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.
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).
Most common symptoms of UROFACIAL SYNDROME 1; UFS1
- Abnormal facial shape
- Pain
- Cryptorchidism
- Hypertension
- Fever
More info about UROFACIAL SYNDROME 1; UFS1
SOURCES: OMIM
Search interest in HPSE2
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 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.
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 United States.
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 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.
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.
HPSE2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HPSE2 gene.
More info about this panel United States.
Ochoa Syndrome , Sequencing HPSE2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HPSE2 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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