GFER gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to GFER gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Congenital cataract Very Common - Between 80% and 100% cases
Decreased serum ferritin Very Common - Between 80% and 100% cases
Infantile axial hypotonia Very Common - Between 80% and 100% cases
Decreased activity of mitochondrial respiratory chain Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Rotary nystagmus
  • Progressive sensorineural hearing impairment
  • Bilateral ptosis
  • Reduced tendon reflexes
  • Progressive hearing impairment
  • Lactic acidosis
  • Muscular hypotonia of the trunk
  • Generalized hypotonia

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GFER gene

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


CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME


Alternate names

CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME Is also known as myopathy with cataract and combined respiratory chain deficiency, mitochondrial complex deficiency, combined, congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Description

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.

Most common symptoms of CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment


More info about CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME

SOURCES: OMIM MESH ORPHANET


Potential gene panels for GFER gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

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

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3

More info about this panel

Myopathy, mitochondrial progressive with congenital cataract, hearing loss anddevelopmental delay (sequence analysis of GFER gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GFER gene.

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

Mitochondrial Depletion Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Depletion that also includes the following genes: SUCLA2 SUCLG1 TWNK TK2 MGME1 RRM2B DGUOK TYMP GFER MPV17

More info about this panel

Combined Respiratory Chain Defects Panel

Germany.

By MGZ Medical Genetics Center Combined Respiratory Chain Defects that also includes the following genes: SUCLA2 SUCLG1 TK2 TSFM TUFM GFM1 MRPS16 MRPS22 PUS1 LRPPRC

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

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

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GFER gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Single gene testing GFER Panel

Germany.

By CeGaT GmbH

This panel specifically test the GFER gene.

More info about this panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Estonia.

By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

GFER Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GFER gene.

More info about this panel

Mitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

By Reference Laboratory Genetics Mitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 TWNK TK2 MFN2 RRM2B DGUOK TYMP GFER

More info about this panel


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