HES7 gene related symptoms and diseases
All the information presented here about the HES7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HES7 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hemivertebrae | Very Common - Between 80% and 100% cases |
| Short stature | Very Common - Between 80% and 100% cases |
| Rib fusion | Common - Between 50% and 80% cases |
| Severe short stature | Common - Between 50% and 80% cases |
| Abnormality of the ribs | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with HES7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormal vertebral morphology
- Short neck
- Disproportionate short-trunk short stature
- Abnormality of the odontoid process
- Block vertebrae
- Scoliosis
- Missing ribs
- Spina bifida occulta
And 66 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HES7 gene
Here you will find a list of rare diseases related to the HES7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4
Most common symptoms of SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4
- Short stature
- Hydrocephalus
- Pectus excavatum
- Talipes
- Situs inversus totalis
More info about SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4
SOURCES: OMIM
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 5; SCDO5
Alternate names
SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5 Is also known as costovertebral segmentation anomalies, scoliosis, congenital, with or without rib anomalies, spondylocostal dysplasia, spondylothoracic dysostosis
Most common symptoms of SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5
- Short stature
- Scoliosis
- Short neck
- Severe short stature
- Pectus carinatum
More info about SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5
SOURCES: OMIM
Search interest in HES7
Potential gene panels for HES7 gene
HES7 - Spondylocostal dysostosis 4, autosomal recessive Panel
Switzerland.
By Centre of Molecular Diseases (CMM) CHUV
This panel specifically test the HES7 gene.
More info about this panel Switzerland.
HES7. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HES7 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 4, AR (sequence analysis of HES7 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HES7 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.
HES7-Related Spondylocostal Dysostosis, Autosomal Recessive Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the HES7 gene.
More info about this panel United Kingdom.
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.
Spondylocostal Dysostosis via HES7 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the HES7 gene.
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.
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.
HES7 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HES7 gene.
More info about this panel United States.
Autosomal recessive spondylocostal dysostosis type 4 Panel
Spain.
By Bioarray
This panel specifically test the HES7 gene.
More info about this panel Spain.
Autosomal recessive spondylocostal dysostosis type 4 Panel
Spain.
By Bioarray
This panel specifically test the HES7 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 4 , Sequencing HES7 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HES7 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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