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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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


More info about PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY

SOURCES: MESH OMIM ORPHANET


Potential gene panels for MCM4 gene

Natural killer cell and glucocorticoid deficiency with DNA repair defect (sequence analysis of MCM4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MCM4 gene.

More info about this panel

Immunodeficiency with natural killer cell deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MCM4 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

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 panel

New Born testing (CentoICU) Panel

Germany.

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 panel

Syndromes with immunodeficiency Panel Panel

Germany.

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 panel

Defects in innate immunity Panel Panel

Germany.

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 panel

MCM4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MCM4 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 MOCS2 PDE11A ALG3 IRF3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more