SFXN4 gene related symptoms and diseases
All the information presented here about the SFXN4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SFXN4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Intellectual disability, mild | Very Common - Between 80% and 100% cases |
| Difficulty running | Very Common - Between 80% and 100% cases |
| Macrocytic anemia | Very Common - Between 80% and 100% cases |
| Increased serum lactate | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SFXN4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Lactic acidosis
- Dysmetria
- Acidosis
- Tremor
- Generalized hypotonia
- Skeletal muscle atrophy
- Intrauterine growth retardation
- Visual impairment
And 4 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SFXN4 gene
Here you will find a list of rare diseases related to the SFXN4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME
Description
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.
Most common symptoms of GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME
- Intellectual disability
- Generalized hypotonia
- Growth delay
- Anemia
- Delayed speech and language development
More info about GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME
Search interest in SFXN4
Potential gene panels for SFXN4 gene
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.
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 Germany.
Combined oxidative phosphorylation deficiency type 18 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SFXN4 gene.
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.
SFXN4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SFXN4 gene.
More info about this panel United States.
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