RCAD
MCID: RNL051
MIFTS: 53

Renal Cysts and Diabetes Syndrome (RCAD)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal Cysts and Diabetes Syndrome

MalaCards integrated aliases for Renal Cysts and Diabetes Syndrome:

Name: Renal Cysts and Diabetes Syndrome 58 12 54 60 76 13 39 74
Mody5 58 12 54 60 76
Rcad 58 12 54 76
Congenital Anomalies of the Kidney and Urinary Tract with Diabetes 58 12 76
Maturity-Onset Diabetes of the Young Type 5 12 76 15
Cakut with Diabetes 58 12 76
Hyperuricemic Nephropathy, Familial Juvenile, Atypical 58 54
Atypical Familial Juvenile Hyperuricemic Nephropathy 12 76
Glomerulocystic Kidney Disease, Hypoplastic Type 58 54
Maturity-Onset Diabetes of the Young, Type 5 58 54
Glomerulocystic Kidney, Familial Hypoplastic 58 54
Familial Hypoplastic, Glomerulocystic Kidney 30 6
Familial Hypoplastic Glomerulocystic Kidney 12 76
Atypical Fjhn 12 76
Renal Cysts-Maturity-Onset Diabetes of the Young Syndrome 60
Maturity-Onset Diabetes of the Young, Type 5; Mody5 58
Hypoplastic Type Glomerulocystic Kidney Disease 12
Hnf1b-Related Renal Cysts and Diabetes Syndrome 60
Renal Dysfunction-Early-Onset Diabetes Syndrome 60
Glomerulocystic Kidney Disease Hypoplastic Type 76
Renal Cysts and Diabetes Syndrome ) 41
Renal-Diabetes Mody5 Syndrome 76
Fjhn, Atypical 58
Fjhn Atypical 54
Rcad Syndrome 60
Mody Type 5 54
Hnf1b-Mody 60

Characteristics:

Orphanet epidemiological data:

60
renal cysts and diabetes syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
variable age at onset, range infancy to adult
if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5)


HPO:

33
renal cysts and diabetes syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Renal Cysts and Diabetes Syndrome

OMIM : 58 The 'renal cysts and diabetes syndrome' is an autosomal dominant disorder comprising (1) nondiabetic renal disease resulting from abnormal renal development, and (2) diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelvises, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract, including vaginal aplasia, rudimentary uterus, bicornuate uterus, epididymal cysts, and atresia of the vas deferens (Bingham et al., 2001; Fajans et al., 2001; Bellanne-Chantelot et al., 2004; Edghill et al., 2006). The renal abnormalities seen in the RCAD syndrome are part of a spectrum of malformations known as congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Nakayama et al., 2010). (137920)

MalaCards based summary : Renal Cysts and Diabetes Syndrome, also known as mody5, is related to diabetes mellitus and maturity-onset diabetes of the young, type 1. An important gene associated with Renal Cysts and Diabetes Syndrome is HNF1B (HNF1 Homeobox B), and among its related pathways/superpathways are Developmental Biology and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include kidney, uterus and pancreas, and related phenotypes are multicystic kidney dysplasia and diabetes mellitus

Disease Ontology : 12 A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has material basis in mutation in the HNF1B gene on chromosome 17q12.

UniProtKB/Swiss-Prot : 76 Renal cysts and diabetes syndrome: An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.

Wikipedia : 77 Renal cysts and diabetes syndrome (RCAD), also known as MODY 5, is a form of maturity onset diabetes of... more...

