THPH11
MCID: THR120
MIFTS: 22

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 72 6 70
Thrombophilia Due to Hrg Deficiency 57 12 29 13
Thph11 57 12 72
Hereditary Thrombophilia Due to Congenital Histidine-Rich Glycoprotein Deficiency 12 58
Hereditary Thrombophilia Due to Congenital Hrg Deficiency 12 58

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
thrombophilia due to histidine-rich glycoprotein deficiency:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111903
OMIM® 57 613116
OMIM Phenotypic Series 57 PS188050
MeSH 44 D019851
ICD10 via Orphanet 33 D68.5
Orphanet 58 ORPHA217467
SNOMED-CT via HPO 68 234467004 263681008 76612001
UMLS 70 C2751090

Summaries for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Disease Ontology : 12 A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has material basis in heterozygous mutation in HRG on chromosome 3q27.3.

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). Related phenotypes are hypercoagulability and recurrent thromboembolism

UniProtKB/Swiss-Prot : 72 Thrombophilia due to histidine-rich glycoprotein deficiency: A hemostatic disorder characterized by a tendency to thrombosis.

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:

31
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 31 HP:0100724
2 recurrent thromboembolism 31 HP:0004831

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
thrombophilia
recurrent thromboembolic disease

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

Clinical features from OMIM®:

613116 (Updated 05-Apr-2021)

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

Anatomical Context for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Publications for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

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

(show all 12)
# Title Authors PMID Year
1
Familial early-onset deep venous thrombosis associated with a novel HRG mutation. 6 57
29108964 2018
2
Histidine-rich glycoprotein (HRG) Tokushima 2: novel HRG deficiency, molecular and cellular characterization. 6 57
11057869 2000
3
HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein (HRG) deficiency. 6 57
9414276 1998
4
A new case of hereditary histidine-rich glycoprotein deficiency with familial thrombophilia. 57
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. 57
7769366 1995
6
Prevalence of elevated histidine-rich glycoprotein in patients with thrombophilia--a study of 695 patients. 57
8165641 1994
7
Hereditary increase of plasma histidine-rich glycoprotein associated with abnormal heparin binding (HRG Eindhoven). 57
8165607 1993
8
Congenital histidine-rich glycoprotein deficiency. 57
8236132 1993
9
Familial association of high levels of histidine-rich glycoprotein and plasminogen activator inhibitor-1 with venous thromboembolism. 57
8478593 1993
10
High levels of histidine-rich glycoprotein and thrombotic diathesis. Report of two unrelated families. 57
8475479 1993
11
Familial elevation of plasma histidine-rich glycoprotein. A case associated with recurrent venous thrombosis and high PAI-1 levels. 57
1412197 1992
12
Familial elevation of plasma histidine-rich glycoprotein in a family with thrombophilia. 57
3689697 1987

Variations for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HRG HRG, CYS223ARG SNV Pathogenic 374832 GRCh37:
GRCh38:
2 HRG NM_000412.5(HRG):c.880G>T (p.Glu294Ter) SNV Pathogenic 714985 rs140336956 GRCh37: 3:186394974-186394974
GRCh38: 3:186677185-186677185
3 HRG NM_000412.4(HRG):c.99del (p.Ala34fs) Deletion Pathogenic 453207 rs563237107 GRCh37: 3:186383917-186383917
GRCh38: 3:186666128-186666128
4 HRG NM_000412.5(HRG):c.124C>T (p.Arg42Ter) SNV Pathogenic 1034194 GRCh37: 3:186383944-186383944
GRCh38: 3:186666155-186666155
5 HRG NM_000412.4(HRG):c.271C>T (p.Pro91Ser) SNV Pathogenic 440913 rs761776963 GRCh37: 3:186386811-186386811
GRCh38: 3:186669022-186669022
6 HRG NM_000412.4(HRG):c.308G>A (p.Gly103Glu) SNV Pathogenic 14914 rs121918122 GRCh37: 3:186387734-186387734
GRCh38: 3:186669945-186669945

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

72
# 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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