FBXL4 gene related symptoms and diseases

All the information presented here about the FBXL4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FBXL4 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Delayed myelination Very Common - Between 80% and 100% cases
Abnormality of the pinna Very Common - Between 80% and 100% cases
Protruding ear Very Common - Between 80% and 100% cases
Small for gestational age Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FBXL4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Severe global developmental delay
  • Congenital cataract
  • Lactic acidosis
  • Thick eyebrow
  • Everted lower lip vermilion
  • Short foot
  • Neutropenia
  • Brain atrophy

And 44 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FBXL4 gene

Here you will find a list of rare diseases related to the FBXL4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES


Alternate names

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES Is also known as mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Description

Mitochondrial DNA depletion syndrome-13 is an autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content (summary by Bonnen et al., 2013 and Gai et al., 2013).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Most common symptoms of MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES

SOURCES: OMIM ORPHANET


Potential gene panels for FBXL4 gene

Mitochondrial Depletion Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Mitochondrial Depletion Panel that also includes the following genes: SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TFAM TK2 FBXL4 APTX MGME1

More info about this panel

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

More info about this panel

Hypospadias Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Mitochondrial DNA depletion syndrome 13, encephalomyopathic type (MTDPS13, sequence analysis of FBXL4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FBXL4 gene.

More info about this panel

FBXL4-Related Mitochondrial DNA Depletion Syndrome via FBXL4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FBXL4 gene.

More info about this panel

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4

More info about this panel

Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 SUCLG2 TWNK TK2 FBXL4 APTX

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L SCO2 SUCLA2 SUCLG1 SURF1 TSFM FBXL4 GFM1 GTPBP3 LRPPRC

More info about this panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic that also includes the following genes: SCO1 SCO2 SUCLA2 SUCLG1 SURF1 TWNK TK2 FBXL4 SLC19A3 COQ8A

More info about this panel

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3

More info about this panel

Epilepsy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Mitochondrial DNA depletion syndrome type 13 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FBXL4 gene.

More info about this panel

Comprehensive mtDNA Depletion Syndromes NGS Panel Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Comprehensive mtDNA Depletion Syndromes NGS Panel that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 TWNK TK2 FBXL4 CHCHD10 MGME1 RRM2B DGUOK

More info about this panel

FBXL4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FBXL4 gene.

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Mitochondrial DNA Depletion Syndrome Panel Panel

Finland.

By Blueprint Genetics Mitochondrial DNA Depletion Syndrome Panel that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TIMM8A TK2 WFS1 FBXL4

More info about this panel

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM Panel

Spain.

By Laboratorio de Genetica Clinica SL MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM that also includes the following genes: SUCLA2 FBXL4 RRM2B

More info about this panel

FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FBXL4 gene.

More info about this panel


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