THPH11
MCID: THR120
MIFTS: 17

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 58 76 74
Thrombophilia Due to Hrg Deficiency 58 13
Thph11 58 76
Hereditary Thrombophilia Due to Congenital Histidine-Rich Glycoprotein Deficiency 60
Hereditary Thrombophilia Due to Congenital Hrg Deficiency 60
Thrombophilia Due to Elevated Hrg 58

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
thrombophilia due to histidine-rich glycoprotein deficiency:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613116
MeSH 45 D019851
ICD10 via Orphanet 35 D68.5
Orphanet 60 ORPHA217467
SNOMED-CT via HPO 70 234467004 263681008 76612001
UMLS 74 C2751090

Summaries for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

UniProtKB/Swiss-Prot : 76 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). Related phenotypes are hypercoagulability and recurrent thromboembolism

Description from OMIM: 613116

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:

33 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 33 HP:0100724
2 recurrent thromboembolism 33 HP:0004831

Symptoms via clinical synopsis from OMIM:

58
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

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:

(showing 3, show less)
# Title Authors Year
1
Familial early-onset deep venous thrombosis associated with a novel HRG mutation. ( 29108964 )
2018
2
Histidine-rich glycoprotein (HRG) Tokushima 2: novel HRG deficiency, molecular and cellular characterization. ( 11057869 )
2000
3
HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein (HRG) deficiency. ( 9414276 )
1998

Variations for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

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

76 (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

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

6 (showing 5, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 HRG NM_000412.4(HRG): c.308G> A (p.Gly103Glu) single nucleotide variant Pathogenic rs121918122 GRCh37 Chromosome 3, 186387734: 186387734
2 HRG NM_000412.4(HRG): c.308G> A (p.Gly103Glu) single nucleotide variant Pathogenic rs121918122 GRCh38 Chromosome 3, 186669945: 186669945
3 HRG HRG, CYS223ARG single nucleotide variant Pathogenic
4 HRG NM_000412.4(HRG): c.271C> T (p.Pro91Ser) single nucleotide variant Pathogenic/Likely pathogenic rs761776963 GRCh37 Chromosome 3, 186386811: 186386811
5 HRG NM_000412.4(HRG): c.271C> T (p.Pro91Ser) single nucleotide variant Pathogenic/Likely pathogenic rs761776963 GRCh38 Chromosome 3, 186669022: 186669022

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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