Hyperuricemic Nephropathy, Familial Juvenile, 2; Hnfj2

Description

Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperuricemic Nephropathy, Familial Juvenile, 2; Hnfj2

  • Anemia
  • Renal insufficiency
  • Renal cyst
  • Nephropathy
  • Renal hypoplasia
  • Chronic kidney disease
  • Focal segmental glomerulosclerosis
  • Gout
  • Hyperuricemia
  • Tubular atrophy
And another 2 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Hyperuricemic Nephropathy, Familial Juvenile, 2; Hnfj2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

VHL, INVS, HNF1B, INPP5E, CC2D2A, JAG1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, XPNPEP3, IQCB1, BBS7, BBS5, BBS12 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
ExomePLUS Cystic Disease & Dysplasia/Agenesis.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

INVS, EYA1, WT1, HNF1B, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, GATA3, ACE, BMP4, ANKS6, FRAS1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Polycystic kidney and liver disease modifier panel.

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

LRP5, HNF1B, ALG8, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, PRKCSH, REN, SEC63, SEC61B, DNAJB11, DZIP1L, SEC61A1, GANAB
Specificity
6 %
Genes
100 %
Renal tubular dysgenesis (sequence analysis of REN gene).

By CGC Genetics in Portugal.

REN
Specificity
100 %
Genes
100 %
Familial juvenile hyperuricemic nephropathy (sequence analysis of REN gene).

By CGC Genetics in Portugal.

REN
Specificity
100 %
Genes
100 %
Familial juvenile hyperuricemic nephropathy (sequence analysis of REN gene).

By CGC Genetics in Portugal.

REN
Specificity
100 %
Genes
100 %
Hyperuricemic nephropathy, familial juvenile, 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

REN
Specificity
100 %
Genes
100 %
Test for Renal Tubular Dysgenesis, REN-Related.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

REN
Specificity
100 %
Genes
100 %
Renal tubular dysgenesis.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

ACE, REN, AGT, AGTR1
Specificity
25 %
Genes
100 %
Benign hyperproreninemia.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

REN
Specificity
100 %
Genes
100 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, HNF1B, RET, PAX2, FGFR2, NIPBL, UMOD, SALL1, SIX5, SIX1, GATA3, MYH9, FOXP1, FAT4, GLI2, GLI3, SOX11, ACE, FREM1, BMP4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the REN Gene.

By PreventionGenetics PreventionGenetics in United States.

REN
Specificity
100 %
Genes
100 %
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACE, REN, AGT, AGTR1
Specificity
25 %
Genes
100 %
Renal tubular dysgenesis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ACE, REN, AGT, AGTR1
Specificity
25 %
Genes
100 %
Renal tubular dysgenesis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ACE, REN, AGT, AGTR1
Specificity
25 %
Genes
100 %
Renal tubular dysgenesis NGS panel.

By Connective Tissue Gene Tests in United States.

ACE, REN, AGT, AGTR1
Specificity
25 %
Genes
100 %
Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

UMOD, REN, SEC61A1
Specificity
34 %
Genes
100 %
Familial juvenile hyperuricemic nephropathy type 2.

By Institute of Human Genetics Cologne University in Germany.

REN
Specificity
100 %
Genes
100 %
Renal tubular dysgenesis, REN-related.

By Institute of Human Genetics Cologne University in Germany.

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

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
Renal tubular dysgenesis.

By Centogene AG - the Rare Disease Company in Germany.

REN
Specificity
100 %
Genes
100 %
Renal Tubular Dysgenesis Panel.

By CeGaT GmbH in Germany.

ACE, REN, AGT, AGTR1
Specificity
25 %
Genes
100 %
REN.

By Fulgent Genetics Fulgent Genetics in United States.

REN
Specificity
100 %
Genes
100 %
Renal Malformation Panel.

By Blueprint Genetics in Finland.

EYA1, WT1, HNF1B, RET, PAX2, SALL1, SIX5, SIX1, GATA3, FOXC2, FANCB, ACTG2, ACE, FREM1, BMP4, FREM2, CCNQ, REN, AGT, ROBO2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Purine and Pyrimidine Metabolism Disorders Panel.

By Blueprint Genetics in Finland.

ADSL, HPRT1, DHODH, ATIC, XDH, NT5C3A, MOCS1, ADA, APRT, PNP, DPYD, UMOD, PRPS1, AMPD1, TPMT, REN, UMPS, GPHN, UPB1, DPYS , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

WNK1, HSD11B2, SLC12A3, SCNN1A, SCNN1B, CLCNKB, CLCNKA, AGTR2, NEDD4L, GNB3, ACE, NR3C2, NPPA, REN, NOS3, AGT, ECE1, ADRB2, AGTR1, STK39 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE TYPE2.

By Laboratorio de Genetica Clinica SL in Spain.

REN
Specificity
100 %
Genes
100 %
RENAL TUBULAR DYSGENESIS.

By Laboratorio de Genetica Clinica SL in Spain.

ACE, REN, AGT, AGTR1
Specificity
25 %
Genes
100 %
Familial Juvenile Hyperuricemic Nephropathy Type 2 , Sequencing REN Gene.

By Reference Laboratory Genetics in Spain.

REN
Specificity
100 %
Genes
100 %
Renal Tubular Dysgenesis , Panel Massive Sequencing (NGS) ACE, AGT, AGTR1, REN Genes.

By Reference Laboratory Genetics in Spain.

ACE, REN, AGT, AGTR1
Specificity
25 %
Genes
100 %

Alternate names

Hyperuricemic Nephropathy, Familial Juvenile, 2; Hnfj2 Is also known as early-onset hyperuricemia, anemia, and progressive kidney failure;adtkd-ren; fjhn type 2; familial juvenile hyperuricemic nephropathy type 2; ren-associated fjhn; ren-associated familial juvenile hyperuricemic nephropathy; ren-associated kidney disease.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD LONG QT SYNDROME 5; LQT5 MICROPHTHALMIA WITH LIMB ANOMALIES; MLA