ORPHA:217467

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

Synonyms: Hereditary thrombophilia due to congenital HRG deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Status: active

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Hereditary thrombophilia due to congenital HRG deficiency
fr	Thrombophilie héréditaire due au déficit congénital en histidine-rich (poly-L) glycoprotéine	Thrombophilie héréditaire due au déficit congénital en HRG
de	Thrombophilie, hereditäre, durch kongenitalen Mangel des Histidin-reichen (poly-L) Glykoproteins	Thrombophilie, hereditäre, durch kongenitalen HRG-Mangel
es	Trombofilia hereditaria por deficiencia congénita de glicoproteína rica en histidina (poli-L)	Trombofilia hereditaria por deficiencia congénita de HRG
it	Trombofilia ereditaria da deficit congenito della glicoproteina ricca in istidina (poli-L)	Trombofilia ereditaria da deficit congenito di HRG
nl	Erfelijke trombofilie als gevolg van congenitale histidine-rijke (poly-L) glycoproteïnedeficiëntie	Erfelijke trombofilie als gevolg van congenitale HRG-deficiëntie
pt	Trombofilia hereditária por deficiência congénita da glicoproteina rica em histidina (poly-L)
pl	Dziedziczna trombofilia z powodu wrodzonego niedoboru glikoproteiny bogatej w histydynę (poli-L)	Dziedziczna trombofilia z powodu wrodzonego niedoboru HRG
cs	Hereditární trombofilie způsobená vrozeným deficitem poly-L glykoproteinu bohatého na histidin	Hereditární trombofilie z vrozeného nedostatku HRG
uk	Спадкова тромбофілія внаслідок вродженого дефіциту глікопротеїнів, багатих на гістидин (полі-L)	Спадкова тромбофілія внаслідок вродженого дефіциту HRG
zh	先天性富组氨酸糖蛋白缺陷所致遗传性血栓形成	先天性HRG缺陷所致遗传性血栓形成
tr	Doğumsal histidinden zengin (poli-L) glikoprotein eksikliğine bağlı kalıtsal trombofili	Doğumsal HRG eksikliğine bağlı kalıtsal trombofili

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	613116	E		validated
ICD-10	D68.5	NTBT	attributed	validated
ICD-11	3B61.0Y	NTBT	index	validated
MONDO	0013143	E		validated
UMLS	C5190887	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97992Rare hematologic disease

Parents in the classifications (1):

ORPHA:217454Rare hereditary thrombophilia
rare genetic diseases; rare hematological diseases; rare systemic and rheumatological diseases; rare bone diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
HRG	Disease-causing germline mutation(s) in	Assessed	HGNC:5181	ENSG00000113905	142640	3q27.3	histidine rich glycoprotein	9414276[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/217467
This record as JSON: /data/d/217467.json