Hypophosphatemic Rickets With Hypercalciuria, Hereditary; Hhrh

Description

Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypophosphatemic Rickets With Hypercalciuria, Hereditary; Hhrh

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Muscle weakness
  • Frontal bossing
  • Difficulty walking
  • Recurrent fractures
  • Nephrolithiasis
And another 30 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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Hypophosphatemic Rickets With Hypercalciuria, Hereditary; Hhrh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypophosphatemic Rickets Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
10 %
Genes
100 %
Hypophosphatemic Rickets Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
10 %
Genes
100 %
ExomePLUS Electrolyte & Kidney Stone.

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

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, CASR, PHEX, FGF23, PLS3, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Rickets (NGS panel for 10 genes).

By CGC Genetics in Portugal.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
10 %
Genes
100 %
Hypophosphatemic rickets (sequence analysis of SLC34A3 gene).

By CGC Genetics in Portugal.

SLC34A3
Specificity
100 %
Genes
100 %
hypophosphatemic rickets with hypercalciuria.

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

SLC34A3
Specificity
100 %
Genes
100 %
Hypophosphatemic rickets with hypercalciuria.

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

SLC34A3
Specificity
100 %
Genes
100 %
Hereditary Hypophosphatemic Rickets with Hypercalciuria.

By Exeter Molecular Genetics Laboratory in United Kingdom.

SLC34A3
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, PHEX, FGF23, PLS3, TMEM38B, BMP1, WNT1, SERPINH1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, CYP27B1, PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
15 %
Genes
100 %
Hypophosphatemic Rickets with Hypercalciuria via the SLC34A3 Gene.

By PreventionGenetics PreventionGenetics in United States.

SLC34A3
Specificity
100 %
Genes
100 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Abnormal mineralization disorders Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
100 %
Abnormal mineralization disorders Deletion/ Duplication Panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
100 %
Abnormal mineralization disorders NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
100 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
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 %
Solute carrier family 34 (type II sodium/phosphate contransporter), member 3 (SLC34A3).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

SLC34A3
Specificity
100 %
Genes
100 %
Hypophosphatemic rickets with hypercalciuria.

By Centogene AG - the Rare Disease Company in Germany.

SLC34A3
Specificity
100 %
Genes
100 %
Hypophosphatemic rickets Panel.

By CeGaT GmbH in Germany.

SLC34A1, OCRL, FAH, VDR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1, KL
Specificity
10 %
Genes
100 %
Skeletal dysplasia with abnormal mineralization Panel.

By CeGaT GmbH in Germany.

ALPL, ANKH, SLC34A1, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, GNA11, AP2S1, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
100 %
Hypophosphatemic rickets with hypercalciuria, hereditary: SLC34A3 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC34A3
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
SLC34A3.

By Fulgent Genetics Fulgent Genetics in United States.

SLC34A3
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 %
Hypophosphatemic Rickets Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, FAH, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1, KL
Specificity
8 %
Genes
100 %
Osteogenesis Imperfecta Panel.

By Blueprint Genetics in Finland.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PHEX, FGF23, MBTPS2, PLS3, SPARC, TMEM38B, BMP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA.

By Laboratorio de Genetica Clinica SL in Spain.

SLC34A3
Specificity
100 %
Genes
100 %
HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA.

By Laboratorio de Genetica Clinica SL in Spain.

SLC34A3
Specificity
100 %
Genes
100 %
FAMILIAL HYPOPHOSPHATEMIC RICKETS: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
20 %
Genes
100 %
HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
20 %
Genes
100 %
Hereditary Hypophosphatemic Rickets with Hypercalciuria , Sequencing SLC34A3 Gene.

By Reference Laboratory Genetics in Spain.

SLC34A3
Specificity
100 %
Genes
100 %
Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, CYP27B1, PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
15 %
Genes
100 %
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, FAM20C, VDR, CTNS, CASR, HNF4A, PHEX, FGF23, TJP2, PTH1R, ABCC6, SLC4A1, ATP6V0A4, BAAT , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %

Alternate names

Hypophosphatemic Rickets With Hypercalciuria, Hereditary; Hhrh Is also known as hypercalciuric rickets;hhrh.



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