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.
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
Search interest in LMOD1
Potential gene panels for LMOD1 gene
LMOD1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LMOD1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COQ8B SAMD11 IQSEC2 CPA1 GDF1 HNRNPH2 ZDHHC15