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.
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
Search interest in GFER
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 United States.
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 United States.
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 United States.
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 Portugal.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
Single gene testing GFER Panel
Germany.
By CeGaT GmbH
This panel specifically test the GFER gene.
More info about this panel Germany.
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 Estonia.
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 Estonia.
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 United States.
GFER Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GFER gene.
More info about this panel United States.
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 Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BCKDHA CISD2 IGKC ABCB4