LYRM4 gene related symptoms and diseases
All the information presented here about the LYRM4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LYRM4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
| Growth delay | Uncommon - Between 30% and 50% cases |
| Failure to thrive | Uncommon - Between 30% and 50% cases |
| Feeding difficulties | Uncommon - Between 30% and 50% cases |
| Hepatomegaly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with LYRM4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Respiratory distress
- Acidosis
- Gastroesophageal reflux
- Neonatal hypotonia
- Elevated hepatic transaminase
- Lactic acidosis
- Hepatic steatosis
- Severe lactic acidosis
Rare diseases associated to LYRM4 gene
Here you will find a list of rare diseases related to the LYRM4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19
Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19
- Generalized hypotonia
- Growth delay
- Failure to thrive
- Feeding difficulties
- Hepatomegaly
More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19
SOURCES: OMIM
SEVERE NEONATAL LACTIC ACIDOSIS DUE TO NFS1-ISD11 COMPLEX DEFICIENCY
Description
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.
More info about SEVERE NEONATAL LACTIC ACIDOSIS DUE TO NFS1-ISD11 COMPLEX DEFICIENCY
SOURCES: ORPHANET
Search interest in LYRM4
Potential gene panels for LYRM4 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.
Combined oxidative phosphorylation deficiency type 19 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LYRM4 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.
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