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.

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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

SOURCES: OMIM ORPHANET

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


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

HES7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HES7 gene.

More info about this panel

Autosomal recessive spondylocostal dysostosis type 4 Panel

Spain.

By Bioarray

This panel specifically test the HES7 gene.

More info about this panel

Autosomal recessive spondylocostal dysostosis type 4 Panel

Spain.

By Bioarray

This panel specifically test the HES7 gene.

More info about this panel

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

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

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

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

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


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