1. Mendelian
  2. Rare Disease Genes
  3. MMEL1

MMEL1 gene related symptoms and diseases

All the information presented here about the MMEL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to MMEL1 gene

Symptoms // Phenotype % Cases
Hypertension Very Common - Between 80% and 100% cases
Conjugated hyperbilirubinemia Very Common - Between 80% and 100% cases
Celiac disease Very Common - Between 80% and 100% cases
Osteomalacia Very Common - Between 80% and 100% cases
Keratoconjunctivitis sicca Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MMEL1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Abnormality of lipid metabolism
  • Hepatocellular carcinoma
  • Xerostomia
  • Antinuclear antibody positivity
  • Excessive daytime somnolence
  • Allergy
  • Cholangitis
  • Abnormality of the thyroid gland

And 36 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MMEL1 gene

Here you will find a list of rare diseases related to the MMEL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PRIMARY BILIARY CHOLANGITIS

Alternate names

PRIMARY BILIARY CHOLANGITIS Is also known as pbc, hanot syndrome, primary biliary cirrhosis

Description

Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.

Most common symptoms of PRIMARY BILIARY CHOLANGITIS

  • Hypertension
  • Fatigue
  • Diarrhea
  • Encephalopathy
  • Osteoporosis


More info about PRIMARY BILIARY CHOLANGITIS

SOURCES: ORPHANET OMIM


Potential gene panels for MMEL1 gene

Muscular Dystrophies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Muscular Dystrophies NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN MMEL1 CAPN3 DNAJB6

More info about this panel
United States.

MMEL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MMEL1 gene.

More info about this panel
United States.

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