Related Diseases for Renal Cysts and Diabetes Syndrome

Diseases related to Renal Cysts and Diabetes Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus 29.7 GCK HNF1A HNF1B HNF4A PDX1
2 maturity-onset diabetes of the young, type 1 29.6 GCK HNF1A HNF1B HNF4A PDX1
3 maturity-onset diabetes of the young, type 3 29.3 GCK HNF1A HNF1B HNF4A PCBD1 PDX1
4 maturity-onset diabetes of the young 28.9 GCK HNF1A HNF1B HNF4A PCBD1 PDX1
5 17q12 deletion syndrome 11.6
6 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.2
7 primary hypomagnesemia 11.2
8 anxiety 10.4
9 depression 10.4
10 kidney disease 10.2
11 hyperuricemic nephropathy, familial juvenile, 1 10.2
12 maturity-onset diabetes of the young, type 14 10.1 GCK HNF1A
13 infertility 10.1
14 intestinal atresia 10.0 GCK PDX1
15 pectus excavatum 10.0
16 maturity-onset diabetes of the young, type 13 10.0 GCK HNF1A HNF4A
17 pancreatic agenesis 10.0 GCK PDX1
18 neonatal diabetes mellitus 10.0 GCK HNF1B PDX1
19 aminoaciduria 10.0 HNF1A HNF4A
20 hyperglycemia 9.9 GCK HNF1A PDX1
21 monogenic diabetes 9.9 GCK HNF1A HNF4A PDX1
22 maturity-onset diabetes of the young, type 4 9.7 GCK HNF1A HNF1B HNF4A PDX1
23 maturity-onset diabetes of the young, type 2 9.7 GCK HNF1A HNF1B HNF4A PDX1
24 maturity-onset diabetes of the young, type 6 9.7 GCK HNF1A HNF1B HNF4A PDX1
25 maturity-onset diabetes of the young, type 7 9.7 GCK HNF1A HNF1B HNF4A PDX1
26 diabetes mellitus, noninsulin-dependent 9.4 GCK HNF1A HNF1B HNF4A PCBD1 PDX1

Graphical network of the top 20 diseases related to Renal Cysts and Diabetes Syndrome:



Diseases related to Renal Cysts and Diabetes Syndrome

Symptoms & Phenotypes for Renal Cysts and Diabetes Syndrome

Human phenotypes related to Renal Cysts and Diabetes Syndrome:

60 33 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000003
2 diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000819
3 hyperuricemia 60 33 frequent (33%) Occasional (29-5%) HP:0002149
4 proteinuria 33 frequent (33%) HP:0000093
5 elevated serum creatinine 33 frequent (33%) HP:0003259
6 gout 33 frequent (33%) HP:0001997
7 glycosuria 33 frequent (33%) HP:0003076
8 stage 5 chronic kidney disease 33 frequent (33%) HP:0003774
9 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
10 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
11 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
12 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
13 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
14 arthritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001369
15 polydipsia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001959
16 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
17 hepatic steatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001397
18 elevated hepatic transaminase 60 33 occasional (7.5%) Occasional (29-5%) HP:0002910
19 horseshoe kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000085
20 jaundice 60 33 occasional (7.5%) Occasional (29-5%) HP:0000952
21 glomerulopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100820
22 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
23 renal cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0005584
24 papillary cystadenoma of the epididymis 60 33 occasional (7.5%) Occasional (29-5%) HP:0009715
25 pyloric stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002021
26 acute kidney injury 60 33 occasional (7.5%) Occasional (29-5%) HP:0001919
27 renal agenesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000104
28 bicornuate uterus 60 33 very rare (1%) Occasional (29-5%) HP:0000813
29 absent vas deferens 60 33 occasional (7.5%) Occasional (29-5%) HP:0012873
30 renal fanconi syndrome 60 33 occasional (7.5%) Occasional (29-5%) HP:0001994
31 aplasia/hypoplasia of the pancreas 60 33 occasional (7.5%) Occasional (29-5%) HP:0100800
32 abnormality of endocrine pancreas physiology 60 33 occasional (7.5%) Occasional (29-5%) HP:0012093
33 abnormality of exocrine pancreas physiology 60 33 occasional (7.5%) Occasional (29-5%) HP:0012092
34 exocrine pancreatic insufficiency 33 very rare (1%) HP:0001738
35 renal hypoplasia 33 very rare (1%) HP:0000089
36 unilateral renal agenesis 33 very rare (1%) HP:0000122
37 hypoplasia of the uterus 33 very rare (1%) HP:0000013
38 renal cyst 33 very rare (1%) HP:0000107
39 pancreatic hypoplasia 33 very rare (1%) HP:0002594
40 multiple glomerular cysts 33 very rare (1%) HP:0100611
41 maturity-onset diabetes of the young 33 very rare (1%) HP:0004904
42 abnormality of alkaline phosphatase activity 33 very rare (1%) HP:0004379
43 renal insufficiency 60 Very frequent (99-80%)
44 cerebral cortical atrophy 33 HP:0002120
45 multiple renal cysts 33 HP:0005562
46 biliary tract abnormality 33 HP:0001080
47 nephrolithiasis 33 HP:0000787
48 ureteropelvic junction obstruction 33 HP:0000074
49 abnormality of the liver 33 HP:0001392
50 epididymal cyst 33 HP:0030424

