FPDMM
MCID: PLT019
MIFTS: 40

Platelet Disorder, Familial, with Associated Myeloid Malignancy (FPDMM)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Platelet Disorder, Familial, with Associated Myeloid Malignancy

MalaCards integrated aliases for Platelet Disorder, Familial, with Associated Myeloid Malignancy:

Name: Platelet Disorder, Familial, with Associated Myeloid Malignancy 57 13 39 70
Familial Platelet Disorder with Associated Myeloid Malignancy 20 58 72 29 6
Fpdmm 57 20 58 72
Fpd/aml 57 20 58
Familial Platelet Disorder with Predisposition to Acute Myelogenous Leukemia 20 58
Familial Thrombocytopenia with Propensity to Acute Myelogenous Leukemia 20 58
Familial Platelet Disorder with Predisposition to Myeloid Malignancy 20 58
Familial Platelet Disorder with Propensity to Acute Myeloid Leukemia 20 58
Fps/aml 20 58
Hereditary Thrombocytopenia with Normal Platelets-Hematological Cancer Predisposition Syndrome 20
Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia; Fpd/aml 57
Familial Platelet Syndrome with Predisposition to Acute Myelogenous Leukemia 20
Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia 57
Platelet Disorder, Aspirin-Like 57
Asprin-Like Platelet Disorder 20
Fpd/aml Syndrome 20
Fps/aml Syndrome 20
Runx1 Fpd/aml 20

Characteristics:

Orphanet epidemiological data:

58
familial platelet disorder with associated myeloid malignancy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

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


HPO:

31
platelet disorder, familial, with associated myeloid malignancy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Platelet Disorder, Familial, with Associated Myeloid Malignancy

UniProtKB/Swiss-Prot : 72 Familial platelet disorder with associated myeloid malignancy: Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia.

MalaCards based summary : Platelet Disorder, Familial, with Associated Myeloid Malignancy, also known as familial platelet disorder with associated myeloid malignancy, is related to thrombocytopenia and chronic myelomonocytic leukemia. An important gene associated with Platelet Disorder, Familial, with Associated Myeloid Malignancy is RUNX1 (RUNX Family Transcription Factor 1), and among its related pathways/superpathways is Transcriptional misregulation in cancer. Affiliated tissues include myeloid, bone marrow and bone, and related phenotypes are prolonged bleeding time and acute myeloid leukemia

More information from OMIM: 601399

Related Diseases for Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia 30.7 RUNX1 ETV6 ANKRD26
2 chronic myelomonocytic leukemia 29.9 RUNX1 ETV6
3 acute leukemia 29.8 RUNX1 ETV6
4 myeloid leukemia 29.7 RUNX1 ETV6
5 blood platelet disease 29.7 RUNX1 ANKRD26
6 t-cell acute lymphoblastic leukemia 29.6 RUNX1 ETV6
7 myelodysplastic syndrome 29.0 RUNX1 ETV6 ANKRD26
8 runx1 familial platelet disorder with associated myeloid malignancies 11.2
9 lymphoblastic lymphoma 10.3
10 purpura 10.2
11 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.9 RUNX1 ETV6
12 etv6 thrombocytopenia and predisposition to leukemia 9.9 RUNX1 ETV6
13 cebpa-associated familial acute myeloid leukemia 9.9 RUNX1 ETV6
14 leukemia, acute lymphoblastic 3 9.9 RUNX1 ETV6
15 atypical chronic myeloid leukemia 9.9 RUNX1 ETV6
16 childhood leukemia 9.9 RUNX1 ETV6
17 leukemia, acute myeloid 9.9
18 leukemia, acute lymphoblastic 9.9
19 leukemia 9.9
20 precursor t-cell acute lymphoblastic leukemia 9.9
21 acute megakaryocytic leukemia 9.9 RUNX1 ETV6
22 childhood acute lymphocytic leukemia 9.9 RUNX1 ETV6
23 juvenile myelomonocytic leukemia 9.9 RUNX1 ETV6
24 myeloproliferative neoplasm 9.9 RUNX1 ETV6
25 hemorrhagic disease 9.8 RUNX1 ETV6
26 myelofibrosis 9.8 RUNX1 ETV6
27 down syndrome 9.7 RUNX1 ETV6
28 hematologic cancer 9.7 RUNX1 ETV6
29 leukemia, chronic myeloid 9.6 RUNX1 ETV6

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



Diseases related to Platelet Disorder, Familial, with Associated Myeloid Malignancy

Symptoms & Phenotypes for Platelet Disorder, Familial, with Associated Myeloid Malignancy

