MECOM gene related symptoms and diseases

All the information presented here about the MECOM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MECOM gene

Symptoms // Phenotype % Cases
Anemia Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Petechiae Uncommon - Between 30% and 50% cases
Limited pronation/supination of forearm Uncommon - Between 30% and 50% cases
Radioulnar synostosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MECOM gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Amegakaryocytic thrombocytopenia
  • Pancytopenia
  • Clinodactyly
  • Congenital thrombocytopenia
  • Sensorineural hearing impairment
  • Rarely - Less than 30% cases

  • Cutaneous finger syndactyly
  • Ecchymosis
  • Hip dislocation

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MECOM gene

Here you will find a list of rare diseases related to the MECOM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MYELODYSPLASTIC SYNDROME; MDS


Alternate names

MYELODYSPLASTIC SYNDROME; MDS Is also known as myelodysplastic syndrome, susceptibility to, included

Description

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML ). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011).

Most common symptoms of MYELODYSPLASTIC SYNDROME; MDS

  • Anemia
  • Leukemia
  • Myelodysplasia
  • Myeloid leukemia
  • Acute myeloid leukemia


More info about MYELODYSPLASTIC SYNDROME; MDS

SOURCES: OMIM ORPHANET

ACUTE MYELOID LEUKEMIA WITH INV3(Q21;Q26.2) OR T(3;3)(Q21;Q26.2)


Alternate names

ACUTE MYELOID LEUKEMIA WITH INV3(Q21;Q26.2) OR T(3;3)(Q21;Q26.2) Is also known as aml with inv3(q21;q26.2) or t(3;3)(q21;q26.2)

Description

Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.


More info about ACUTE MYELOID LEUKEMIA WITH INV3(Q21;Q26.2) OR T(3;3)(Q21;Q26.2)

SOURCES: ORPHANET

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 ).

Most common symptoms of RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Thrombocytopenia
  • Clinodactyly


More info about RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2

SOURCES: OMIM

RADIO-ULNAR SYNOSTOSIS-AMEGAKARYOCYTIC THROMBOCYTOPENIA SYNDROME


Alternate names

RADIO-ULNAR SYNOSTOSIS-AMEGAKARYOCYTIC THROMBOCYTOPENIA SYNDROME Is also known as ctrus, atrus syndrome, thrombocytopenia, congenital, with radioulnar synostosis, rusat

Description

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).

Most common symptoms of RADIO-ULNAR SYNOSTOSIS-AMEGAKARYOCYTIC THROMBOCYTOPENIA SYNDROME

  • Sensorineural hearing impairment
  • Syndactyly
  • Thrombocytopenia
  • Clinodactyly
  • Clinodactyly of the 5th finger


More info about RADIO-ULNAR SYNOSTOSIS-AMEGAKARYOCYTIC THROMBOCYTOPENIA SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for MECOM gene

Detection by FISH of RPN1/MECOM (inv/t(3)) Panel

Portugal.

By CGC Genetics Detection by FISH of RPN1/MECOM (inv/t(3)) that also includes the following genes: RPN1 MECOM

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Thrombocytopenia Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Deletion / Duplication Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Thrombocytopenia Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Comprehensive Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Fluorescent in situ Hybridization - Hematopathology Panel

United States.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA Fluorescent in situ Hybridization - Hematopathology that also includes the following genes: BCL6 BCR RUNX1 ABI1 TCF3 TP53 DLEU1 CRLF2 RUNX1T1 CBFB

More info about this panel

FISH, MDS Panel Panel

United States.

By Cytogenetics and Molecular Pathology Laboratory UP Health System Marquette FISH, MDS Panel that also includes the following genes: EGR1 MECOM MYBL2 PTPRT

More info about this panel

MECOM Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MECOM gene.

More info about this panel

Onco microarray for MDS/AML Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1

More info about this panel

Thrombocytopenia Panel Panel

Finland.

By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1

More info about this panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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