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

General Information (adopted from Orphanet):

Synonyms, Signs: THPH11 THROMBOPHILIA DUE TO ELEVATED HISTIDINE-RICH GLYCOPROTEIN, INCLUDED
Hereditary thrombophilia due to congenital HRG deficiency
Number of Symptoms 3
OrphanetNr: 217467
OMIM Id: 613116
ICD-10: D68.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hereditary thrombophilia
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0100724) Hypercoagulability 15 / 7739
2
(HPO:0001977) Abnormal thrombosis 11 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shigekiyo et al. (1993) identified a family with congenital HRG deficiency. The proband, a 43-year-old woman, suffered from right transverse sinus thrombosis during oral contraceptive treatment. Affected members of the family (5 in 3 generations) had plasma HRG ...
Molecular genetics OMIM In a 43-year-old woman with HRG deficiency who suffered from right transverse sinus thrombosis during oral contraceptive treatment, Shigekiyo et al. (1998) identified a 429G-A transition, which caused a gly85-to-glu substitution (142640.0001) in the first cystatin-like domain of ...