Human phenotypes related to Platelet Disorder, Familial, with Associated Myeloid Malignancy:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 prolonged bleeding time 31 very rare (1%) HP:0003010
2 acute myeloid leukemia 31 very rare (1%) HP:0004808
3 impaired platelet aggregation 31 very rare (1%) HP:0003540
4 abnormal dense granule content 31 very rare (1%) HP:0012529
5 thrombocytopenia 31 HP:0001873
6 myelodysplasia 31 HP:0002863
7 lymphoma 31 HP:0002665
8 epistaxis 31 HP:0000421
9 bruising susceptibility 31 HP:0000978
10 neuroblastoma 31 HP:0003006
11 acute monocytic leukemia 31 HP:0004845
12 abnormal alpha granule content 31 HP:0012527

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
myelodysplasia
neuroblastoma
acute monocytic leukemia
lymphosarcoma
lymphocytic lymphoma
more
Hematology:
prolonged bleeding time
abnormal platelet aggregation
thrombocytopenia (birth)
normal platelet size
normal platelet morphology

Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruisability

Clinical features from OMIM®:

601399 (Updated 05-Apr-2021)

Drugs & Therapeutics for Platelet Disorder, Familial, with Associated Myeloid Malignancy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Studies of Patient With FPDMM Recruiting NCT03854318

Search NIH Clinical Center for Platelet Disorder, Familial, with Associated Myeloid Malignancy

Genetic Tests for Platelet Disorder, Familial, with Associated Myeloid Malignancy

Genetic tests related to Platelet Disorder, Familial, with Associated Myeloid Malignancy:

# Genetic test Affiliating Genes
1 Familial Platelet Disorder with Associated Myeloid Malignancy 29 RUNX1

Anatomical Context for Platelet Disorder, Familial, with Associated Myeloid Malignancy

MalaCards organs/tissues related to Platelet Disorder, Familial, with Associated Myeloid Malignancy:

40
Myeloid, Bone Marrow, Bone

Publications for Platelet Disorder, Familial, with Associated Myeloid Malignancy

Articles related to Platelet Disorder, Familial, with Associated Myeloid Malignancy:

(show all 48)
# Title Authors PMID Year
1
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. 57 6
19357396 2009
2
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. 6 57
18478040 2008
3
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. 6 57
11830488 2002
4
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 6 57
10508512 1999
5
Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype. 6 61
24353905 2012
6
A novel germline RUNX1 mutation with co-occurrence of somatic alterations in a case of myeloid neoplasm with familial thrombocytopenia: first report from India. 6
30990344 2019
7
Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia. 6
29666006 2018
8
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. 6
28960434 2018
9
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia. 6
28748566 2017
10
Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree. 6
28513614 2017
11
Mutations of RUNX1 in families with inherited thrombocytopenia. 6
28240786 2017
12
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 6
27418648 2016
13
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. 6
27479822 2016
14
Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan. 6
26884589 2016
15
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders. 6
27112265 2016
16
Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia. 6
26316320 2016
17
Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets. 6
26175287 2015
18
Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes. 6
25840971 2015
19
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. 6
24100448 2013
20
RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes. 6
23817177 2013
21
RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins. 6
23848403 2013
22
In rare acute myeloid leukemia patients harboring both RUNX1 and NPM1 mutations, RUNX1 mutations are unusual in structure and present in the germline. 6
23753029 2013
23
A ZMYM2-FGFR1 8p11 myeloproliferative neoplasm with a novel nonsense RUNX1 mutation and tumor lysis upon imatinib treatment. 6
23751892 2013
24
RUNX1 mutations in cytogenetically normal acute myeloid leukemia are associated with a poor prognosis and up-regulation of lymphoid genes. 6
22689681 2012
25
Functional features of RUNX1 mutants in acute transformation of chronic myeloid leukemia and their contribution to inducing murine full-blown leukemia. 6
22318203 2012
26
Identification and molecular characterization of a novel 3&#x2032; mutation in RUNX1 in a family with familial platelet disorder. 6
20846103 2010
27
T cell acute lymphoblastic leukemia arising from familial platelet disorder. 6
20549580 2010
28
A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation? 6
19387465 2009
29
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 6
18723428 2008
30
Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-M0 patients. 6
17650443 2007
31
Trisomy 13 is strongly associated with AML1/RUNX1 mutations and increased FLT3 expression in acute myeloid leukemia. 6
17485549 2007
32
Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 6
17290219 2007
33
Functional domains of Runx1 are differentially required for CD4 repression, TCRbeta expression, and CD4/8 double-negative to CD4/8 double-positive transition in thymocyte development. 6
15749889 2005
34
Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies. 57
15138996 2004
35
VWRPY motif-dependent and -independent roles of AML1/Runx1 transcription factor in murine hematopoietic development. 6
14504086 2004
36
A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia. 6
12060124 2002
37
Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) 57
9746808 1998
38
Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2. 57
8652836 1996
39
Studies of a familial platelet disorder. 57
3855665 1985
40
RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies 61
33661592 2021
41
A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder. 61
33616470 2021
42
RUNX1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells. 61
33569577 2021
43
High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML. 61
32315381 2020
44
The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy - A case series and review of the literature. 61
31989091 2020
45
GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant. 61
31698193 2019
46
Longitudinal sequencing of RUNX1 familial platelet disorder: new insights into genetic mechanisms of transformation to myeloid malignancies. 61
31124578 2019
47
Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy. 61
30600763 2019
48
RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM). 61
28637620 2017

