Platelet Disorder, Familial, With Associated Myeloid Malignancy; Fpdmm

Clinical Features

Top most frequent phenotypes and symptoms related to Platelet Disorder, Familial, With Associated Myeloid Malignancy; Fpdmm

  • Anemia
  • Thrombocytopenia
  • Hernia
  • Hypospadias
  • Umbilical hernia
  • Leukemia
  • Bruising susceptibility
  • Neutropenia
  • Abnormal bleeding
  • Lymphoma

And another 11 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Platelet Disorder, Familial, With Associated Myeloid Malignancy; Fpdmm Is also known as platelet disorder, aspirin-like, thrombocytopenia, familial, with propensity to acute myelogenous leukemia, fpd/aml.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Platelet Disorder, Familial, With Associated Myeloid Malignancy; Fpdmm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RUNX1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1
Specificity
100 %
Genes
100 %
RUNX1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

RUNX1
Specificity
100 %
Genes
100 %
Hereditary Leukemia/Lymphoma Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, BRCA2, TP53, CBL, CEBPA, SBDS, BRIP1, PALB2, GATA2, ATM, PAX5, PRF1, PTPN11
Specificity
8 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %

We have 89 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTHEMIA 3; THCYT3 SENIOR-LOKEN SYNDROME 5; SLSN5 SYNDACTYLY, TYPE IV; SDTY4 HEMOGLOBIN, HIGH ALTITUDE ADAPTATION; HALAH GALLBLADDER DISEASE 1; GBD1 IMMUNODEFICIENCY 46; IMD46 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more