LMOD1 gene related symptoms and diseases

All the information presented here about the LMOD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LMOD1 gene

Symptoms // Phenotype % Cases
Cryptorchidism Very Common - Between 80% and 100% cases
Abnormality of cardiovascular system morphology Very Common - Between 80% and 100% cases
Polyhydramnios Very Common - Between 80% and 100% cases
Umbilical hernia Very Common - Between 80% and 100% cases
Nausea and vomiting Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LMOD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abdominal distention
  • Sepsis
  • Intestinal malrotation
  • Omphalocele
  • Multicystic kidney dysplasia
  • Hydroureter
  • Abnormality of the gastrointestinal tract
  • Microcolon

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LMOD1 gene

Here you will find a list of rare diseases related to the LMOD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME


Alternate names

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME Is also known as mmihs, megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome, berdon syndrome

Description

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.

Most common symptoms of MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Polyhydramnios
  • Umbilical hernia
  • Nausea and vomiting


More info about MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

SOURCES: ORPHANET


Potential gene panels for LMOD1 gene

LMOD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LMOD1 gene.

More info about this panel


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