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
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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


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

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

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


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