Fanconi Renotubular Syndrome 4 With Maturity-onset Diabetes Of The Young; Frts4

Clinical Features

Top most frequent phenotypes and symptoms related to Fanconi Renotubular Syndrome 4 With Maturity-onset Diabetes Of The Young; Frts4

  • Short stature
  • Hepatomegaly
  • Diabetes mellitus
  • Acidosis
  • Hypoglycemia
  • Elevated hepatic transaminase
  • Proteinuria
  • Metabolic acidosis
  • Nephrocalcinosis
  • Aminoaciduria

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 neonatal onset, and neonatal onset .

Alternative names

Fanconi Renotubular Syndrome 4 With Maturity-onset Diabetes Of The Young; Frts4 Is also known as frts4 with mody.

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 4 With Maturity-onset Diabetes Of The Young; Frts4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Monogenic Diabetes (MODY) Five Gene Evaluation (GCK,HNF1A,HNF1B,HNF4A,IPF1).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK, HNF4A, PDX1
Specificity
20 %
Genes
100 %
HNF4A (MODY1) Sequencing and Deletion Test.

By Athena Diagnostics Inc (United States).

HNF4A
Specificity
100 %
Genes
100 %
Monogenic Diabetes (MODY) Four Gene Evaluation (GCK,HNF1A, HNF1B, HNF4A).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK, HNF4A
Specificity
25 %
Genes
100 %
Maturity-Onset Diabetes of the Young.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Maturity-onset Diabetes of the Young Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

BLK, HNF1A, HNF1B, KLF11, CEL, AKT2, GCK, HNF4A, ABCC8, INS, INSR, PDX1, KCNJ11, NEUROD1, PAX4
Specificity
7 %
Genes
100 %
MODY Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, HNF1A, HNF1B, KLF11, CEL, APPL1, GCK, HNF4A, ABCC8, INS, PDX1, KCNJ11, NEUROD1, PAX4
Specificity
8 %
Genes
100 %
Comprehensive Familial Hyperinsulinism Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC16A1, HNF1A, UCP2, KDM6A, GCK, GLUD1, HADH, HNF4A, ABCC8, INSR, KCNJ11, KMT2D, PGM1, PMM2
Specificity
8 %
Genes
100 %
MODY Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, HNF1A, HNF1B, KLF11, CEL, APPL1, GCK, HNF4A, ABCC8, INS, PDX1, KCNJ11, NEUROD1, PAX4
Specificity
8 %
Genes
100 %

You can get up to 75 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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