Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

RENAL CYSTS AND DIABETES SYNDROME

Synonyms

CAKUT WITH DIABETES

ID

http://purl.bioontology.org/ontology/OMIM/137920

altLabel

CAKUT WITH DIABETES

TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 3

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5

HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICAL

GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPE

RCAD

GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC

FJHN, ATYPICAL

MODY5

ADTKD3

CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES

cui

C0431693

Gene Locus

17q12

Gene Symbol

RCAD

ADTKD3

TCF2

T2D

HNF2

HNF1B

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU018038

http://purl.bioontology.org/ontology/OMIM/MTHU036799

http://purl.bioontology.org/ontology/OMIM/MTHU003880

http://purl.bioontology.org/ontology/OMIM/MTHU009946

http://purl.bioontology.org/ontology/OMIM/MTHU018029

http://purl.bioontology.org/ontology/OMIM/MTHU013357

http://purl.bioontology.org/ontology/OMIM/MTHU018039

http://purl.bioontology.org/ontology/OMIM/MTHU018032

http://purl.bioontology.org/ontology/OMIM/MTHU008708

http://purl.bioontology.org/ontology/OMIM/MTHU010148

http://purl.bioontology.org/ontology/OMIM/MTHU036801

http://purl.bioontology.org/ontology/OMIM/MTHU018047

http://purl.bioontology.org/ontology/OMIM/MTHU018041

http://purl.bioontology.org/ontology/OMIM/MTHU018035

http://purl.bioontology.org/ontology/OMIM/MTHU018040

http://purl.bioontology.org/ontology/OMIM/MTHU018037

http://purl.bioontology.org/ontology/OMIM/MTHU018030

http://purl.bioontology.org/ontology/OMIM/MTHU036800

http://purl.bioontology.org/ontology/OMIM/MTHU041289

http://purl.bioontology.org/ontology/OMIM/MTHU036798

http://purl.bioontology.org/ontology/OMIM/MTHU018048

http://purl.bioontology.org/ontology/OMIM/MTHU018046

http://purl.bioontology.org/ontology/OMIM/MTHU036763

http://purl.bioontology.org/ontology/OMIM/MTHU041290

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU018043

http://purl.bioontology.org/ontology/OMIM/MTHU002761

http://purl.bioontology.org/ontology/OMIM/MTHU018049

http://purl.bioontology.org/ontology/OMIM/MTHU004766

http://purl.bioontology.org/ontology/OMIM/MTHU041209

http://purl.bioontology.org/ontology/OMIM/MTHU018028

http://purl.bioontology.org/ontology/OMIM/MTHU018045

http://purl.bioontology.org/ontology/OMIM/MTHU011898

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU018031

http://purl.bioontology.org/ontology/OMIM/MTHU018036

http://purl.bioontology.org/ontology/OMIM/MTHU002507

http://purl.bioontology.org/ontology/OMIM/MTHU018034

http://purl.bioontology.org/ontology/OMIM/MTHU002640

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

604284

609886

notation

137920

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

RENAL CYSTS AND DIABETES SYNDROME

Scope Statement

If onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (MODY5) [MISCELLANEOUS]

Caused by mutation in the hepatocyte nuclear factor-1-beta gene (TCF2, 189907.0001) [MOLECULAR BASIS]

Variable age at onset, range infancy to adult [MISCELLANEOUS]

Highly variable phenotype [MISCELLANEOUS]

tui

T047

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