Renal Cysts And Diabetes Syndrome

Description

Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

Clinical Features

Top most frequent phenotypes and symptoms related to Renal Cysts And Diabetes Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia
  • Abnormality of the dentition
  • Renal insufficiency
  • Hypospadias
  • Diabetes mellitus

And another 58 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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 adult onset .

Alternative names

Renal Cysts And Diabetes Syndrome Is also known as renal dysfunction-early-onset diabetes syndrome, mody5, fjhn, atypical, cakut with diabetes, maturity-onset diabetes of the young, type 5, renal cysts-maturity-onset diabetes of the young syndrome, congenital anomalies of the kidney and urinary tract with diabe.

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.


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Renal Cysts And Diabetes Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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
50 %
Monogenic Diabetes (MODY) Five Gene Evaluation (GCK,HNF1A,HNF1B,HNF4A,IPF1).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK, HNF4A, PDX1
Specificity
40 %
Genes
100 %
HNF1B DNA Sequencing and Deletion Evaluation.

By Athena Diagnostics Inc (United States).

HNF1B
Specificity
100 %
Genes
50 %
TCF2 (MODY5) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

HNF1B
Specificity
100 %
Genes
50 %
TCF2 (MODY5) DNA Sequencing and Deletion Test.

By Athena Diagnostics Inc (United States).

HNF1B
Specificity
100 %
Genes
50 %
Monogenic Diabetes (MODY) Four Gene Evaluation (GCK,HNF1A, HNF1B, HNF4A).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK, HNF4A
Specificity
50 %
Genes
100 %
Monogenic Diabetes (MODY) Three Gene Evaluation (GCK,HNF1A, HNF1B).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK
Specificity
34 %
Genes
50 %
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
8 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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