FPD
MCID: RNX001
MIFTS: 13

Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies (FPD)

Categories: Blood diseases, Cancer diseases, Genetic diseases

Aliases & Classifications for Runx1 Familial Platelet Disorder with Associated Myeloid...

MalaCards integrated aliases for Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies:

Name: Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies 25
Familial Platelet Disorder / Acute Myeloid Leukemia 25
Runx1 Familial Platelet Disorder 25
Fpd/aml 25
Fpd 25

Characteristics:

GeneReviews:

25
Penetrance The penetrance of germline runx1 pathogenic variants is unknown. a minority of individuals have no clinical or laboratory features.

Classifications:



Summaries for Runx1 Familial Platelet Disorder with Associated Myeloid...

MalaCards based summary : Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies, also known as familial platelet disorder / acute myeloid leukemia, is related to leukemia, acute myeloid and platelet disorder, familial, with associated myeloid malignancy. An important gene associated with Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies is RUNX1 (RUNX Family Transcription Factor 1). Affiliated tissues include myeloid.

GeneReviews: NBK568319

Related Diseases for Runx1 Familial Platelet Disorder with Associated Myeloid...

Diseases related to Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 leukemia, acute myeloid 10.3
2 platelet disorder, familial, with associated myeloid malignancy 10.3
3 myelodysplastic syndrome 10.3
4 leukemia 10.3
5 blood platelet disease 10.3
6 dermatitis 10.3
7 thrombocytopenia 10.2
8 myeloid leukemia 10.2
9 hair whorl 10.1
10 chronic myelomonocytic leukemia 10.1
11 acute leukemia 10.1
12 periodontitis 10.0
13 spondylolisthesis 9.9
14 triiodothyronine receptor auxiliary protein 9.9
15 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.9
16 bruxism 9.9
17 neuroblastoma 9.9

Graphical network of the top 20 diseases related to Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies:



Diseases related to Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies

Symptoms & Phenotypes for Runx1 Familial Platelet Disorder with Associated Myeloid...

Drugs & Therapeutics for Runx1 Familial Platelet Disorder with Associated Myeloid...

Search Clinical Trials , NIH Clinical Center for Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies

Genetic Tests for Runx1 Familial Platelet Disorder with Associated Myeloid...

Anatomical Context for Runx1 Familial Platelet Disorder with Associated Myeloid...

MalaCards organs/tissues related to Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies:

40
Myeloid

Publications for Runx1 Familial Platelet Disorder with Associated Myeloid...

Articles related to Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies:

(show all 17)
# Title Authors PMID Year
1
Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms. 61 25
32060405 2020
2
First description of revertant mosaicism in familial platelet disorder with predisposition to acute myelogenous leukemia: correlation with the clinical phenotype. 25
33054100 2020
3
High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML. 25
32315381 2020
4
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. 25
32208489 2020
5
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. 25
31648317 2019
6
Role of RUNX1 in hematological malignancies. 25
28179279 2017
7
RUNX1 Mutations in Inherited and Sporadic Leukemia. 25
29326930 2017
8
Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia. 25
26316320 2016
9
Timing, rates and spectra of human germline mutation. 25
26656846 2016
10
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
11
The RUNX family in breast cancer: relationships with estrogen signaling. 25
23045283 2013
12
Familial myelodysplastic syndromes: a review of the literature. 25
21606161 2011
13
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 25
18723428 2008
14
Nomenclature for Runt-related (RUNX) proteins. 25
15156174 2004
15
RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies 61
33661592 2021
16
Restoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation. 61
33560381 2021
17
Longitudinal sequencing of RUNX1 familial platelet disorder: new insights into genetic mechanisms of transformation to myeloid malignancies. 61
31124578 2019

Variations for Runx1 Familial Platelet Disorder with Associated Myeloid...

Expression for Runx1 Familial Platelet Disorder with Associated Myeloid...

Search GEO for disease gene expression data for Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies.

Pathways for Runx1 Familial Platelet Disorder with Associated Myeloid...

GO Terms for Runx1 Familial Platelet Disorder with Associated Myeloid...

Sources for Runx1 Familial Platelet Disorder with Associated Myeloid...

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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