MCM6 gene related symptoms and diseases

All the information presented here about the MCM6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MCM6 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Diarrhea Very Common - Between 80% and 100% cases
Abnormality of metabolism/homeostasis Very Common - Between 80% and 100% cases
Osteoporosis Very Common - Between 80% and 100% cases
Abdominal pain Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MCM6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Gastritis
  • Lactose intolerance
  • Decreased small intestinal mucosa lactase activity
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MCM6 gene

Here you will find a list of rare diseases related to the MCM6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LACTOSE INTOLERANCE, ADULT TYPE


Alternate names

LACTOSE INTOLERANCE, ADULT TYPE Is also known as adult lactase deficiency, disaccharide intolerance iii, hypolactasia, adult type

Description

In humans, the activities of lactase and most of the other digestive hydrolases are maximal at birth. The majority of the world's human population experiences a decline in production of the digestive enzyme lactase-phlorizin hydrolase during maturation, with the age of onset ranging from the toddler years to young adulthood. Due to the reduced lactase level, lactose present in dairy products cannot be digested in the small intestine and instead is fermented by bacteria in the distal ileum and colon. The fermentative products result in symptoms of diarrhea, gas bloat, flatulence, and abdominal pain. However, in a minority of adults, high levels of lactase activity persist in adulthood. Lactase persistence is a heritable autosomal dominant condition that results in a sustained ability to digest the milk sugar lactose throughout adulthood (Olds and Sibley, 2003).

Most common symptoms of LACTOSE INTOLERANCE, ADULT TYPE

  • Pain
  • Diarrhea
  • Abnormality of metabolism/homeostasis
  • Osteoporosis
  • Abdominal pain


More info about LACTOSE INTOLERANCE, ADULT TYPE

SOURCES: OMIM


Potential gene panels for MCM6 gene

Lactose Intolerance Panel

Brazil.

By GENE Núcleo de Genética Médica de Minas Gerais

This panel specifically test the MCM6 gene.

More info about this panel

MCM6. Detection of the mutations c.1917 326C>T (-13910C/T; rs4988235) and c.1362 117G>A (-22018G/A; rs182549) by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MCM6 gene.

More info about this panel

Lactose intolerance (targeted mutations analysis of MCM6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MCM6 gene.

More info about this panel

Lactose intolerance, adult type (sequence analysis of MCM6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MCM6 gene.

More info about this panel

Lactose intolerance (MCM6 gene) and Celiac disease (HLA-DQ2/ HLA-DQ8) Panel

Portugal.

By CGC Genetics Lactose intolerance (MCM6 gene) and Celiac disease (HLA-DQ2/ HLA-DQ8) that also includes the following genes: HLA-DQA1 HLA-DQB1 MCM6

More info about this panel

Lactose Intolerance, Adult Type Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the MCM6 gene.

More info about this panel

LACTOSE INTOLERANCE, ADULT TYPE Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MCM6 gene.

More info about this panel

Lactose intolerance Panel

Norway.

By Furst Medical Laboratories, FurstNAT

This panel specifically test the MCM6 gene.

More info about this panel

Lactase persistance/nonpersistance Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MCM6 gene.

More info about this panel

Lactase persistance/nonpersistance Panel

Slovakia.

By MedGene

This panel specifically test the MCM6 gene.

More info about this panel

MCM6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MCM6 gene.

More info about this panel

Lactase non-persistence in adulthood Panel

Spain.

By Bioarray

This panel specifically test the MCM6 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CDC5L EFNB1 U2AF2 PRKACG GNB4 GATAD1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more