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.
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
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
Search interest in CDCA7
Potential gene panels for CDCA7 gene
CDCA7 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDCA7 gene.
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelICF SYNDROME Panel
By Laboratorio de Genetica Clinica SL ICF SYNDROME that also includes the following genes: CDCA7 ZBTB24 DNMT3B HELLS
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 MEOX1 PTEN CD46 SLC19A3 ABCG2 MYO6 TAT-AS1