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.
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
Search interest in PBX1
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 Finland.
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 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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