Thrombocytopenia 3; Thc3

Description

Thrombocytopenia-3 is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by Levin et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.

Clinical Features

Phenotypes and symptoms related to Thrombocytopenia 3; Thc3

  • Abnormality of the skeletal system
  • Thrombocytopenia
  • Hepatosplenomegaly
  • Skin rash
  • Abnormal bleeding
  • Epistaxis
  • Petechiae
  • Giant platelets
  • Decreased mean platelet volume

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Thrombocytopenia 3; Thc3 Is also known as thrombocytopenia, autosomal recessive, 3.

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.


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Thrombocytopenia 3; Thc3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Thrombocytopenia Sequencing Panel.

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

CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Deletion/Duplication Panel.

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

CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, WAS, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CD36, MASTL, CYCS, ANKRD26, NBEAL2, ETV6, MECOM, FLI1, FLNA, FYB1, GATA1, GFI1B, GP1BA , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Thrombocytopenia NGS Panel.

By Connective Tissue Gene Tests (United States).

RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Thrombocytopenia Deletion / Duplication Panel.

By Connective Tissue Gene Tests (United States).

RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Thrombocytopenia Comprehensive Panel.

By Connective Tissue Gene Tests (United States).

RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
FYB.

By Fulgent Genetics Fulgent Genetics (United States).

FYB1
Specificity
100 %
Genes
100 %
Thrombocytopenia Panel.

By Blueprint Genetics (Finland).

RUNX1, SRC, THBD, WAS, WIPF1, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, MASTL, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FLNA, FYB1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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