MCID: THR120
MIFTS: 16

Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Categories: Genetic diseases, Bone diseases, Blood 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 75 73
Thrombophilia Due to Hrg Deficiency 57 13
Thph11 57 75
Hereditary Thrombophilia Due to Congenital Histidine-Rich Glycoprotein Deficiency 59
Hereditary Thrombophilia Due to Congenital Hrg Deficiency 59
Thrombophilia Due to Elevated Hrg 57

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:

OMIM 57 613116
Orphanet 59 ORPHA217467
ICD10 via Orphanet 34 D68.5
MeSH 44 D019851
SNOMED-CT via HPO 69 263681008 234467004 76612001
UMLS 73 C2751090

Summaries for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

UniProtKB/Swiss-Prot : 75 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 recurrent thromboembolism and hypercoagulability

Description from OMIM: 613116

Related Diseases for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

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

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

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

32
# Description HPO Frequency HPO Source Accession
1 recurrent thromboembolism 32 HP:0004831
2 hypercoagulability 32 HP:0100724

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

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

41
Bone

Publications for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

Variations for Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency

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

75
# 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
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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