MCID: PLT019
MIFTS: 32

Platelet Disorder, Familial, with Associated Myeloid Malignancy

Categories: Genetic diseases, Rare diseases, Blood diseases, Cancer 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 40 73
Familial Platelet Disorder with Associated Myeloid Malignancy 53 59 75 29 6
Hereditary Thrombocytopenia with Normal Platelets-Hematological Cancer Predisposition Syndrome 53 59
Familial Platelet Syndrome with Predisposition to Acute Myelogenous Leukemia 53 59
Fpd/aml Syndrome 53 59
Fps/aml Syndrome 53 59
Fpdmm 57 75
Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia; Fpd/aml 57
Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia 57
Familial Thrombocytopenia with Propensity to Acute Myelogenous Leukemia 53
Platelet Disorder, Aspirin-Like 57
Asprin-Like Platelet Disorder 53
Runx1 Fpd/aml 53
Fpd/aml 57

Characteristics:

Orphanet epidemiological data:

59
hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
platelet disorder, familial, with associated myeloid malignancy:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Platelet Disorder, Familial, with Associated Myeloid Malignancy

UniProtKB/Swiss-Prot : 75 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 chronic myelomonocytic leukemia and myeloid leukemia. An important gene associated with Platelet Disorder, Familial, with Associated Myeloid Malignancy is RUNX1 (Runt Related Transcription Factor 1), and among its related pathways/superpathways is Transcriptional misregulation in cancer. Affiliated tissues include myeloid and monocytes, and related phenotypes are epistaxis and bruising susceptibility

Description from OMIM: 601399

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 bruising susceptibility 32 HP:0000978
3 thrombocytopenia 32 HP:0001873
4 lymphoma 32 HP:0002665
5 myelodysplasia 32 HP:0002863
6 neuroblastoma 32 HP:0003006
7 prolonged bleeding time 32 HP:0003010
8 impaired platelet aggregation 32 HP:0003540
9 acute myeloid leukemia 32 HP:0004808
10 acute monocytic leukemia 32 HP:0004845

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

Search Clinical Trials , 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:

41
Myeloid, Monocytes

Publications for Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

# Title Authors Year
1
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. ( 19946261 )
2010

Variations for Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

75
# Symbol AA change Variation ID SNP ID
1 RUNX1 p.Arg139Gln VAR_012128
2 RUNX1 p.Arg174Gln VAR_012129 rs74315450

