MESP2 gene related symptoms and diseases
All the information presented here about the MESP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MESP2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Vertebral segmentation defect | Common - Between 50% and 80% cases |
| Rib fusion | Common - Between 50% and 80% cases |
| Short neck | Common - Between 50% and 80% cases |
| Respiratory failure | Common - Between 50% and 80% cases |
| Respiratory tract infection | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with MESP2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Congestive heart failure
- Recurrent respiratory infections
- Disproportionate short-trunk short stature
Not very common - Between 30% and 50% cases
- Kyphosis
- Long philtrum
- Abnormality of cardiovascular system morphology
- Sensorineural hearing impairment
- Hernia
And 118 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MESP2 gene
Here you will find a list of rare diseases related to the MESP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
KAWASAKI DISEASE
Alternate names
KAWASAKI DISEASE Is also known as kd, infantile polyarteritis, mucocutaneous lymph node syndrome
Description
Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.
Most common symptoms of KAWASAKI DISEASE
- Sensorineural hearing impairment
- Ptosis
- Fever
- Fatigue
- Edema
More info about KAWASAKI DISEASE
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS
Alternate names
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies, jarcho-levin syndrome, spondylothoracic dysplasia, spondylothoracic dysostosis, costovertebral dysplasia
Description
Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
Most common symptoms of AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS
- Intellectual disability
- Short stature
- Microcephaly
- Scoliosis
- Cleft palate
More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2
Description
Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 (OMIM ).
Most common symptoms of SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2
- Short neck
- Pneumonia
- Recurrent respiratory infections
- Respiratory failure
- Vertebral segmentation defect
More info about SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2
SOURCES: OMIM
Search interest in MESP2
Potential gene panels for MESP2 gene
MESP2 - Jarcho-Levin Panel
Switzerland.
By Centre of Molecular Diseases (CMM) CHUV
This panel specifically test the MESP2 gene.
More info about this panel Switzerland.
MESP2 - Spondylocostal dysostosis 2 Panel
Switzerland.
By Centre of Molecular Diseases (CMM) CHUV
This panel specifically test the MESP2 gene.
More info about this panel Switzerland.
MESP2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MESP2 gene.
More info about this panel Spain.
HES7, MESP2, LFNG, DLL3. NextGeneDx. Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica HES7, MESP2, LFNG, DLL3. NextGeneDx. Complete sequencing by NGS that also includes the following genes: HES7 DLL3 MESP2 LFNG
More info about this panel Spain.
Spondylocostal dysostosis type 2 AR (sequence analysis of MESP2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MESP2 gene.
More info about this panel Portugal.
Spondylocostal dysostosis (NGS panel of 6 genes) Panel
Portugal.
By CGC Genetics Spondylocostal dysostosis (NGS panel of 6 genes) that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel Portugal.
Spondylocostal dysostosis (NGS panel of 6 genes) Panel
Portugal.
By CGC Genetics Spondylocostal dysostosis (NGS panel of 6 genes) that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel Portugal.
MESP2-Related Spondylocostal Dysostosis, Autosomal Recessive Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the MESP2 gene.
More info about this panel United Kingdom.
Spondylocostal Dysostosis and Spondylothoracic Dysostosis via MESP2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the MESP2 gene.
More info about this panel United States.
Spondylocostal Dysostosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Spondylocostal Dysostosis Sequencing Panel with CNV Detection that also includes the following genes: TBX6 HES7 DLL3 MESP2 LFNG
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Spondylocostal dysostosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Spondylocostal dysostosis Deletion / Duplication panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel United States.
Spondylocostal dysostosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Spondylocostal dysostosis Comprehensive panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel United States.
Spondylocostal dysostosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Spondylocostal dysostosis NGS panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel United States.
Spondylocostal dysostosis, autosomal recessive type II Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MESP2 gene.
More info about this panel Germany.
Congenital disorder of O-linked glycosylation (CDG) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of O-linked glycosylation (CDG) that also includes the following genes: XYLT1 B4GAT1 HES7 CHSY1 B3GALT6 FKRP POMGNT1 CHST3 POMT2 B3GLCT
More info about this panel Spain.
Spondylocostal dysostosis, autosomal recessive Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spondylocostal dysostosis, autosomal recessive that also includes the following genes: HES7 DLL3 MESP2 LFNG
More info about this panel Spain.
Disproportionate Short Stature: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panel United States.
Spondylocostal Dysostosis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Spondylocostal Dysostosis NGS Panel that also includes the following genes: DLL3 MESP2 LFNG
More info about this panel United States.
MESP2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MESP2 gene.
More info about this panel United States.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Autosomal recessive spondylocostal dysostosis type 2 Panel
Spain.
By Bioarray
This panel specifically test the MESP2 gene.
More info about this panel Spain.
Autosomal recessive spondylocostal dysostosis type 2 Panel
Spain.
By Bioarray
This panel specifically test the MESP2 gene.
More info about this panel Spain.
SPONDYLOCOSTAL DYSOSTOSIS (SYNDROME DE JARCHO-LEVIN) Panel
Spain.
By Laboratorio de Genetica Clinica SL SPONDYLOCOSTAL DYSOSTOSIS (SYNDROME DE JARCHO-LEVIN) that also includes the following genes: HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel Spain.
SPONDYLOCOSTAL DYSOSTOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPONDYLOCOSTAL DYSOSTOSIS NGS PANEL that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel Spain.
Autosomal Recessive Spondylocostal Dysostosis Type 2 , Sequencing MESP2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MESP2 gene.
More info about this panel Spain.
Spondylocostal Dysostosis , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Spondylocostal Dysostosis , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TBX6 HES7 DLL3 MESP2 LFNG
More info about this panel Spain.
Spondylocostal Dysostosis, Autosomal Recessive: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Spondylocostal Dysostosis, Autosomal Recessive: gene sequencing panel that also includes the following genes: HES7 DLL3 MESP2 LFNG
More info about this panel Canada.
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