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Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency(THPH11)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; Thrombophilia, histidine-rich glycoprotein-related
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): HRG (3q27.3)
Monarch Initiative: MONDO:0013143
OMIM®: 613116
Orphanet: ORPHA217467


Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. [from ORDO]

Clinical features

From HPO
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormality of coagulation associated with an increased risk of thrombosis.
Recurrent thromboembolism
MedGen UID:
Concept ID:
Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.
Abnormal thrombosis
MedGen UID:
Concept ID:
Anatomical Abnormality
Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
Decreased level of histidine-rich glycoprotein
MedGen UID:
Concept ID:
Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Follow this link to review classifications for Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency in Orphanet.

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