Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2; Rusat2

Description

Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015).For a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2; Rusat2

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Thrombocytopenia
  • Clinodactyly
  • Hepatosplenomegaly
  • Lymphadenopathy
  • Neutropenia
  • Pancytopenia
  • Cafe-au-lait spot

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

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Incidence and onset information

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

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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Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2; Rusat2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Detection by FISH of RPN1/MECOM (inv/t(3)).

By CGC Genetics (Portugal).

RPN1, MECOM
Specificity
50 %
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 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA (United States).

BCL6, BCR, RUNX1, ABI1, TCF3, TP53, DLEU1, CRLF2, RUNX1T1, CBFB, CDKN2A, CDKN2C, CKS1B, ETV6, MECOM, FGFR1, IGH, JAK2, MYC, ABL1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
FISH, MDS Panel.

By Cytogenetics and Molecular Pathology Laboratory UP Health System Marquette (United States).

EGR1, MECOM, MYBL2, PTPRT
Specificity
25 %
Genes
100 %
MECOM.

By Fulgent Genetics Fulgent Genetics (United States).

MECOM
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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