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Factor XIII, A subunit, deficiency of

MedGen UID:
442497
Concept ID:
C2750514
Disease or Syndrome
Synonym: Factor XIII subunit A deficiency
SNOMED CT: Hereditary factor XIII A subunit deficiency (439455002); Hereditary factor XIII type II deficiency (439455002); Hereditary factor XIII alpha subunit deficiency (439455002)
 
Gene (location): F13A1 (6p25.1)
 
HPO: HP:0040233
Monarch Initiative: MONDO:0013187
OMIM®: 613225

Definition

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 et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2. [from OMIM]

Additional description

From MedlinePlus Genetics
Acquired factor XIII deficiency becomes apparent later in life. People with the acquired form are less likely to have severe or life-threatening episodes of abnormal bleeding than those with the inherited form.

Signs and symptoms of inherited factor XIII deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. If the condition is not treated, affected individuals may have episodes of excessive and prolonged bleeding that can be life-threatening. Abnormal bleeding can occur after surgery or minor trauma. The condition can also cause spontaneous bleeding into the joints or muscles, leading to pain and disability. Women with inherited factor XIII deficiency tend to have heavy or prolonged menstrual bleeding (menorrhagia) and may experience recurrent pregnancy losses (miscarriages). Other signs and symptoms of inherited factor XIII deficiency include nosebleeds, bleeding of the gums, easy bruising, problems with wound healing, bleeding after surgery, and abnormal scar formation. Inherited factor XIII deficiency also increases the risk of spontaneous bleeding inside the skull (intracranial hemorrhage), which is the leading cause of death in people with this condition.

Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime.  https://medlineplus.gov/genetics/condition/factor-xiii-deficiency

Clinical features

From HPO
Joint hemorrhage
MedGen UID:
5479
Concept ID:
C0018924
Pathologic Function
Hemorrhage occurring within a joint.
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Hemorrhage occurring within the skull.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Pathologic Function
Hemorrhage affecting the gingiva.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Persistent bleeding after trauma
MedGen UID:
375403
Concept ID:
C1844374
Finding
Factor XIII, A subunit, deficiency of
MedGen UID:
442497
Concept ID:
C2750514
Disease or Syndrome
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 et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.
Abnormal umbilical stump bleeding
MedGen UID:
868740
Concept ID:
C4023145
Anatomical Abnormality
Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.
Reduced factor XIII activity
MedGen UID:
870254
Concept ID:
C4024692
Finding
Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.
Ecchymosis
MedGen UID:
8524
Concept ID:
C0013491
Finding
A purpuric lesion that is larger than 1 cm in diameter.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Spontaneous hematomas
MedGen UID:
306397
Concept ID:
C1697453
Disease or Syndrome
Spontaneous development of hematomas (hematoma) or bruises without significant trauma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFactor XIII, A subunit, deficiency of

Conditions with this feature

Factor XIII, A subunit, deficiency of
MedGen UID:
442497
Concept ID:
C2750514
Disease or Syndrome
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 et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.

Recent clinical studies

Etiology

Kerlin BA, Inbal A, Will A, Williams M, Garly ML, Jacobsen L, Kearney SL
J Thromb Haemost 2017 Aug;15(8):1601-1606. Epub 2017 Jul 10 doi: 10.1111/jth.13748. PMID: 28581691

Diagnosis

Kerlin BA, Inbal A, Will A, Williams M, Garly ML, Jacobsen L, Kearney SL
J Thromb Haemost 2017 Aug;15(8):1601-1606. Epub 2017 Jul 10 doi: 10.1111/jth.13748. PMID: 28581691
Ivaškevičius V, Goldmann G, Biswas A, Westhofen P, Thomas A, Marquardt N, Horneff S, Klein C, Rühl H, Pötzsch B, Oldenburg J
Hamostaseologie 2015;35 Suppl 1:S32-5. PMID: 26540128

Therapy

Kerlin BA, Inbal A, Will A, Williams M, Garly ML, Jacobsen L, Kearney SL
J Thromb Haemost 2017 Aug;15(8):1601-1606. Epub 2017 Jul 10 doi: 10.1111/jth.13748. PMID: 28581691

Prognosis

Ivaškevičius V, Goldmann G, Biswas A, Westhofen P, Thomas A, Marquardt N, Horneff S, Klein C, Rühl H, Pötzsch B, Oldenburg J
Hamostaseologie 2015;35 Suppl 1:S32-5. PMID: 26540128

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