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GTR Home > Conditions/Phenotypes > Renal cysts and diabetes syndrome

Renal cysts and diabetes syndrome

Synonyms
FJHN atypical; Familial hypoplastic, glomerulocystic kidney; Glomerulocystic kidney disease, hypoplastic type; Hyperuricemic nephropathy, familial juvenile, atypical; MODY type 5; Maturity-onset diabetes of the young, type 5
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: 17q12 Recurrent Deletion Syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Marissa W Mitchel
Daniel Moreno-De-Luca
Scott M Myers
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Available tests

101 tests are in the database for this condition.

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Clinical tests (101 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADTKD3, FJHN, HNF-1-beta, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, RCAD, T2D, TCF-2, TCF2, VHNF1, HNF1B
    Summary: HNF1 homeobox B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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