TBX3 gene related symptoms and diseases

All the information presented here about the TBX3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TBX3 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Supraventricular tachycardia Very Common - Between 80% and 100% cases
Wide nasal base Very Common - Between 80% and 100% cases
Breast hypoplasia Very Common - Between 80% and 100% cases
Perimembranous ventricular septal defect Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TBX3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Gonadotropin deficiency
  • Broad face
  • Abnormality of the uterus
  • Wolff-Parkinson-White syndrome
  • Sparse lateral eyebrow
  • Sparse axillary hair
  • Ectopic anus
  • Anterior pituitary hypoplasia

And 84 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TBX3 gene

Here you will find a list of rare diseases related to the TBX3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ULNAR-MAMMARY SYNDROME

Alternate names

ULNAR-MAMMARY SYNDROME Is also known as schinzel syndrome, ums, pallister ulnar-mammary syndrome

Description

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

Most common symptoms of ULNAR-MAMMARY SYNDROME

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis


More info about ULNAR-MAMMARY SYNDROME

SOURCES: OMIM ORPHANET MESH


Potential gene panels for TBX3 gene

TBX3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TBX3 gene.

More info about this panel
Spain.

Ulnar-mammary syndrome (sequence analysis of TBX3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TBX3 gene.

More info about this panel
Portugal.

Ulnar-Mammary Syndrome via TBX3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TBX3 gene.

More info about this panel
United States.

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

More info about this panel
United States.

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel
United States.

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel
United States.

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel
Germany.

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel
Germany.

Ulnar-Mammary Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the TBX3 gene.

More info about this panel
Germany.

Ulnar-Mammary syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TBX3 gene.

More info about this panel
Germany.

Congenital Heart Defects Panel Panel

Germany.

By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1

More info about this panel
Germany.

Selected Genetic Syndromes with skeletal involvement Panel Panel

Germany.

By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6

More info about this panel
Germany.

Ulnar-Mammary Syndrom Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TBX3 gene.

More info about this panel
Austria.

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
Spain.

Ulnar-Mammary Syndrom Panel

Slovakia.

By MedGene

This panel specifically test the TBX3 gene.

More info about this panel
Slovakia.

Invitae Ulnar-Mammary Syndrome Test Panel

United States.

By Invitae

This panel specifically test the TBX3 gene.

More info about this panel
United States.

Limb Malformation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5

More info about this panel
United States.

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel
United States.

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel
United States.

TBX3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TBX3 gene.

More info about this panel
United States.

Comprehensive Short Stature Syndrome Panel Panel

Finland.

By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B

More info about this panel
Finland.

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel
Finland.

Limb Malformations Panel Panel

Finland.

By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL

More info about this panel
Finland.

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel
Finland.

Ulnar-mammary syndrome Panel

Spain.

By Bioarray

This panel specifically test the TBX3 gene.

More info about this panel
Spain.

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel
United States.

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel
United States.

Ulnar-Mammary Syndrome , Sequencing TBX3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TBX3 gene.

More info about this panel
Spain.

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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