 2 mutations in the F13B gene (134580.0001 and 134580.0002). ...