MCM8 gene related symptoms and diseases
All the information presented here about the MCM8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MCM8 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Hypergonadotropic hypogonadism | Very Common - Between 80% and 100% cases |
Delayed menarche | Very Common - Between 80% and 100% cases |
Hypoplasia of the ovary | Very Common - Between 80% and 100% cases |
Hypoplasia of the vagina | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MCM8 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Elevated circulating luteinizing hormone level
- Elevated circulating follicle stimulating hormone level
- Hypoplasia of the uterus
- Premature ovarian insufficiency
- Azoospermia
- Primary amenorrhea
- Seizures
- Amenorrhea
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MCM8 gene
Here you will find a list of rare diseases related to the MCM8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PREMATURE OVARIAN FAILURE 10; POF10
Description
Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM ).For a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM ).
Most common symptoms of PREMATURE OVARIAN FAILURE 10; POF10
- Intellectual disability
- Seizures
- Hearing impairment
- Intellectual disability, mild
- Hypogonadism
More info about PREMATURE OVARIAN FAILURE 10; POF10
SOURCES: OMIM
Search interest in MCM8
Potential gene panels for MCM8 gene
Premature Ovarian Failure Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Premature Ovarian Failure Sequencing Panel that also includes the following genes: BMP15 FOXL2 MCM8 PSMC3IP HFM1 NOBOX FIGLA FSHR LMNA NR5A1
More info about this panelPremature Ovarian Failure Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Premature Ovarian Failure Deletion/Duplication Panel that also includes the following genes: BMP15 FOXL2 MCM8 PSMC3IP HFM1 NOBOX FIGLA FSHR LMNA NR5A1
More info about this panelPremature Ovarian Failure via MCM8 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MCM8 gene.
More info about this panelFemale Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panelPremature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection that also includes the following genes: BMP15 FOXL2 STAG3 MCM8 PSMC3IP HFM1 CLPP MCM9 NOBOX FIGLA
More info about this panelMCM8 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MCM8 gene.
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