SARDH gene related symptoms and diseases
All the information presented here about the SARDH 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 SARDH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Hypertrophic cardiomyopathy | Very Common - Between 80% and 100% cases |
| Glutaric aciduria | Very Common - Between 80% and 100% cases |
| Loss of speech | Very Common - Between 80% and 100% cases |
| Tetraparesis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SARDH gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Aciduria
- Pulmonic stenosis
- Abnormal pyramidal sign
- Cerebral atrophy
- Seizures
- Intellectual disability, mild
- Cardiomyopathy
- Optic atrophy
And 4 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SARDH gene
Here you will find a list of rare diseases related to the SARDH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SARCOSINEMIA
Alternate names
SARCOSINEMIA Is also known as sard deficiency, sardhd, sarcosine dehydrogenase complex deficiency, sardh deficiency, hypersarcosinemia
Description
Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.
Most common symptoms of SARCOSINEMIA
- Intellectual disability
- Seizures
- Generalized hypotonia
- Ataxia
- Muscular hypotonia
More info about SARCOSINEMIA
Search interest in SARDH
Potential gene panels for SARDH 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.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
Sarcosinemia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SARDH gene.
More info about this panel Germany.
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.
SARDH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SARDH gene.
More info about this panel United States.
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