ZBTB24 gene related symptoms and diseases
All the information presented here about the ZBTB24 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ZBTB24 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Anteverted nares | Very Common - Between 80% and 100% cases |
| Decreased antibody level in blood | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Agammaglobulinemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ZBTB24 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Chronic bronchitis
- Respiratory tract infection
- Recurrent respiratory infections
- Pneumonia
- Recurrent infections
- Short nose
- Immunodeficiency
- Abnormal facial shape
And 43 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ZBTB24 gene
Here you will find a list of rare diseases related to the ZBTB24. 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 2; ICF2
Description
Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).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 2; ICF2
- Intellectual disability
- Global developmental delay
- Growth delay
- Hypertelorism
- Abnormal facial shape
More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2
SOURCES: OMIM
Search interest in ZBTB24
Potential gene panels for ZBTB24 gene
Immunodeficiency-centromeric instability-facial anomalies syndrome type2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ZBTB24 gene.
More info about this panel Germany.
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 Germany.
Invitae Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome Panel Panel
United States.
By Invitae Invitae Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome Panel that also includes the following genes: ZBTB24 DNMT3B
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
ZBTB24 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ZBTB24 gene.
More info about this panel United States.
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 Finland.
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 Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SLC12A2 PEX19 MED17 KIF5A FOXF1 SLC24A4 GRHL2