UROS gene related symptoms and diseases
All the information presented here about the UROS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to UROS gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Splenomegaly | Very Common - Between 80% and 100% cases |
| Atypical scarring of skin | Very Common - Between 80% and 100% cases |
| Thrombocytopenia | Very Common - Between 80% and 100% cases |
| Osteopenia | Very Common - Between 80% and 100% cases |
| Hemolytic anemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with UROS gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormal blistering of the skin
- Cutaneous photosensitivity
- Hypertrichosis
Not very common - Between 30% and 50% cases
- Hyperpigmentation of the skin
- Joint contracture of the hand
- Conjunctivitis
- Osteolysis
- Cholelithiasis
And 35 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to UROS gene
Here you will find a list of rare diseases related to the UROS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL ERYTHROPOIETIC PORPHYRIA
Alternate names
CONGENITAL ERYTHROPOIETIC PORPHYRIA Is also known as cep, gÜnther disease
Description
Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.
Most common symptoms of CONGENITAL ERYTHROPOIETIC PORPHYRIA
- Splenomegaly
- Immunodeficiency
- Thrombocytopenia
- Osteopenia
- Abnormality of the foot
More info about CONGENITAL ERYTHROPOIETIC PORPHYRIA
SOURCES: ORPHANET
PORPHYRIA, CONGENITAL ERYTHROPOIETIC
Alternate names
PORPHYRIA, CONGENITAL ERYTHROPOIETIC Is also known as cep, uros deficiency, uroporphyrinogen iii synthase deficiency, gunther disease
Description
The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver (Gross et al., 2000).Desnick and Astrin (2002) provided a comprehensive review of congenital erythropoietic porphyria pathogenesis and treatment.One patient with a phenotype suggestive of congenital erythropoietic anemia was found to have a mutation in the GATA1 gene ({305371.0010}) that affected UROS expression (see XLTT, {314050}).
Most common symptoms of PORPHYRIA, CONGENITAL ERYTHROPOIETIC
- Short stature
- Anemia
- Splenomegaly
- Thrombocytopenia
- Alopecia
More info about PORPHYRIA, CONGENITAL ERYTHROPOIETIC
Search interest in UROS
Potential gene panels for UROS gene
Non-immune Hydrops Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panel United States.
UROS. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the UROS gene.
More info about this panel Spain.
Porphyria congenital erythropoietic (sequence analysis of UROS gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the UROS gene.
More info about this panel Portugal.
Porphyria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Porphyria Sequencing Panel with CNV Detection that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HMBS PPOX
More info about this panel United States.
Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection that also includes the following genes: UROD UROS CPOX FECH ALAS2 PPOX
More info about this panel United States.
Congenital Erythropoietic Porphyria via UROS Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the UROS gene.
More info about this panel United States.
UROS Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the UROS gene.
More info about this panel Slovakia.
Hepatic and pancreatic diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
More info about this panel Germany.
Porphyria congenital erythropoietic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the UROS gene.
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.
UROS - Congenital Erythropoietic Porphyria Panel
Sweden.
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the UROS gene.
More info about this panel Sweden.
Porphyria Panel
Estonia.
By Asper Biogene Asper Biogene LLC Porphyria that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX
More info about this panel Estonia.
NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria that also includes the following genes: UROS CLPX FECH ALAS2
More info about this panel Spain.
Porphyria, congenital erythropoietic Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the UROS gene.
More info about this panel Austria.
Porphyria, congenital erythropoietic Panel
Slovakia.
By MedGene
This panel specifically test the UROS gene.
More info about this panel Slovakia.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
UROS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the UROS gene.
More info about this panel United States.
Porphyria Panel Panel
Finland.
By Blueprint Genetics Porphyria Panel that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX
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.
Congenital Erythropoietic Porphyria , Sequencing UROS Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the UROS gene.
More info about this panel Spain.
Porphyria Related Diseases , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Porphyria Related Diseases , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: UROD UROS CPOX FECH ALAD HMBS PPOX
More info about this panel Spain.
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