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

6
(show top 50) (show all 484)
# Gene Variation Type Significance SNP ID Assembly Location
1 RUNX1 NM_001754.4(RUNX1): c.352-1G> T single nucleotide variant Pathogenic rs587776809 GRCh37 Chromosome 21, 36253011: 36253011
2 RUNX1 NM_001754.4(RUNX1): c.352-1G> T single nucleotide variant Pathogenic rs587776809 GRCh38 Chromosome 21, 34880714: 34880714
3 RUNX1 NM_001754.4(RUNX1): c.602G> A (p.Arg201Gln) single nucleotide variant Pathogenic rs74315450 GRCh37 Chromosome 21, 36231782: 36231782
4 RUNX1 NM_001754.4(RUNX1): c.602G> A (p.Arg201Gln) single nucleotide variant Pathogenic rs74315450 GRCh38 Chromosome 21, 34859485: 34859485
5 RUNX1 NM_001754.4(RUNX1): c.328A> G (p.Lys110Glu) single nucleotide variant Pathogenic rs121912498 GRCh37 Chromosome 21, 36259163: 36259163
6 RUNX1 NM_001754.4(RUNX1): c.328A> G (p.Lys110Glu) single nucleotide variant Pathogenic rs121912498 GRCh38 Chromosome 21, 34886866: 34886866
7 RUNX1 NM_001754.4(RUNX1): c.508+3delA deletion Pathogenic rs587776810 GRCh37 Chromosome 21, 36252851: 36252851
8 RUNX1 NM_001754.4(RUNX1): c.508+3delA deletion Pathogenic rs587776810 GRCh38 Chromosome 21, 34880554: 34880554
9 RUNX1 NM_001754.4(RUNX1): c.861C> A (p.Tyr287Ter) single nucleotide variant Pathogenic rs121912499 GRCh37 Chromosome 21, 36171704: 36171704
10 RUNX1 NM_001754.4(RUNX1): c.861C> A (p.Tyr287Ter) single nucleotide variant Pathogenic rs121912499 GRCh38 Chromosome 21, 34799407: 34799407
11 RUNX1 NM_001754.4(RUNX1): c.400G> C (p.Ala134Pro) single nucleotide variant Pathogenic rs74315451 GRCh37 Chromosome 21, 36252962: 36252962
12 RUNX1 NM_001754.4(RUNX1): c.400G> C (p.Ala134Pro) single nucleotide variant Pathogenic rs74315451 GRCh38 Chromosome 21, 34880665: 34880665
13 RUNX1 NM_001754.4(RUNX1): c.442_449delACCGCAGC (p.Thr148Hisfs) deletion Pathogenic rs587776811 GRCh37 Chromosome 21, 36252913: 36252920
14 RUNX1 NM_001754.4(RUNX1): c.442_449delACCGCAGC (p.Thr148Hisfs) deletion Pathogenic rs587776811 GRCh38 Chromosome 21, 34880616: 34880623
15 RUNX1 NM_001754.4(RUNX1): c.467C> A (p.Ala156Glu) single nucleotide variant Pathogenic rs267607026 GRCh37 Chromosome 21, 36252895: 36252895
16 RUNX1 NM_001754.4(RUNX1): c.467C> A (p.Ala156Glu) single nucleotide variant Pathogenic rs267607026 GRCh38 Chromosome 21, 34880598: 34880598
17 RUNX1 NM_001754.4(RUNX1): c.557T> A (p.Val186Asp) single nucleotide variant Likely pathogenic rs797045927 GRCh37 Chromosome 21, 36231827: 36231827
18 RUNX1 NM_001754.4(RUNX1): c.557T> A (p.Val186Asp) single nucleotide variant Likely pathogenic rs797045927 GRCh38 Chromosome 21, 34859530: 34859530
19 RUNX1 NM_001754.4(RUNX1): c.183G> A (p.Pro61=) single nucleotide variant Benign/Likely benign rs76558016 GRCh37 Chromosome 21, 36259308: 36259308
20 RUNX1 NM_001754.4(RUNX1): c.183G> A (p.Pro61=) single nucleotide variant Benign/Likely benign rs76558016 GRCh38 Chromosome 21, 34887011: 34887011
21 RUNX1 NM_001754.4(RUNX1): c.1269C> T (p.Arg423=) single nucleotide variant Benign/Likely benign rs544247912 GRCh37 Chromosome 21, 36164606: 36164606
22 RUNX1 NM_001754.4(RUNX1): c.1269C> T (p.Arg423=) single nucleotide variant Benign/Likely benign rs544247912 GRCh38 Chromosome 21, 34792309: 34792309
23 RUNX1 NM_001754.4(RUNX1): c.1098_1103dupCGGCAT (p.Gly367_Met368insIleGly) duplication Uncertain significance rs750495319 GRCh38 Chromosome 21, 34792475: 34792480
24 RUNX1 NM_001754.4(RUNX1): c.1098_1103dupCGGCAT (p.Gly367_Met368insIleGly) duplication Uncertain significance rs750495319 GRCh37 Chromosome 21, 36164772: 36164777
25 RUNX1 NM_001754.4(RUNX1): c.1005G> T (p.Gln335His) single nucleotide variant Likely benign rs80314254 GRCh37 Chromosome 21, 36164870: 36164870
26 RUNX1 NM_001754.4(RUNX1): c.1005G> T (p.Gln335His) single nucleotide variant Likely benign rs80314254 GRCh38 Chromosome 21, 34792573: 34792573
27 RUNX1 NM_001754.4(RUNX1): c.938T> G (p.Leu313Arg) single nucleotide variant Uncertain significance rs766264813 GRCh37 Chromosome 21, 36171627: 36171627
