DLL3 gene related symptoms and diseases

All the information presented here about the DLL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DLL3 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Vertebral segmentation defect Very Common - Between 80% and 100% cases
Congenital diaphragmatic hernia Very Common - Between 80% and 100% cases
Abnormality of the ribs Very Common - Between 80% and 100% cases
Abnormal form of the vertebral bodies Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DLL3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal vertebral morphology
  • Spina bifida
  • Hemivertebrae
  • Scapular winging
  • Spina bifida occulta
  • Abnormality of the urinary system
  • Preaxial polydactyly
  • Short thorax

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to DLL3 gene

Here you will find a list of rare diseases related to the DLL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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


Potential gene panels for DLL3 gene

DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive Panel

Switzerland.

By Centre of Molecular Diseases (CMM) CHUV

This panel specifically test the DLL3 gene.

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

DLL3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DLL3 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 type 1, AR (sequence analysis of DLL3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DLL3 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

DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the DLL3 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 DLL3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DLL3 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

Spondylocostal dysostosis, autosomal recessive type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DLL3 gene.

More info about this panel

Potentially lethal skeletal disorders Panel Panel

Germany.

By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1

More info about this panel

Spondylocostal dysostosis type 1, autosomal recessive: DLL3 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the DLL3 gene.

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

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

DLL3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DLL3 gene.

More info about this panel

Facial Dysostosis and Related Disorders Panel Panel

Finland.

By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

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

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

Autosomal recessive spondylocostal dysostosis type 1 Panel

Spain.

By Bioarray

This panel specifically test the DLL3 gene.

More info about this panel

Autosomal recessive spondylocostal dysostosis type 1 Panel

Spain.

By Bioarray

This panel specifically test the DLL3 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 1, Sequencing DLL3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DLL3 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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KCNMB1 TNNI3 TJP2 KIF4A

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more