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Thrombophilia due to protein C deficiency, autosomal recessive(THPH4)

MedGen UID:
394120
Concept ID:
C2676759
Disease or Syndrome
Synonyms: PROC DEFICIENCY, AUTOSOMAL RECESSIVE; PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
 
Gene (location): PROC (2q14.3)
 
Monarch Initiative: MONDO:0012860
OMIM®: 612304

Definition

Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia (Millar et al., 2000). [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 palsy
MedGen UID:
854
Concept ID:
C0007789
Disease or Syndrome
Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.
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.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Thrombophilia
MedGen UID:
98306
Concept ID:
C0398623
Disease or Syndrome
An abnormality of coagulation associated with an increased risk of thrombosis.
Reduced protein C activity
MedGen UID:
96016
Concept ID:
C0398625
Disease or Syndrome
An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.
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).
Recurrent deep vein thrombosis
MedGen UID:
319764
Concept ID:
C1735901
Pathologic Function
Repeated episodes of the formation of a blot clot in a deep vein.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
Purpura (from Latin
Vitreous hemorrhage
MedGen UID:
12119
Concept ID:
C0042909
Pathologic Function
Bleeding within the vitreous compartment of the eye.

Recent clinical studies

Etiology

Milleret C, Epiard C, Douchin S, Pernod G, Debillon T
Arch Pediatr 2017 Apr;24(4):363-366. Epub 2017 Mar 1 doi: 10.1016/j.arcped.2017.01.007. PMID: 28259509
Manco-Johnson MJ, Bomgaars L, Palascak J, Shapiro A, Geil J, Fritsch S, Pavlova BG, Gelmont D
Thromb Haemost 2016 Jul 4;116(1):58-68. Epub 2016 Apr 7 doi: 10.1160/TH15-10-0786. PMID: 27052576

Diagnosis

Boucher AA, Luchtman-Jones L, Nathan JD, Palumbo JS
Am J Hematol 2018 Mar;93(3):462-466. Epub 2018 Jan 25 doi: 10.1002/ajh.24998. PMID: 29218739

Therapy

Boucher AA, Luchtman-Jones L, Nathan JD, Palumbo JS
Am J Hematol 2018 Mar;93(3):462-466. Epub 2018 Jan 25 doi: 10.1002/ajh.24998. PMID: 29218739
Milleret C, Epiard C, Douchin S, Pernod G, Debillon T
Arch Pediatr 2017 Apr;24(4):363-366. Epub 2017 Mar 1 doi: 10.1016/j.arcped.2017.01.007. PMID: 28259509
Manco-Johnson MJ, Bomgaars L, Palascak J, Shapiro A, Geil J, Fritsch S, Pavlova BG, Gelmont D
Thromb Haemost 2016 Jul 4;116(1):58-68. Epub 2016 Apr 7 doi: 10.1160/TH15-10-0786. PMID: 27052576

Prognosis

Milleret C, Epiard C, Douchin S, Pernod G, Debillon T
Arch Pediatr 2017 Apr;24(4):363-366. Epub 2017 Mar 1 doi: 10.1016/j.arcped.2017.01.007. PMID: 28259509

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