Hyperuricemic Nephropathy, Familial Juvenile, 4; Hnfj4

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperuricemic Nephropathy, Familial Juvenile, 4; Hnfj4

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Dilatation
  • Recurrent infections
  • Polydactyly

And another 15 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.)
— The onset for some of the known clinical features related to this disease may vary, including congenital 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.

Hyperuricemic Nephropathy, Familial Juvenile, 4; Hnfj4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Polycystic kidney and liver disease modifier panel.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

HNF1B, TSC1, TSC2, UMOD, DNAJB11, SEC61B, SEC61A1, SEC63, ALG8, DZIP1L, GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, REN
Specificity
6 %
Genes
100 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SDCCAG8, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, DNAJB11, ZNF423, DICER1, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Polycystic kidney disease and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

HNF1B, TSC1, TSC2, UMOD, ALG9, ZNF423, INVS, SEC61A1, BICC1, OFD1, ANKS6, GLIS3, TMEM231, GANAB, LRP5, MUC1, NOTCH2, NPHP3, ATP6V0A4, PKD1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Polycystic kidney disease and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

HNF1B, TSC1, TSC2, UMOD, ALG9, ZNF423, INVS, SEC61A1, BICC1, OFD1, ANKS6, GLIS3, TMEM231, GANAB, LRP5, MUC1, NOTCH2, NPHP3, ATP6V0A4, PKD1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Polycystic kidney disease and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

HNF1B, TSC1, TSC2, UMOD, ALG9, ZNF423, INVS, SEC61A1, BICC1, OFD1, ANKS6, GLIS3, TMEM231, GANAB, LRP5, MUC1, NOTCH2, NPHP3, ATP6V0A4, PKD1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

UMOD, SEC61A1, REN
Specificity
34 %
Genes
100 %
Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

UMOD, SEC61A1, REN
Specificity
34 %
Genes
100 %
Hyperuricemic nephropathy, familial juvenile NGS panel.

By Connective Tissue Gene Tests (United States).

UMOD, SEC61A1, REN
Specificity
34 %
Genes
100 %

You can get up to 3 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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