Hypophosphatemic Rickets, X-linked Dominant; Xlhr

Description

X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with bone deformities, short stature, dental anomalies, and at the biologic level, hypophosphatemia with low renal phosphate reabsorption, normal serum calcium level with hypocalciuria, normal or low serum level of vitamin D (1,25(OH)2D3, or calcitriol), normal serum level of PTH, and increased activity of serum alkaline phosphatases (summary by Gaucher et al., 2009).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypophosphatemic Rickets, X-linked Dominant; Xlhr

  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Muscle weakness
  • Neoplasm
  • Hypertension
  • Frontal bossing
  • Abnormality of the skeletal system
  • Abnormality of the dentition
And another 49 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Hypophosphatemic Rickets, X-linked Dominant; Xlhr have a estimated prevalence of 0.21 per 100k worldwide.


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Hypophosphatemic Rickets, X-linked Dominant; Xlhr Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PHEX (Hypophosphatemic Rickets) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

PHEX
Specificity
100 %
Genes
100 %
Hypophosphatemic Rickets Evalation.

By Athena Diagnostics Inc in United States.

PHEX, FGF23
Specificity
50 %
Genes
100 %
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 %
PHEX Gene Sequencing (Males).

By GeneDx in United States.

PHEX
Specificity
100 %
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 %
PHEX. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PHEX
Specificity
100 %
Genes
100 %
Hypophosphatemic rickets (delection/duplication analysis of PHEX gene).

By CGC Genetics in Portugal.

PHEX
Specificity
100 %
Genes
100 %
Hypophosphatemic rickets (sequence analysis of PHEX gene).

By CGC Genetics in Portugal.

PHEX
Specificity
100 %
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 %
Familial x-linked hypophosphatemic vitamin D refractory rickets.

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

PHEX
Specificity
100 %
Genes
100 %
X-Linked Hypophosphatemia.

By Exeter Molecular Genetics Laboratory in United Kingdom.

PHEX
Specificity
100 %
Genes
100 %
Hypophosphatemia, X-Linked, via the PHEX Gene.

By PreventionGenetics PreventionGenetics in United States.

PHEX
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 %
PHEX.

By Department of Clinical Genetics Odense University Hospital in Denmark.

PHEX
Specificity
100 %
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 %
Rickets, hypophosphatemic, X-linked dominant NGS test.

By Connective Tissue Gene Tests in United States.

PHEX
Specificity
100 %
Genes
100 %
Rickets, hypophosphatemic, X-linked dominant Comprehensive test.

By Connective Tissue Gene Tests in United States.

PHEX
Specificity
100 %
Genes
100 %
Rickets, hypophosphatemic, X-linked dominant Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

PHEX
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 %
X-Linked Hypophosphatemia.

By Bioscientia GmbH Center for Human Genetics in Germany.

PHEX
Specificity
100 %
Genes
100 %
Hypophosphatemic rickets, X-linked.

By Bioscientia GmbH Center for Human Genetics in Germany.

PHEX
Specificity
100 %
Genes
100 %
Hypophosphatemic rickets, X-linked.

By Centogene AG - the Rare Disease Company in Germany.

PHEX
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 %
Single gene testing PHEX.

By CeGaT GmbH in Germany.

PHEX
Specificity
100 %
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.

By Praxis fuer Humangenetik Wien in Austria.

PHEX
Specificity
100 %
Genes
100 %
Hypophosphatemic Rickets.

By MedGene in Slovakia.

PHEX
Specificity
100 %
Genes
100 %
Hypophosphatemic rickets, X-linked: PHEX gene sequence analysis.

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

PHEX
Specificity
100 %
Genes
100 %
Familial hypophosphatemic rickets: deletions-duplications analysis (MLPA) PHEX and FGF23 genes..

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

PHEX, FGF23
Specificity
50 %
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 %
PHEX.

By Fulgent Genetics Fulgent Genetics in United States.

PHEX
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 %
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 %
X-linked hypophosphatemia.

By Bioarray in Spain.

PHEX
Specificity
100 %
Genes
100 %
HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS).

By Laboratorio de Genetica Clinica SL in Spain.

PHEX
Specificity
100 %
Genes
100 %
HYPOPHOSPHATEMIC RICKETS X LINKED.

By Laboratorio de Genetica Clinica SL in Spain.

PHEX
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 %
X-Linked Hypophosphatemia , Sequencing PHEX Gene.

By Reference Laboratory Genetics in Spain.

PHEX
Specificity
100 %
Genes
100 %
X-Linked Hypophosphatemia , Deletions-Duplications (MLPA) PHEX Gene.

By Reference Laboratory Genetics in Spain.

PHEX
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 %
Hypophosphatemia: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PHEX
Specificity
100 %
Genes
100 %
Hypophosphatemia: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PHEX
Specificity
100 %
Genes
100 %

Alternate names

Hypophosphatemic Rickets, X-linked Dominant; Xlhr Is also known as hypophosphatemia, x-linked;xlh, hyp, vitamin d-resistant rickets, x-linked, hypophosphatemic vitamin d-resistant rickets;hpdr;x-linked hypophosphatemic rickets; xlh.



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