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
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
SOURCES: OMIM
Search interest in MCM6
Potential gene panels for MCM6 gene
Lactose Intolerance Panel
By GENE Núcleo de Genética Médica de Minas Gerais
This panel specifically test the MCM6 gene.
More info about this panelMCM6. Detection of the mutations c.1917 326C>T (-13910C/T; rs4988235) and c.1362 117G>A (-22018G/A; rs182549) by sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MCM6 gene.
More info about this panelLactose intolerance (targeted mutations analysis of MCM6 gene) Panel
By CGC Genetics
This panel specifically test the MCM6 gene.
More info about this panelLactose intolerance, adult type (sequence analysis of MCM6 gene) Panel
By CGC Genetics
This panel specifically test the MCM6 gene.
More info about this panelLactose intolerance (MCM6 gene) and Celiac disease (HLA-DQ2/ HLA-DQ8) Panel
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 panelLactose Intolerance, Adult Type Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the MCM6 gene.
More info about this panelLACTOSE INTOLERANCE, ADULT TYPE Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MCM6 gene.
More info about this panelLactose intolerance Panel
By Furst Medical Laboratories, FurstNAT
This panel specifically test the MCM6 gene.
More info about this panelLactase persistance/nonpersistance Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the MCM6 gene.
More info about this panelLactase persistance/nonpersistance Panel
By MedGene
This panel specifically test the MCM6 gene.
More info about this panelMCM6 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MCM6 gene.
More info about this panelLactase non-persistence in adulthood Panel
By Bioarray
This panel specifically test the MCM6 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 DAXX INF2 PHF6 PBX1 COQ2 CBS TRAP1