Thrombocytopenia With Congenital Dyserythropoietic Anemia

Description

Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.

Clinical Features

Phenotypes and symptoms related to Thrombocytopenia With Congenital Dyserythropoietic Anemia

  • Cryptorchidism
  • Anisocytosis
  • Anemia of inadequate production
  • Poikilocytosis
  • Macrothrombocytopenia
  • Hypochromic anemia
  • Abnormal lactate dehydrogenase activity
  • Abnormal megakaryocyte morphology
  • Abnormality of multiple cell lineages in the bone marrow

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

Thrombocytopenia With Congenital Dyserythropoietic Anemia Is also known as congenital dyserythropoietic anemia with thombocytopenia, x-linked congenital dyserythropoietic anemia with thrombocytopenia, xdat.

Researches and researchers

Doctors, researchs, and experts related to Thrombocytopenia With Congenital Dyserythropoietic Anemia extracted from public data.

Thrombocytopenia With Congenital Dyserythropoietic Anemia Experts map



Current Researchs and researchers

  • GREIFSWALD — Pr Ute FELBOR

    Coordinator of expert centre - Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department

    • Institution/s:
      — Universitätsmedizin Greifswald
      — Institut für Humangenetik der Universitätsmedizin Greifswald
      — Institut für Humangenetik der Universitätsmedizin Greifswald
    • Research area/topic::

      Mutational spectra and clinical manifestation in patients with congenital haemophilia


  • GREIFSWALD — Dr Matthias RATH

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Institut für Humangenetik der Universitätsmedizin Greifswald
    • Research area/topic::

      Mutational spectra and clinical manifestation in patients with congenital haemophilia


  • GREIFSWALD — Dr Winnie SCHRÖDER

    Responsible for diagnostic tests - Investigator of research project - Contact person of registry

    • Institution/s:
      — Institut für Humangenetik der Universitätsmedizin Greifswald
    • Research area/topic::

      Mutational spectra and clinical manifestation in patients with congenital haemophilia



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Panel Name, Specifity and genes Tested/covered
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Bone Marrow Failure.

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Platelet Disorders.

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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 , (...)

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Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

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RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)

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Hemolytic Anemia Panel by next-generation sequencing (NGS).

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RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2 , (...)

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Specificity
3 %
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Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SEC23B, LPIN2, CDAN1, C15orf41, ALAS2, GATA1, KLF1, KIF23
Specificity
13 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

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