UMPS gene related symptoms and diseases
All the information presented here about the UMPS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to UMPS gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Hematuria | Very Common - Between 80% and 100% cases |
| Anemia | Very Common - Between 80% and 100% cases |
| Splenomegaly | Very Common - Between 80% and 100% cases |
| Poor appetite | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with UMPS gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Iron deficiency anemia
- Wheezing
- Myeloid leukemia
- Microcytic anemia
- Osteomyelitis
- Leukocytosis
- Cholelithiasis
- Tachypnea
And 85 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to UMPS gene
Here you will find a list of rare diseases related to the UMPS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY OROTIC ACIDURIA
Alternate names
HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria, oprt and odc deficiency, uridine monophosphate synthase deficiency, orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency, orotidylic decarboxylase deficiency, orotidylic pyrophosphorylase and orotidylic decarboxylase defici
Description
Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.
Most common symptoms of HEREDITARY OROTIC ACIDURIA
- Intellectual disability
- Global developmental delay
- Hypertelorism
- Failure to thrive
- Anemia
More info about HEREDITARY OROTIC ACIDURIA
SICKLE CELL ANEMIA
Alternate names
SICKLE CELL ANEMIA Is also known as sickle cell disease
Description
Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.
Most common symptoms of SICKLE CELL ANEMIA
- Intellectual disability
- Pain
- Anemia
- Hypertension
- Hepatomegaly
More info about SICKLE CELL ANEMIA
Search interest in UMPS
Potential gene panels for UMPS gene
UMPS. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the UMPS gene.
More info about this panel Spain.
Orotic aciduria (sequence analysis of UMPS gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the UMPS gene.
More info about this panel Portugal.
Orotic Aciduria via UMPS Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the UMPS gene.
More info about this panel United States.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Orotic aciduria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the UMPS gene.
More info about this panel Germany.
UMPS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the UMPS gene.
More info about this panel United States.
Hyperammonemia and Urea Cycle Disorder Panel Panel
Finland.
By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS
More info about this panel Finland.
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel
Finland.
By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Purine and Pyrimidine Metabolism Disorders Panel Panel
Finland.
By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH
More info about this panel Finland.
Hereditary orotic aciduria Panel
Spain.
By Bioarray
This panel specifically test the UMPS gene.
More info about this panel Spain.
HEREDITARY OROTIC ACIDURIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the UMPS gene.
More info about this panel Spain.
Hereditary Orotic Aciduria, Sequencing UMPS Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the UMPS 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.
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