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ZBTB18 gene related symptoms and diseases

All the information presented here about the ZBTB18 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ZBTB18 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Depressed nasal bridge Very Common - Between 80% and 100% cases
Low-set ears Very Common - Between 80% and 100% cases
Thin vermilion border Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ZBTB18 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Prominent forehead
  • Epicanthus
  • Micrognathia
  • Hypertelorism
  • Smooth philtrum
  • Microcephaly
  • Short stature
  • Global developmental delay

And 43 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ZBTB18 gene

Here you will find a list of rare diseases related to the ZBTB18. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Description

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

SOURCES: MESH OMIM

DISTAL MONOSOMY 1Q

Alternate names

DISTAL MONOSOMY 1Q Is also known as telomeric deletion 1q, distal deletion 1q, monosomy 1qter

Description

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

Most common symptoms of DISTAL MONOSOMY 1Q

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about DISTAL MONOSOMY 1Q

SOURCES: ORPHANET


Potential gene panels for ZBTB18 gene

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

ZBTB18 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZBTB18 gene.

More info about this panel
United States.

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

Spain.

By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP

More info about this panel
Spain.

Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SMARCA4 SMARCB1 ARID1A SYNGAP1 TRIO ZBTB18 CACNG2 DEAF1 SETBP1 ADNP

More info about this panel
Spain.

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