Variations for Platelet Disorder, Familial, with Associated Myeloid Malignancy

ClinVar genetic disease variations for Platelet Disorder, Familial, with Associated Myeloid Malignancy:

6 (show top 50) (show all 590)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RUNX1 NM_001754.4(RUNX1):c.352-1G>T SNV Pathogenic 14463 rs587776809 GRCh37: 21:36253011-36253011
GRCh38: 21:34880714-34880714
2 RUNX1 NM_001754.4(RUNX1):c.602G>A (p.Arg201Gln) SNV Pathogenic 14464 rs74315450 GRCh37: 21:36231782-36231782
GRCh38: 21:34859485-34859485
3 RUNX1 NM_001754.4(RUNX1):c.328A>G (p.Lys110Glu) SNV Pathogenic 14465 rs121912498 GRCh37: 21:36259163-36259163
GRCh38: 21:34886866-34886866
4 RUNX1 NM_001754.4(RUNX1):c.508+3del Deletion Pathogenic 14466 rs587776810 GRCh37: 21:36252851-36252851
GRCh38: 21:34880554-34880554
5 RUNX1 NM_001754.4(RUNX1):c.400G>C (p.Ala134Pro) SNV Pathogenic 14468 rs74315451 GRCh37: 21:36252962-36252962
GRCh38: 21:34880665-34880665
6 RUNX1 NM_001754.4(RUNX1):c.442_449del (p.Thr148fs) Deletion Pathogenic 14470 rs587776811 GRCh37: 21:36252913-36252920
GRCh38: 21:34880616-34880623
7 RUNX1 and overlap with 3 gene(s) NC_000021.9:g.(?_34787801)_(35048958_?)del Deletion Pathogenic 417476 GRCh37: 21:36160098-36421255
GRCh38: 21:34787801-35048958
8 RUNX1 NM_001754.4(RUNX1):c.497G>A (p.Arg166Gln) SNV Pathogenic 417961 rs1060499616 GRCh37: 21:36252865-36252865
GRCh38: 21:34880568-34880568
9 RUNX1 NM_001754.4(RUNX1):c.352-1G>A SNV Pathogenic 436616 rs587776809 GRCh37: 21:36253011-36253011
GRCh38: 21:34880714-34880714
10 RUNX1 NC_000021.9:g.(?_35048836)_(35048905_?)del Deletion Pathogenic 463975 GRCh37: 21:36421133-36421202
GRCh38: 21:35048836-35048905
11 RUNX1 NM_001754.4(RUNX1):c.215_216dup (p.Ser73fs) Duplication Pathogenic 463988 rs1555899813 GRCh37: 21:36259274-36259275
GRCh38: 21:34886977-34886978
12 RUNX1 NM_001754.4(RUNX1):c.1408_1409GC[4] (p.Leu472fs) Microsatellite Pathogenic 532664 rs1555884790 GRCh37: 21:36164461-36164462
GRCh38: 21:34792164-34792165
13 RUNX1 NM_001001890.3(RUNX1):c.598G>T (p.Glu200Ter) SNV Pathogenic 545522 rs1555889984 GRCh37: 21:36206833-36206833
GRCh38: 21:34834536-34834536
14 RUNX1 NM_001754.4(RUNX1):c.166_193dup (p.Ala65fs) Duplication Pathogenic 571388 rs1569084530 GRCh37: 21:36259297-36259298
GRCh38: 21:34887000-34887001
15 RUNX1 NM_001754.4(RUNX1):c.289_299delinsCTCCTTCCGCTG (p.Phe97fs) Indel Pathogenic 647118 rs1601528701 GRCh37: 21:36259192-36259202
GRCh38: 21:34886895-34886905
16 RUNX1 NC_000021.9:g.(?_35048832)_(35049298_?)del Deletion Pathogenic 650703 GRCh37: 21:36421129-36421595
GRCh38: 21:35048832-35049298
17 RUNX1 NM_001754.4(RUNX1):c.601C>T (p.Arg201Ter) SNV Pathogenic 376018 rs1057519748 GRCh37: 21:36231783-36231783
GRCh38: 21:34859486-34859486
18 RUNX1 NC_000021.9:g.(?_34799291)_(35049298_?)del Deletion Pathogenic 832666 GRCh37: 21:36171588-36421595
GRCh38:
19 RUNX1 NC_000021.9:g.(?_34880547)_(34880723_?)del Deletion Pathogenic 833071 GRCh37: 21:36252844-36253020