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
diabetes mellitus
impaired glucose tolerance

Genitourinary External Genitalia Male:
hypospadias

Genitourinary Internal Genitalia Female:
bicornuate uterus
vagina aplasia
rudimentary uterus

Abdomen Liver:
subclinical abnormal liver function tests

Genitourinary Internal Genitalia Male:
asthenospermia
epididymal cysts
atresia of the vas deferens

Laboratory Abnormalities:
proteinuria
hyperuricemia
glucosuria
increased serum creatinine

Genitourinary Kidneys:
renal hypoplasia
renal cysts
cortical atrophy
congenital anomalies of the kidney and urinary tract (cakut)
chronic renal failure
more
Growth Weight:
no obesity

Abdomen Pancreas:
pancreas atrophy
subclinical defect in pancreatic exocrine function

Skeletal Feet:
gout, early-onset

Clinical features from OMIM:

137920

MGI Mouse Phenotypes related to Renal Cysts and Diabetes Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.76 ACADS DDRGK1 GCK HNF1A HNF1B HNF4A
2 mortality/aging MP:0010768 9.65 ACADS CDK5RAP3 DDRGK1 GCK HNF1A HNF1B
3 renal/urinary system MP:0005367 9.17 ACADS CDH4 GCK HNF1A HNF1B PCBD1

Drugs & Therapeutics for Renal Cysts and Diabetes Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long Term Follow up of a Cohort of Children With TCF2 Mutation:Evolution of Endocrine and Renal Function Active, not recruiting NCT00760331

Search NIH Clinical Center for Renal Cysts and Diabetes Syndrome

Genetic Tests for Renal Cysts and Diabetes Syndrome

Genetic tests related to Renal Cysts and Diabetes Syndrome:

# Genetic test Affiliating Genes
1 Familial Hypoplastic, Glomerulocystic Kidney 30 HNF1B

Anatomical Context for Renal Cysts and Diabetes Syndrome

MalaCards organs/tissues related to Renal Cysts and Diabetes Syndrome:

42
Kidney, Uterus, Pancreas, Testes

Publications for Renal Cysts and Diabetes Syndrome

Articles related to Renal Cysts and Diabetes Syndrome:

