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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Urofacial Syndrome 2; Ufs2

  • Neoplasm
  • Renal insufficiency
  • Constipation
  • Hydronephrosis
  • Vesicoureteral reflux
  • Urinary incontinence
  • Recurrent urinary tract infections
  • Nephroblastoma
  • Urinary urgency
  • Enuresis

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Urofacial Syndrome 2; Ufs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LRIG2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

LRIG2
Specificity
100 %
Genes
100 %
Urofacial syndrome 2 (sequence analysis of LRIG2 gene).

By CGC Genetics (Portugal).

LRIG2
Specificity
100 %
Genes
100 %
Urofacial syndrome (NGS panel of 2 genes).

By CGC Genetics (Portugal).

HPSE2, LRIG2
Specificity
50 %
Genes
100 %
Urofacial Syndrome 2 via LRIG2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

LRIG2
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center (Germany).

ROBO2, SALL1, BLK, BMP4, BMP7, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC3A1, SLC7A9, SMARCAL1, HNF1A, HNF1B, KLF11, TRPC6, TSC1, TSC2, UMOD , (...)

View the complete list with 95 more genes
Specificity
1 %
Genes
100 %
Urofacial syndrome.

By Centogene AG - the Rare Disease Company (Germany).

LRIG2
Specificity
100 %
Genes
100 %
LRIG2.

By Fulgent Genetics Fulgent Genetics (United States).

LRIG2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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