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hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

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

MONDO:0013143

Also known as:hereditary thrombophilia due to congenital HRG deficiencythrombophilia 11 due to HRG deficiencyTHPH11

Overview

GeneticsAutosomal dominant · HRG (chr 3)

Clinical Presentation

Features include always present findings: Decreased level of histidine-rich glycoprotein. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	1	Decreased level of histidine-rich glycoprotein

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HRG encodes histidine rich glycoprotein (525 aa). Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Highest expression in Liver (596.2 TPM) and Kidney Medulla (10.1 TPM).

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency has been associated with mutations in the HRG gene on chromosome 3.

The HRG protein participates in histidine-rich glycoprotein + plasminogen histidine-rich glycoprotein:plasminogen, histidine-rich glycoprotein:plasminogen histidine-rich glycoprotein + plasminogen, and Regulation of FXIIa and plasma kallikrein activity pathways.

HRG is classified as a druggable target (Cell Surface, Druggable Genome, Kinase, and Protease Inhibitor categories) with score 26.1.

Diagnosis

Genetic testing for HRG is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613116

Orphanet

European rare disease database

Orphanet:217467

GARD

Genetic and Rare Diseases Info Center

GARD:17125

Questions for Your Care Team

→Should I pursue genetic testing for HRG, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team