PBX1 gene related symptoms and diseases

All the information presented here about the PBX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PBX1 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Horseshoe kidney Uncommon - Between 30% and 50% cases
Stage 5 chronic kidney disease Uncommon - Between 30% and 50% cases
Long face Uncommon - Between 30% and 50% cases
Vesicoureteral reflux Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PBX1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Renal agenesis
  • Ambiguous genitalia
  • Oligohydramnios
  • Renal hypoplasia
  • Renal dysplasia
  • Recurrent urinary tract infections
  • Narrow face
  • Spina bifida

And 45 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PBX1 gene

Here you will find a list of rare diseases related to the PBX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA


Alternate names

PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA Is also known as b-all, precursor b-cell acute lymphocytic leukemia, precursor b-cell acute lymphocytic leukemia/lymphoma, precursor b-cell acute lymphoblastic leukemia/lymphoma


More info about PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA

SOURCES: ORPHANET

RENAL HYPOPLASIA, BILATERAL


Description

Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.


More info about RENAL HYPOPLASIA, BILATERAL

SOURCES: ORPHANET

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED


Description

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Most common symptoms of CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

SOURCES: OMIM


Potential gene panels for PBX1 gene

RT-PCR t(1;19)(E2A/PBX1) Panel

Portugal.

By CGC Genetics RT-PCR t(1;19)(E2A/PBX1) that also includes the following genes: TCF3 PBX1

More info about this panel

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B

More info about this panel

Fluorescent in situ Hybridization - Hematopathology Panel

United States.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA Fluorescent in situ Hybridization - Hematopathology that also includes the following genes: BCL6 BCR RUNX1 ABI1 TCF3 TP53 DLEU1 CRLF2 RUNX1T1 CBFB

More info about this panel

Onco microarray for MDS/AML Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Renal Malformation Panel Panel

Finland.

By Blueprint Genetics Renal Malformation Panel that also includes the following genes: ROBO2 SALL1 BMP4 SIX1 SIX5 HNF1B WT1 ACTG2 FREM1 FREM2

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

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


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