POGZ gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to POGZ gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Delayed myelination Very Common - Between 80% and 100% cases
Autism Very Common - Between 80% and 100% cases
Mandibular prognathia Very Common - Between 80% and 100% cases
Gastroesophageal reflux Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Thin upper lip vermilion
  • Joint laxity
  • Coloboma
  • Short philtrum
  • Hypermetropia
  • Astigmatism
  • Iris coloboma
  • Downturned corners of mouth

And 46 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 POGZ gene

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


INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Alternate names

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37, mental retardation, autosomal dominant 37

Description

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

Most common symptoms of INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

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


More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for POGZ gene

AutismNext Panel

United States.

By Ambry Genetics AutismNext that also includes the following genes: SCN2A SLC6A8 SLC9A6 SMC1A CDKL5 SYNGAP1 TBR1 TCF4 MED12 TSC1

More info about this panel

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel

White-Sutton Syndrome via POGZ Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the POGZ gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

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

Mental retardation, autosomal dominant type 37 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the POGZ gene.

More info about this panel

POGZ Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POGZ gene.

More info about this panel

Autism Spectrum Disorders Panel Panel

Finland.

By Blueprint Genetics Autism Spectrum Disorders Panel that also includes the following genes: RPL10 TCF20 TRIP12 TSC1 TSC2 BCL11A CACNA1C NSD1 NLGN4X NLGN3

More info about this panel

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RHCE CPNE4 CEP152 CLDN19

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more