BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
|
25949529 |
2015 |
BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
ACTN1 mutations cause congenital macrothrombocytopenia.
|
23434115 |
2013 |
BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
|
24069336 |
2013 |
BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
BLEEDING DISORDER, PLATELET-TYPE, 15
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Macrothrombocytopenia
|
0.480 |
Biomarker
|
disease |
BEFREE |
Investigation of calmodulin-like and rod domain mutations suggests common molecular mechanism for α-actinin-1-linked congenital macrothrombocytopenia.
|
31365757 |
2020 |
Macrothrombocytopenia
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
Macrothrombocytopenia
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
Macrothrombocytopenia
|
0.480 |
Biomarker
|
disease |
BEFREE |
The ACTN1 gene has been implicated in inherited macrothrombocytopenia.
|
31237726 |
2019 |
Macrothrombocytopenia
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura.
|
30124235 |
2018 |
Macrothrombocytopenia
|
0.480 |
Biomarker
|
disease |
BEFREE |
ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia.
|
28562514 |
2017 |
Macrothrombocytopenia
|
0.480 |
Biomarker
|
disease |
BEFREE |
Our findings suggest a novel mechanism for the pathogenesis of ACTN1-related macrothrombocytopenia that does not involve functional domain mutations.
|
26453073 |
2016 |
Macrothrombocytopenia
|
0.480 |
Biomarker
|
disease |
BEFREE |
The clinical and laboratory findings of 31 affected individuals confirmed that ACTN1-RT is a mild macrothrombocytopenia with low risk for bleeding.
|
25361813 |
2015 |
Macrothrombocytopenia
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Individuals with ACTN1 variants presented with moderate macrothrombocytopenia with anisocytosis but were either asymptomatic or had only a modest bleeding tendency.
|
23434115 |
2013 |
Macrothrombocytopenia
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln) in the alpha-actinin 1 gene (ACTN1) that segregated with macrothrombocytopenia in this large pedigree.
|
24069336 |
2013 |
Macrothrombocytopenia
|
0.480 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Macrothrombocytopenia
|
0.480 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Autosomal dominant macrothrombocytopenia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ACTN1, the gene encoding the actin-crosslinking protein α-actinin-1, cause autosomal dominant macrothrombocytopenia.
|
26453073 |
2016 |
Autosomal dominant macrothrombocytopenia
|
0.320 |
GermlineCausalMutation
|
disease |
ORPHANET |
ACTN1 mutations cause congenital macrothrombocytopenia.
|
23434115 |
2013 |
Autosomal dominant macrothrombocytopenia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
|
24069336 |
2013 |
Liver Cirrhosis, Experimental
|
0.300 |
Biomarker
|
disease |
CTD_human |
Systems level analysis and identification of pathways and networks associated with liver fibrosis.
|
25380136 |
2014 |
Thrombocytopenia
|
0.170 |
GeneticVariation
|
phenotype |
BEFREE |
To decipher the spectrum of variants and phenotype of ACTN1-related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia.
|
31237726 |
2019 |
Thrombocytopenia
|
0.170 |
Biomarker
|
phenotype |
BEFREE |
We concluded that ACTN1-RT is the fourth most frequent form of IT worldwide and it is characterized by platelet macrocytosis in all affected subjects and mild thrombocytopenia in less than 80% of cases.
|
30351444 |
2018 |