UBR1 gene related symptoms and diseases
All the information presented here about the UBR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to UBR1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Severe muscular hypotonia | Very Common - Between 80% and 100% cases |
| Glycosuria | Very Common - Between 80% and 100% cases |
| Agenesis of permanent teeth | Very Common - Between 80% and 100% cases |
| Steatorrhea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with UBR1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hydroureter
- Dextrocardia
- Congenital sensorineural hearing impairment
- Clitoral hypertrophy
- Portal hypertension
- Abnormality of the genitourinary system
- Oligodontia
- Widely spaced teeth
And 99 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to UBR1 gene
Here you will find a list of rare diseases related to the UBR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
JOHANSON-BLIZZARD SYNDROME
Alternate names
JOHANSON-BLIZZARD SYNDROME Is also known as jbs, nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness
Description
Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
Most common symptoms of JOHANSON-BLIZZARD SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about JOHANSON-BLIZZARD SYNDROME
Search interest in UBR1
Potential gene panels for UBR1 gene
Pancreas Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pancreas Panel that also includes the following genes: SPINK1 CASR UBR1 CEL CFTR SBDS CLDN2 CPA1 CTRC PRSS1
More info about this panel United States.
Pancreatic Insufficiency Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pancreatic Insufficiency Panel that also includes the following genes: UBR1 CEL CFTR SBDS
More info about this panel United States.
Abnormal/Ambiguous Genitalia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panel United States.
Hypospadias Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2
More info about this panel United States.
Congenital Hypothyroidism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Hypothyroidism Deletion/Duplication Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB KDM6A DUOX2
More info about this panel United States.
Congenital Hypothyroidism Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Hypothyroidism Sequencing Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB KDM6A DUOX2
More info about this panel United States.
UBR1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the UBR1 gene.
More info about this panel Spain.
Johanson-Blizzard syndrome (sequence analysis of UBR1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the UBR1 gene.
More info about this panel Portugal.
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TRH TSHB DUOX2
More info about this panel United States.
Hypospadias Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Johanson-Blizzard Syndrome via UBR1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the UBR1 gene.
More info about this panel United States.
Ambiguous Genitalia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panel United States.
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 Germany.
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.
Johanson Blizzard syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the UBR1 gene.
More info about this panel Germany.
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
Germany.
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panel Germany.
UBR1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the UBR1 gene.
More info about this panel United States.
Pancreatitis Panel Panel
Finland.
By Blueprint Genetics Pancreatitis Panel that also includes the following genes: SPINK1 UBR1 APOA5 CFTR CPA1 GPIHBP1 CTRC APOC2 PRSS1
More info about this panel Finland.
Adams-Oliver Syndrome Panel Panel
Finland.
By Blueprint Genetics Adams-Oliver Syndrome Panel that also includes the following genes: UBR1 KCTD1 DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1
More info about this panel Finland.
Johanson-Blizzard syndrome Panel
Spain.
By Bioarray
This panel specifically test the UBR1 gene.
More info about this panel Spain.
JOHANSON-BLIZZARD SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the UBR1 gene.
More info about this panel Spain.
Johanson-Blizzard Syndrome, Sequencing UBR1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the UBR1 gene.
More info about this panel Spain.
PancreasDx Panel
United States.
By Ariel Precision Medicine PancreasDx that also includes the following genes: SPINK1 SLC26A9 CASR UBR1 CEL CFTR SBDS CLDN2 CTRC GGT1
More info about this panel United States.
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