LRIG2 gene related symptoms and diseases
All the information presented here about the LRIG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LRIG2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Renal insufficiency | Very Common - Between 80% and 100% cases |
| Constipation | Very Common - Between 80% and 100% cases |
| Hydronephrosis | Very Common - Between 80% and 100% cases |
| Vesicoureteral reflux | Very Common - Between 80% and 100% cases |
| Urinary incontinence | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LRIG2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent urinary tract infections
Not very common - Between 30% and 50% cases
- Cryptorchidism
- Hypertension
- Polydipsia
- Bowel incontinence
- Urethral obstruction
- Neoplasm
- Nephroblastoma
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LRIG2 gene
Here you will find a list of rare diseases related to the LRIG2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OCHOA SYNDROME
Alternate names
OCHOA SYNDROME Is also known as partial facial palsy with urinary abnormalities, inverted smile-neurogenic bladder syndrome, urofacial syndrome, hydronephrosis-inverted smile syndrome
Description
Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.
Most common symptoms of OCHOA SYNDROME
- Cryptorchidism
- Hypertension
- Renal insufficiency
- Constipation
- Hydronephrosis
More info about OCHOA SYNDROME
SOURCES: ORPHANET
UROFACIAL SYNDROME 2; UFS2
Description
Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by Stuart et al., 2013).For a discussion of genetic heterogeneity of UFS, see UFS1 (OMIM ).
Most common symptoms of UROFACIAL SYNDROME 2; UFS2
- Neoplasm
- Renal insufficiency
- Constipation
- Hydronephrosis
- Vesicoureteral reflux
More info about UROFACIAL SYNDROME 2; UFS2
Search interest in LRIG2
Potential gene panels for LRIG2 gene
LRIG2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LRIG2 gene.
More info about this panel Spain.
Urofacial syndrome 2 (sequence analysis of LRIG2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LRIG2 gene.
More info about this panel Portugal.
Urofacial syndrome (NGS panel of 2 genes) Panel
Portugal.
By CGC Genetics Urofacial syndrome (NGS panel of 2 genes) that also includes the following genes: HPSE2 LRIG2
More info about this panel Portugal.
Urofacial Syndrome 2 via LRIG2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the LRIG2 gene.
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
Urofacial syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LRIG2 gene.
More info about this panel Germany.
LRIG2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LRIG2 gene.
More info about this panel United States.
Ochoa Syndrome , Sequencing LRIG2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LRIG2 gene.
More info about this panel Spain.
Urofacial Syndrome: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Urofacial Syndrome: gene sequencing panel that also includes the following genes: HPSE2 LRIG2
More info about this panel Canada.
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