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Thrombophilia due to protein S deficiency, autosomal recessive(THPH6)

MedGen UID:
482722
Concept ID:
C3281092
Disease or Syndrome
Synonym: THPH6
 
Gene (location): PROS1 (3q11.1)
 
Monarch Initiative: MONDO:0013791
OMIM®: 614514

Definition

Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage (Pung-amritt et al., 1999; Fischer et al., 2010), whereas others have recurrent thromboses later in childhood (Comp et al., 1984). See also autosomal dominant thrombophilia due to protein S deficiency (THPH5; 612336), a less severe disorder caused by heterozygous mutation in the PROS1 gene. [from OMIM]

Clinical features

From HPO
Pulmonary embolism
MedGen UID:
11027
Concept ID:
C0034065
Pathologic Function
An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
Cerebral hemorrhage
MedGen UID:
423648
Concept ID:
C2937358
Pathologic Function
Hemorrhage into the parenchyma of the brain.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Disseminated intravascular coagulation
MedGen UID:
41620
Concept ID:
C0012739
Disease or Syndrome
Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.
Arterial thrombosis
MedGen UID:
56253
Concept ID:
C0151942
Pathologic Function
The formation of a blood clot inside an artery.
Cerebral venous thrombosis
MedGen UID:
57743
Concept ID:
C0151945
Disease or Syndrome
Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.
Thrombophilia
MedGen UID:
98306
Concept ID:
C0398623
Disease or Syndrome
An abnormality of coagulation associated with an increased risk of thrombosis.
Superficial thrombophlebitis
MedGen UID:
266934
Concept ID:
C1510431
Disease or Syndrome
Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).
Reduced protein S activity
MedGen UID:
892328
Concept ID:
C4025284
Finding
An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
Purpura (from Latin
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.

Recent clinical studies

Etiology

Ohga S, Ishiguro A, Takahashi Y, Shima M, Taki M, Kaneko M, Fukushima K, Kang D, Hara T; Japan Childhood Thrombophilia Study Group
Pediatr Int 2013 Jun;55(3):267-71. doi: 10.1111/ped.12102. PMID: 23521084
Mohanty D, Das KC, al-Hussain H, Naglen P, Eklof B, Marouf R, Khamis A, al-Majdi M
Ann Hematol 1996 Dec;73(6):283-90. doi: 10.1007/s002770050242. PMID: 9003158

Diagnosis

Ohga S, Ishiguro A, Takahashi Y, Shima M, Taki M, Kaneko M, Fukushima K, Kang D, Hara T; Japan Childhood Thrombophilia Study Group
Pediatr Int 2013 Jun;55(3):267-71. doi: 10.1111/ped.12102. PMID: 23521084

Therapy

Ohga S, Ishiguro A, Takahashi Y, Shima M, Taki M, Kaneko M, Fukushima K, Kang D, Hara T; Japan Childhood Thrombophilia Study Group
Pediatr Int 2013 Jun;55(3):267-71. doi: 10.1111/ped.12102. PMID: 23521084

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