MCM4 gene related symptoms and diseases
All the information presented here about the MCM4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MCM4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Delayed skeletal maturation | Very Common - Between 80% and 100% cases |
| Lymphoproliferative disorder | Very Common - Between 80% and 100% cases |
| Recurrent viral infections | Very Common - Between 80% and 100% cases |
| Chromosome breakage | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MCM4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Adrenal insufficiency
- Lymphadenopathy
- Small for gestational age
- Postnatal growth retardation
- Hypoglycemia
- Respiratory failure
- Recurrent respiratory infections
- Clinodactyly
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MCM4 gene
Here you will find a list of rare diseases related to the MCM4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY
Alternate names
PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY Is also known as natural killer cell deficiency, familial isolated, natural killer cell and glucocorticoid deficiency with dna repair defect, nkgcd, primary immunodeficiency due to mcm4 deficiency, nkcd
Description
The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.
Most common symptoms of PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
- Neoplasm
Search interest in MCM4
Potential gene panels for MCM4 gene
Natural killer cell and glucocorticoid deficiency with DNA repair defect (sequence analysis of MCM4 gene) Panel
By CGC Genetics
This panel specifically test the MCM4 gene.
More info about this panelImmunodeficiency with natural killer cell deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MCM4 gene.
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelSyndromes with immunodeficiency Panel Panel
By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1
More info about this panelDefects in innate immunity Panel Panel
By CeGaT GmbH Defects in innate immunity Panel that also includes the following genes: STAT1 TBK1 TLR3 TRAF3 TRAF3IP2 UNC93B1 CARD9 IL17F TIRAP IRAK4
More info about this panelMCM4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MCM4 gene.
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