HPSE2 gene related symptoms and diseases

All the information presented here about the HPSE2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HPSE2 gene

Symptoms // Phenotype % Cases
Cryptorchidism Very Common - Between 80% and 100% 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

Other less frequent symptoms and clinical features

Patients with HPSE2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Urinary incontinence
  • Recurrent urinary tract infections
  • Polydipsia
  • Urethral obstruction
  • Hypertension
  • Not very common - Between 30% and 50% cases

  • Pyelonephritis
  • Enuresis
  • Wolff-Parkinson-White syndrome

And 27 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HPSE2 gene

Here you will find a list of rare diseases related to the HPSE2. 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 1; UFS1


Alternate names

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities, ochoa syndrome, hydronephrosis with peculiar facial expression, urofacial syndrome, inverted smile and occult neuropathic bladder, ufs

Description

The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

Most common symptoms of UROFACIAL SYNDROME 1; UFS1

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


More info about UROFACIAL SYNDROME 1; UFS1

SOURCES: OMIM


Potential gene panels for HPSE2 gene

Ochoa syndrome (sequence analysis of HPSE2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HPSE2 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

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B

More info about this panel

Urofacial Syndrome 1 via HPSE2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HPSE2 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

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

HPSE2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HPSE2 gene.

More info about this panel

Ochoa Syndrome , Sequencing HPSE2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HPSE2 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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