Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome; Hupras

Description

HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely (summary by Belostotsky et al., 2011).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome; Hupras

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Hypertension
  • Renal insufficiency
  • Thrombocytopenia
  • Diabetes mellitus
  • Respiratory failure
And another 16 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome; Hupras Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
SARS2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SARS2
Specificity
100 %
Genes
100 %
SARS2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SARS2
Specificity
100 %
Genes
100 %
SARS2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SARS2
Specificity
100 %
Genes
100 %
SARS2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SARS2
Specificity
100 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
6 %
Genes
100 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
6 %
Genes
100 %
Hypomagnesemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HNF1B, SARS2, CASR, SLC12A3, BSND, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
7 %
Genes
100 %
Mitochondrial Hypomagnesemia via SARS2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SARS2
Specificity
100 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AARS2, ACAD9, YARS2, UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, TWNK, C12orf65, ELAC2, OPA1, TRMU, DLD, POLG, NDUFS4, SLC25A4, GARS, AFG3L2, FOXRED1 , (...)

View the complete list with 154 more genes
Specificity
1 %
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 %
Combined Respiratory Chain Defects.

By MGZ Medical Genetics Center in Germany.

AARS2, YARS2, C12orf65, TRMU, POLG, RRM2B, MTO1, DGUOK, SARS2, MTPAP, GFER, SUCLA2, MRPS22, RARS2, DARS2, TUFM, TSFM, MRPS16, TK2, GFM1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center in Germany.

ELN, SARS2, CFTR, ENG, NOTCH3, CAV3, COL4A1, NOTCH1, ACVRL1, BMPR1B, CCNO, DNAAF4, KCNK3, CAV1, SMAD9, DNAAF3, DNAAF1, RSPH9, RSPH4A, DNAAF2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, SDHAF2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, SLC25A19, SLC25A4 , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
100 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
SARS2.

By Fulgent Genetics Fulgent Genetics in United States.

SARS2
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Hypomagnesemia Panel.

By Blueprint Genetics in Finland.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, MAGT1, CNNM4, PCBD1, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF, NIPA2
Specificity
6 %
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 %
Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

HNF1B, SARS2, CASR, SLC12A3, CLCNKB, KCNA1, KCNJ10, PCBD1, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
8 %
Genes
100 %

Alternate names

Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome; Hupras Is also known as hupra syndrome;hupra syndrome.


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