MIPEP gene related symptoms and diseases

All the information presented here about the MIPEP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MIPEP gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Deeply set eye Very Common - Between 80% and 100% cases
Left ventricular noncompaction Very Common - Between 80% and 100% cases
Neuronal loss in central nervous system 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 MIPEP gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Gliosis
  • Bulbous nose
  • Lactic acidosis
  • Facial asymmetry
  • Dilated cardiomyopathy
  • Wide mouth
  • Hypertrophic cardiomyopathy
  • Acidosis

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MIPEP gene

Here you will find a list of rare diseases related to the MIPEP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Description

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Most common symptoms of LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for MIPEP gene

MIPEP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MIPEP gene.

More info about this panel


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