FACTOR XIII, A SUBUNIT, DEFICIENCY OF

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 613225
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:0000225) Gingival bleeding 28 / 7739
2
(HPO:0000421) Epistaxis 85 / 7739
3
(HPO:0005261) Joint hemorrhage 17 / 7739
4
(HPO:0000978) Bruising susceptibility 123 / 7739
5
(HPO:0001933) Subcutaneous hemorrhage 50 / 7739
6
(HPO:0001892) Abnormal bleeding 85 / 7739
7
(OMIM) Umbilical bleeding after birth 2 / 7739
8
(OMIM) Deficiency of factor XIII 2 / 7739
9
(MedDRA:10018852) Haematoma 6 / 7739
10
(OMIM) Patients with factor XIII alpha subunit deficiency usually also have decreased levels of plasma factor XIII beta subunit 2 / 7739
11
(OMIM) Intracranial bleeding 4 / 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 Duckert et al. (1960) first described factor XIII deficiency as a congenital hemorrhagic diathesis probably due to deficiency of fibrin stabilizing factor.

Aguercif et al. (1971) described a 7-year-old French girl with factor XIII deficiency who ...

Molecular genetics OMIM Board et al. (1988) defined 3 different haplotypes associated with factor XIIIA deficiency, which suggested heterogeneity in the mutations causing this disorder. No evidence of major gene deletion or rearrangement was found.

In a Japanese man ...