Fanconi Renotubular Syndrome 2; Frts2

Clinical Features

Top most frequent phenotypes and symptoms related to Fanconi Renotubular Syndrome 2; Frts2

  • Short stature
  • Muscle weakness
  • Pain
  • Renal insufficiency
  • Acidosis
  • Osteopenia
  • Bone pain
  • Hypercalciuria
  • Rickets
  • Hypophosphatemia

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including childhood 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.

Fanconi Renotubular Syndrome 2; Frts2 Recommended genes panels

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

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
SLC34A1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1
Specificity
100 %
Genes
100 %
SLC34A1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1
Specificity
100 %
Genes
100 %
SLC34A1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1
Specificity
100 %
Genes
100 %
SLC34A1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1
Specificity
100 %
Genes
100 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (sequence analysis of SLC34A1 gene).

By CGC Genetics (Portugal).

SLC34A1
Specificity
100 %
Genes
100 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC12A1, SLC26A1, SLC34A1, SLC3A1, SLC7A9, SLC9A3R1, VDR, XDH, SLC2A9, CA2, CASR, SLC22A12, CLCN5, SLC34A3, CLDN16, CLDN19, ADCY10, FAM20A, HOGA1, CYP24A1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %

You can get up to 17 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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