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

MedGen UID:: 416465
•Concept ID:: C2751090
•: Disease or Syndrome

Synonyms:	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; Thrombophilia, histidine-rich glycoprotein-related
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	HRG (3q27.3)

Monarch Initiative:	MONDO:0013143
OMIM®:	613116
Orphanet:	ORPHA217467

Definition

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

Thrombophilia

MedGen UID:: 98306
•Concept ID:: C0398623
•: Disease or Syndrome

An abnormality of coagulation associated with an increased risk of thrombosis.

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Recurrent thromboembolism

MedGen UID:: 892537
•Concept ID:: C4025286
•: Finding

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.

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Abnormal thrombosis

MedGen UID:: 871247
•Concept ID:: C4025731
•: 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).

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Decreased level of histidine-rich glycoprotein

MedGen UID:: 907379
•Concept ID:: C4280716
•: Finding

Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation

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Abnormality of blood and blood-forming tissues

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

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

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of coagulation
    - Thrombophilia
      - Hereditary thrombophilia
        Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

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

Definition

Clinical features

Term Hierarchy

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