Hypophosphatemic Rickets, Autosomal Recessive, 2; Arhr2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Hypophosphatemic Rickets, Autosomal Recessive, 2; Arhr2

ENPP1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Hypophosphatemic Rickets, Autosomal Recessive, 2; Arhr2

Carious teeth
Pulmonic stenosis
Genu valgum
Genu varum
Hyperphosphaturia
Hypophosphatemic rickets
Hypoplasia of teeth

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.

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, 2; Arhr2 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 %
ENPP1. By Institute for Human Genetics University Clinic Freiburg (Germany). ENPP1 Specificity 100 % Genes 100 %
ExomePLUS Electrolyte & Kidney Stone. By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...) View the complete list with 28 more genes Panel complete gene list SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS, CUL3, CYP11B2, CYP24A1, ENPP1, AGXT, FAH, FGF23, GALNT3, GATA3, GCM2, GNA11, GNAS, GRHPR, HPRT1, HSD11B2, AP2S1, KCNJ1, APRT, AQP2, KLHL3, NR3C2, OCRL, ATP6V1B1, ATP6V0A4, PHEX, AVP, AVPR2, PTH Specificity 3 % 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 Specificity 4 % Genes 100 %
ENPP1 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). ENPP1 Specificity 100 % Genes 100 %
ENPP1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ENPP1 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 %

You can get up to 51 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 BARDET-BIEDL SYNDROME 10; BBS10 HAIM-MUNK SYNDROME; HMS THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA DIGITOTALAR DYSMORPHISM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X