GRCh38:
20 RUNX1 NM_001754.5(RUNX1):c.45dup (p.Cys16fs) Duplication Pathogenic 840868 GRCh37: 21:36421151-36421152
GRCh38: 21:35048854-35048855
21 RUNX1 NC_000021.9:g.(?_34792125)_(34892973_?)del Deletion Pathogenic 832471 GRCh37: 21:36164422-36265270
GRCh38:
22 RUNX1 NM_001754.5(RUNX1):c.334del (p.Leu112fs) Deletion Pathogenic 869209 GRCh37: 21:36259157-36259157
GRCh38: 21:34886860-34886860
23 RUNX1 NM_001754.4(RUNX1):c.958C>T (p.Arg320Ter) SNV Pathogenic 618862 rs1569008655 GRCh37: 21:36171607-36171607
GRCh38: 21:34799310-34799310
24 RUNX1 NM_001754.5(RUNX1):c.967+2_967+5del Deletion Pathogenic 945290 GRCh37: 21:36171593-36171596
GRCh38: 21:34799296-34799299
25 RUNX1 NM_001754.5(RUNX1):c.166_196del (p.Leu56fs) Deletion Pathogenic 978818 GRCh37: 21:36259295-36259325
GRCh38: 21:34886998-34887028
26 RUNX1 NM_001754.4(RUNX1):c.861C>A (p.Tyr287Ter) SNV Pathogenic 14467 rs121912499 GRCh37: 21:36171704-36171704
GRCh38: 21:34799407-34799407
27 RUNX1 NM_001754.4(RUNX1):c.610C>T (p.Arg204Ter) SNV Pathogenic 561252 rs1569061768 GRCh37: 21:36231774-36231774
GRCh38: 21:34859477-34859477
28 RUNX1 NM_001754.4(RUNX1):c.611G>A (p.Arg204Gln) SNV Pathogenic 561253 rs1569061762 GRCh37: 21:36231773-36231773
GRCh38: 21:34859476-34859476
29 RUNX1 NM_001754.5(RUNX1):c.596G>A (p.Gly199Glu) SNV Likely pathogenic 869210 GRCh37: 21:36231788-36231788
GRCh38: 21:34859491-34859491
30 RUNX1 NM_001754.5(RUNX1):c.351+2T>A SNV Likely pathogenic 943551 GRCh37: 21:36259138-36259138
GRCh38: 21:34886841-34886841
31 RUNX1 NM_001754.5(RUNX1):c.844_856del (p.Asp282fs) Deletion Likely pathogenic 934175 GRCh37: 21:36171709-36171721
GRCh38: 21:34799412-34799424
32 RUNX1 NM_001754.5(RUNX1):c.506G>T (p.Arg169Ile) SNV Likely pathogenic 869207 GRCh37: 21:36252856-36252856
GRCh38: 21:34880559-34880559
33 RUNX1 NM_001754.4(RUNX1):c.593A>T (p.Asp198Val) SNV Likely pathogenic 627342 rs1569061786 GRCh37: 21:36231791-36231791
GRCh38: 21:34859494-34859494
34 RUNX1 NM_001754.5(RUNX1):c.968-10C>A SNV Likely pathogenic 869208 GRCh37: 21:36164917-36164917
GRCh38: 21:34792620-34792620
35 RUNX1 NM_001754.4(RUNX1):c.1163C>A (p.Ser388Ter) SNV Likely pathogenic 561222 rs1569002296 GRCh37: 21:36164712-36164712
GRCh38: 21:34792415-34792415
36 RUNX1 NM_001754.4(RUNX1):c.316T>A (p.Trp106Arg) SNV Likely pathogenic 436617 rs1555899735 GRCh37: 21:36259175-36259175
GRCh38: 21:34886878-34886878
37 RUNX1 NM_001754.4(RUNX1):c.314A>C (p.His105Pro) SNV Likely pathogenic 561233 rs1569084116 GRCh37: 21:36259177-36259177
GRCh38: 21:34886880-34886880
38 RUNX1 NM_001754.4(RUNX1):c.508+2T>C SNV Likely pathogenic 642956 rs1601515707 GRCh37: 21:36252852-36252852
GRCh38: 21:34880555-34880555
39 RUNX1 NM_001754.4(RUNX1):c.351+1G>C SNV Likely pathogenic 409822 rs1060502579 GRCh37: 21:36259139-36259139
GRCh38: 21:34886842-34886842
40 RUNX1 NC_000021.9:g.(?_34787801)_(34799462_?)del Deletion Likely pathogenic 417477 GRCh37: 21:36160098-36171759
