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.

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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

SOURCES: ORPHANET OMIM


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

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

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

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

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

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

Urofacial syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LRIG2 gene.

More info about this panel

LRIG2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LRIG2 gene.

More info about this panel

Ochoa Syndrome , Sequencing LRIG2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LRIG2 gene.

More info about this panel

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


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