SATB2 gene related symptoms and diseases

All the information presented here about the SATB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SATB2 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Febrile seizures Uncommon - Between 30% and 50% cases
Microretrognathia Uncommon - Between 30% and 50% cases
Long eyelashes Uncommon - Between 30% and 50% cases
Dental crowding Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SATB2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Broad thumb
  • Broad-based gait
  • Thin skin
  • Hemiparesis
  • Short palpebral fissure
  • Fine hair
  • Intellectual disability, profound
  • Decreased testicular size

And 110 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 SATB2 gene

Here you will find a list of rare diseases related to the SATB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


2Q32Q33 MICRODELETION SYNDROME


Alternate names

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33, 2q32-q33 microdeletion syndrome, del(2)(q32q33), chromosome 2q32-q33 deletion syndrome, monosomy 2q32q33, del(2)(q32), monosomy 2q32

Description

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

Most common symptoms of 2Q32Q33 MICRODELETION SYNDROME

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


More info about 2Q32Q33 MICRODELETION SYNDROME

SOURCES: ORPHANET OMIM MESH

2Q33.1 MICRODELETION SYNDROME


Alternate names

2Q33.1 MICRODELETION SYNDROME Is also known as monosomy 2q33.1, satb2-associated syndrome, del(2)(q33.1)

Description

2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.


More info about 2Q33.1 MICRODELETION SYNDROME

SOURCES: ORPHANET


Potential gene panels for SATB2 gene

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

IDNext Panel

United States.

By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Cleft lip, cleft palate and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders NGS panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2

More info about this panel

Cleft lip, cleft palate and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders Deletion / Duplication panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2

More info about this panel

Cleft lip, cleft palate and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders Comprehensive panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2

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

Glass syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SATB2 gene.

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Invitae Epilepsy Panel Panel

United States.

By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1

More info about this panel

Invitae Rett and Angelman Syndromes and Related Disorders Panel Panel

United States.

By Invitae Invitae Rett and Angelman Syndromes and Related Disorders Panel that also includes the following genes: SCN8A SLC9A6 CDKL5 STXBP1 TCF4 UBE3A CNTNAP2 ZEB2 NGLY1 MBD5

More info about this panel

Invitae Glass Syndrome Test Panel

United States.

By Invitae

This panel specifically test the SATB2 gene.

More info about this panel

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

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

SATB2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SATB2 gene.

More info about this panel

Cleft Lip/Palate and Associated Syndromes Panel Panel

Finland.

By Blueprint Genetics Cleft Lip/Palate and Associated Syndromes Panel that also includes the following genes: TBX22 KDM6A TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3

More info about this panel

CHROMOSOME 2q32-q33 DELETION SYNDROME/ Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SATB2 gene.

More info about this panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

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 PSEN2 HECW2 CYP2C9 GATA2 EFHC1 USP9X

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more