CDCA7 gene related symptoms and diseases

All the information presented here about the CDCA7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CDCA7 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Epicanthus Very Common - Between 80% and 100% cases
Agammaglobulinemia Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Flat face Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CDCA7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Respiratory tract infection
  • Hypospadias
  • Recurrent infections
  • Immunodeficiency
  • Short nose
  • Decreased antibody level in blood
  • Low-set ears
  • Cryptorchidism

And 47 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 CDCA7 gene

Here you will find a list of rare diseases related to the CDCA7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ICF SYNDROME


Alternate names

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome, immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16, ciid, immunodeficiency-centromeric instability-facial anomalies syndrome, immunodeficiency syndrome, variable

Description

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

Most common symptoms of ICF SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


More info about ICF SYNDROME

SOURCES: ORPHANET OMIM

IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3


Description

Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Most common symptoms of IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

SOURCES: OMIM


Potential gene panels for CDCA7 gene

CDCA7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CDCA7 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

ICF SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL ICF SYNDROME that also includes the following genes: CDCA7 ZBTB24 DNMT3B HELLS

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 JAG2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more