THPH11
MCID: THR120
MIFTS: 23

Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency (THPH11)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

MalaCards integrated aliases for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency:

Name: Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency 57 74 72
Thrombophilia Due to Hrg Deficiency 57 29 13
Thrombophilia Due to Elevated Hrg 57 29
Thph11 57 74
Hereditary Thrombophilia Due to Congenital Histidine-Rich Glycoprotein Deficiency 59
Hereditary Thrombophilia Due to Congenital Hrg Deficiency 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
thrombophilia due to histidine-rich glycoprotein deficiency:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D019851
ICD10 via Orphanet 34 D68.5
Orphanet 59 ORPHA217467
UMLS 72 C2751090

Summaries for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

UniProtKB/Swiss-Prot : 74 Thrombophilia due to histidine-rich glycoprotein deficiency: A hemostatic disorder characterized by a tendency to thrombosis.

MalaCards based summary : Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency, is also known as thrombophilia due to hrg deficiency. An important gene associated with Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency is HRG (Histidine Rich Glycoprotein). Affiliated tissues include bone, and related phenotypes are hypercoagulability and recurrent thromboembolism

More information from OMIM: 613116 PS188050

Related Diseases for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Symptoms & Phenotypes for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Human phenotypes related to Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency:

32 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 32 HP:0100724
2 recurrent thromboembolism 32 HP:0004831

Symptoms via clinical synopsis from OMIM:

57
Hematology:
thrombophilia
recurrent thromboembolic disease

Laboratory Abnormalities:
decreased levels of histidine-rich glycoprotein (hrg)

Clinical features from OMIM:

613116

Drugs & Therapeutics for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Search Clinical Trials , NIH Clinical Center for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Genetic Tests for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Genetic tests related to Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency:

# Genetic test Affiliating Genes
1 Thrombophilia Due to Hrg Deficiency 29
2 Thrombophilia Due to Elevated Hrg 29

Anatomical Context for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

MalaCards organs/tissues related to Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency:

41
Bone

Publications for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Articles related to Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency:

(showing 12, show less)
# Title Authors PMID Year
1
Familial early-onset deep venous thrombosis associated with a novel HRG mutation. 8 71
29108964 2018
2
Histidine-rich glycoprotein (HRG) Tokushima 2: novel HRG deficiency, molecular and cellular characterization. 8 71
11057869 2000
3
HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein (HRG) deficiency. 8 71
9414276 1998
4
A new case of hereditary histidine-rich glycoprotein deficiency with familial thrombophilia. 8
8815595 1996
5
Congenital deficiency of histidine-rich glycoprotein: failure to identify abnormalities in routine laboratory assays of hemostatic function, immunologic function, and trace elements. 8
7769366 1995
6
Prevalence of elevated histidine-rich glycoprotein in patients with thrombophilia--a study of 695 patients. 8
8165641 1994
7
Hereditary increase of plasma histidine-rich glycoprotein associated with abnormal heparin binding (HRG Eindhoven). 8
8165607 1993
8
Congenital histidine-rich glycoprotein deficiency. 8
8236132 1993
9
Familial association of high levels of histidine-rich glycoprotein and plasminogen activator inhibitor-1 with venous thromboembolism. 8
8478593 1993
10
High levels of histidine-rich glycoprotein and thrombotic diathesis. Report of two unrelated families. 8
8475479 1993
11
Familial elevation of plasma histidine-rich glycoprotein. A case associated with recurrent venous thrombosis and high PAI-1 levels. 8
1412197 1992
12
Familial elevation of plasma histidine-rich glycoprotein in a family with thrombophilia. 8
3689697 1987

Variations for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

ClinVar genetic disease variations for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency:

6 (showing 3, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HRG HRG, CYS223ARG single nucleotide variant Pathogenic
2 HRG NM_000412.4(HRG): c.308G> A (p.Gly103Glu) single nucleotide variant Pathogenic rs121918122 3:186387734-186387734 3:186669945-186669945
3 HRG NM_000412.4(HRG): c.271C> T (p.Pro91Ser) single nucleotide variant Pathogenic/Likely pathogenic rs761776963 3:186386811-186386811 3:186669022-186669022

UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency:

74 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 HRG p.Gly103Glu VAR_063000 rs121918122
2 HRG p.Cys241Arg VAR_063001 rs2276804

Expression for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Search GEO for disease gene expression data for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency.

Pathways for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

GO Terms for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Sources for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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