GRCh38: 21:34787801-34799462
41 RUNX1 NM_001754.4(RUNX1):c.467C>A (p.Ala156Glu) SNV Likely pathogenic 14471 rs267607026 GRCh37: 21:36252895-36252895
GRCh38: 21:34880598-34880598
42 RUNX1 NM_001754.4(RUNX1):c.509-?_613+?del Deletion Likely pathogenic 254081 GRCh37: 21:36231771-36231875
GRCh38: 21:34859474-34859578
43 RUNX1 NM_001754.4(RUNX1):c.*4188G>C SNV Conflicting interpretations of pathogenicity 339794 rs761390141 GRCh37: 21:36160244-36160244
GRCh38: 21:34787947-34787947
44 RUNX1 NM_001754.4(RUNX1):c.981G>C (p.Leu327=) SNV Conflicting interpretations of pathogenicity 707307 rs376269814 GRCh37: 21:36164894-36164894
GRCh38: 21:34792597-34792597
45 RUNX1 NM_001754.4(RUNX1):c.1396A>T (p.Met466Leu) SNV Conflicting interpretations of pathogenicity 463982 rs762213305 GRCh37: 21:36164479-36164479
GRCh38: 21:34792182-34792182
46 RUNX1 NC_000021.9:g.(?_34738904)_(35049298_?)dup Duplication Uncertain significance 832314 GRCh37: 21:36111201-36421595
GRCh38:
47 RUNX1 NM_001754.4(RUNX1):c.532A>C (p.Thr178Pro) SNV Uncertain significance 561246 rs1569061931 GRCh37: 21:36231852-36231852
GRCh38: 21:34859555-34859555
48 RUNX1 NM_001754.4(RUNX1):c.502G>A (p.Gly168Arg) SNV Uncertain significance 561243 rs1569078784 GRCh37: 21:36252860-36252860
GRCh38: 21:34880563-34880563
49 RUNX1 NC_000021.9:g.(?_34834400)_(34892973_?)dup Duplication Uncertain significance 833418 GRCh37: 21:36206697-36265270
GRCh38:
50 RUNX1 NM_001754.5(RUNX1):c.510G>T (p.Gly170=) SNV Uncertain significance 835308 GRCh37: 21:36231874-36231874
GRCh38: 21:34859577-34859577

UniProtKB/Swiss-Prot genetic disease variations for Platelet Disorder, Familial, with Associated Myeloid Malignancy:

72
# Symbol AA change Variation ID SNP ID
1 RUNX1 p.Arg139Gln VAR_012128 rs106049961
2 RUNX1 p.Arg174Gln VAR_012129 rs74315450

Expression for Platelet Disorder, Familial, with Associated Myeloid Malignancy

Search GEO for disease gene expression data for Platelet Disorder, Familial, with Associated Myeloid Malignancy.

Pathways for Platelet Disorder, Familial, with Associated Myeloid Malignancy

Pathways related to Platelet Disorder, Familial, with Associated Myeloid Malignancy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.91 RUNX1 ETV6

GO Terms for Platelet Disorder, Familial, with Associated Myeloid Malignancy

Biological processes related to Platelet Disorder, Familial, with Associated Myeloid Malignancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hematopoietic stem cell proliferation GO:0071425 8.62 RUNX1 ETV6

Molecular functions related to Platelet Disorder, Familial, with Associated Myeloid Malignancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.62 RUNX1 ETV6

Sources for Platelet Disorder, Familial, with Associated Myeloid Malignancy

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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