LFNG gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to LFNG gene

Symptoms // Phenotype % Cases
Scoliosis Very Common - Between 80% and 100% cases
Abnormal vertebral morphology Very Common - Between 80% and 100% cases
Vertebral segmentation defect Very Common - Between 80% and 100% cases
Short thorax Uncommon - Between 30% and 50% cases
Broad forehead Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Finger syndactyly
  • Confusion
  • Congenital diaphragmatic hernia
  • Abnormality of the ribs
  • Abnormal form of the vertebral bodies
  • Spina bifida
  • Hemivertebrae
  • Scapular winging

And 51 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to LFNG gene

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


SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3

Most common symptoms of SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3

  • Scoliosis
  • Camptodactyly
  • Arachnodactyly
  • Abnormal vertebral morphology
  • Vertebral segmentation defect


More info about SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3

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


Potential gene panels for LFNG gene

LFNG - Spondylocostal dysostosis 3 Panel

Switzerland.

By Centre of Molecular Diseases (CMM) CHUV

This panel specifically test the LFNG gene.

More info about this panel
Switzerland.

LFNG. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LFNG 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 3 AR (sequence analysis of LFNG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LFNG 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.

LFNG-Related Spondylocostal Dysostosis, Autosomal Recessive Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the LFNG gene.

More info about this panel
United Kingdom.

Spondylocostal Dysostosis via LFNG Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LFNG 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 III Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LFNG 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.

Congenital Disorders of Glycosylation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

More info about this panel
United States.

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.

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

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.

LFNG Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LFNG gene.

More info about this panel
United States.

Autosomal recessive spondylocostal dysostosis type 3 Panel

Spain.

By Bioarray

This panel specifically test the LFNG gene.

More info about this panel
Spain.

Autosomal recessive spondylocostal dysostosis type 3 Panel

Spain.

By Bioarray

This panel specifically test the LFNG 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 3 , Sequencing LFNG Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LFNG 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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