Hypophosphatemic Rickets, Autosomal Recessive, 1; Arhr1

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Hypophosphatemic Rickets, Autosomal Recessive, 1; Arhr1 Is also known as hypophosphatemia, autosomal recessive, arhr, arhp.

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.

Hypophosphatemic Rickets, Autosomal Recessive, 1; Arhr1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypophosphatemic Rickets Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX Specificity 10 % Genes 100 %
Hypophosphatemic Rickets Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX Specificity 10 % Genes 100 %
DMP1 Gene Sequencing. By GeneDx (United States). DMP1 Specificity 100 % Genes 100 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States). BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL , (...) View the complete list with 8 more genes Panel complete gene list BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL, LRP5, NOTCH2, P4HB, SERPINF1, PHEX, PLOD2, PLS3, PPIB Close Specificity 4 % Genes 100 %
Autosomal recessive hypophosphatemic rickets (sequence analysis of DMP1 gene). By CGC Genetics (Portugal). DMP1 Specificity 100 % Genes 100 %
Rickets (NGS panel for 10 genes). By CGC Genetics (Portugal). VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX Specificity 10 % Genes 100 %
Autosomal recessive hypophosphatemic bone disease. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). DMP1 Specificity 100 % Genes 100 %
Autosomal recessive hypophosphatemic vitamin D refractory rickets. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). DMP1 Specificity 100 % Genes 100 %

Sources and references

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