28 RUNX1 NM_001754.4(RUNX1): c.938T> G (p.Leu313Arg) single nucleotide variant Uncertain significance rs766264813 GRCh38 Chromosome 21, 34799330: 34799330
29 RUNX1 NM_001754.4(RUNX1): c.927C> T (p.Gly309=) single nucleotide variant Benign/Likely benign rs59802347 GRCh37 Chromosome 21, 36171638: 36171638
30 RUNX1 NM_001754.4(RUNX1): c.927C> T (p.Gly309=) single nucleotide variant Benign/Likely benign rs59802347 GRCh38 Chromosome 21, 34799341: 34799341
31 RUNX1 NM_001754.4(RUNX1): c.832C> T (p.Pro278Ser) single nucleotide variant Uncertain significance rs767251526 GRCh38 Chromosome 21, 34799436: 34799436
32 RUNX1 NM_001754.4(RUNX1): c.832C> T (p.Pro278Ser) single nucleotide variant Uncertain significance rs767251526 GRCh37 Chromosome 21, 36171733: 36171733
33 RUNX1 NM_001754.4(RUNX1): c.749G> A (p.Arg250His) single nucleotide variant Uncertain significance rs771614642 GRCh38 Chromosome 21, 34834466: 34834466
34 RUNX1 NM_001754.4(RUNX1): c.749G> A (p.Arg250His) single nucleotide variant Uncertain significance rs771614642 GRCh37 Chromosome 21, 36206763: 36206763
35 RUNX1 NM_001754.4(RUNX1): c.737C> T (p.Thr246Met) single nucleotide variant Uncertain significance rs555366994 GRCh37 Chromosome 21, 36206775: 36206775
36 RUNX1 NM_001754.4(RUNX1): c.737C> T (p.Thr246Met) single nucleotide variant Uncertain significance rs555366994 GRCh38 Chromosome 21, 34834478: 34834478
37 RUNX1 NM_001754.4(RUNX1): c.667G> A (p.Glu223Lys) single nucleotide variant Uncertain significance rs878854468 GRCh37 Chromosome 21, 36206845: 36206845
38 RUNX1 NM_001754.4(RUNX1): c.667G> A (p.Glu223Lys) single nucleotide variant Uncertain significance rs878854468 GRCh38 Chromosome 21, 34834548: 34834548
39 RUNX1 NM_001754.4(RUNX1): c.654C> T (p.Ser218=) single nucleotide variant Benign/Likely benign rs145230602 GRCh37 Chromosome 21, 36206858: 36206858
40 RUNX1 NM_001754.4(RUNX1): c.654C> T (p.Ser218=) single nucleotide variant Benign/Likely benign rs145230602 GRCh38 Chromosome 21, 34834561: 34834561
41 RUNX1 NM_001754.4(RUNX1): c.648C> T (p.Pro216=) single nucleotide variant Likely benign rs199759556 GRCh38 Chromosome 21, 34834567: 34834567
42 RUNX1 NM_001754.4(RUNX1): c.648C> T (p.Pro216=) single nucleotide variant Likely benign rs199759556 GRCh37 Chromosome 21, 36206864: 36206864
43 RUNX1 NM_001754.4(RUNX1): c.641C> T (p.Thr214Ile) single nucleotide variant Uncertain significance rs747505757 GRCh38 Chromosome 21, 34834574: 34834574
44 RUNX1 NM_001754.4(RUNX1): c.641C> T (p.Thr214Ile) single nucleotide variant Uncertain significance rs747505757 GRCh37 Chromosome 21, 36206871: 36206871
45 RUNX1 NM_001754.4(RUNX1): c.492C> T (p.Val164=) single nucleotide variant Likely benign rs200907577 GRCh37 Chromosome 21, 36252870: 36252870
46 RUNX1 NM_001754.4(RUNX1): c.492C> T (p.Val164=) single nucleotide variant Likely benign rs200907577 GRCh38 Chromosome 21, 34880573: 34880573
47 RUNX1 NM_001754.4(RUNX1): c.303G> T (p.Val101=) single nucleotide variant Benign/Likely benign rs142472642 GRCh37 Chromosome 21, 36259188: 36259188
48 RUNX1 NM_001754.4(RUNX1): c.303G> T (p.Val101=) single nucleotide variant Benign/Likely benign rs142472642 GRCh38 Chromosome 21, 34886891: 34886891
49 RUNX1 NM_001754.4(RUNX1): c.232A> T (p.Met78Leu) single nucleotide variant Uncertain significance rs878854467 GRCh38 Chromosome 21, 34886962: 34886962
50 RUNX1 NM_001754.4(RUNX1): c.232A> T (p.Met78Leu) single nucleotide variant Uncertain significance rs878854467 GRCh37 Chromosome 21, 36259259: 36259259

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 10.89 ETV6 RUNX1

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 ETV6 RUNX1

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 ETV6 RUNX1

Sources for Platelet Disorder, Familial, with Associated Myeloid Malignancy

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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