(show all 40)
# Title Authors Year
1
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children. ( 30778115 )
2019
2
Metabolic Profiling of Multiorgan Samples: Evaluation of MODY5/RCAD Mutant Mice. ( 29873499 )
2018
3
A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5). ( 29491316 )
2018
4
17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5. ( 30032214 )
2018
5
Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia. ( 26876668 )
2016
6
Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5. ( 27468355 )
2016
7
Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5). ( 25705165 )
2014
8
Pectus excavatum is part of the clinical spectrum of HNF1B MODY5. ( 24652735 )
2014
9
HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred. ( 22641569 )
2013
10
A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5). ( 23926411 )
2012
11
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. ( 21163139 )
2010
12
Expression of HNF-4alpha (MODY1), HNF-1beta (MODY5), and HNF-1alpha (MODY3) proteins in the developing mouse pancreas. ( 17996499 )
2008
13
Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5. ( 17440011 )
2007
14
In vitro and pathological investigations of MODY5 with the R276X-HNF1beta (TCF2) mutation. ( 17878605 )
2007
15
Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. ( 16801329 )
2006
16
Mutant HNF-1alpha and mutant HNF-1beta identified in MODY3 and MODY5 downregulate DPP-IV gene expression in Caco-2 cells. ( 16781669 )
2006
17
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. ( 15649945 )
2005
18
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. ( 15181075 )
2004
19
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. ( 15085338 )
2004
20
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. ( 15496559 )
2004
21
Selective deletion of the Hnf1beta (MODY5) gene in beta-cells leads to altered gene expression and defective insulin release. ( 15142986 )
2004
22
Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees. ( 15660195 )
2004
23
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. ( 15068978 )
2004
24
Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas. ( 14570708 )
2003
25
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. ( 12675839 )
2003
26
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement. ( 12148114 )
2002
27
Contributions to the MODY5 phenotype. ( 12638944 )
2002
28
Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. ( 12161522 )
2002
29
Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus. ( 11317673 )
2001
30
Mutations in the hepatocyte nuclear factor-1beta (MODY5) gene are not a major factor contributing to end-stage renal disease in Japanese people with diabetes mellitus. ( 11206404 )
2001
31
vhnf1, the MODY5 and familial GCKD-associated gene, regulates regional specification of the zebrafish gut, pronephros, and hindbrain. ( 11731484 )
2001
32
Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. ( 11562418 )
2001
33
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. ( 11085914 )
2001
34
Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both. ( 10672455 )
2000
35
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. ( 10720943 )
2000
36
The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos. ( 10758154 )
2000
37
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. ( 10484768 )
1999
38
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. ( 9398836 )
1997
39
Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance. ( 2624270 )
1989
40
Familial hypoplastic glomerulocystic kidney. A new entity? ( 7151342 )
1982

Variations for Renal Cysts and Diabetes Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Renal Cysts and Diabetes Syndrome:

76 (show all 22)
# Symbol AA change Variation ID SNP ID
1 HNF1B p.Ser36Phe VAR_046012 rs544890850
2 HNF1B p.Val61Gly VAR_046013 rs147816724
3 HNF1B p.Val110Gly VAR_046015 rs894213416
4 HNF1B p.Arg112Pro VAR_046016
5 HNF1B p.Gln136Glu VAR_046017
6 HNF1B p.Ser148Leu VAR_046018
7 HNF1B p.Ser148Trp VAR_046019 rs121918674
8 HNF1B p.Ser151Pro VAR_046020
9 HNF1B p.His153Asn VAR_046021
10 HNF1B p.Lys156Glu VAR_046022
11 HNF1B p.Lys164Gln VAR_046023
12 HNF1B p.Arg165His VAR_046024 rs121918675
13 HNF1B p.Arg235Gln VAR_046025
14 HNF1B p.Ala241Thr VAR_046026 rs761415487
15 HNF1B p.Glu260Asp VAR_046027 rs536638039
16 HNF1B p.Arg276Gly VAR_046028
17 HNF1B p.Arg276Gln VAR_046029
18 HNF1B p.Gly285Asp VAR_046030
19 HNF1B p.Arg295Cys VAR_046031
20 HNF1B p.Arg295His VAR_046032 rs886043813
21 HNF1B p.Arg295Pro VAR_046033
22 HNF1B p.Gly370Ser VAR_046034 rs113042313

ClinVar genetic disease variations for Renal Cysts and Diabetes Syndrome:

6 (show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 HNF1B HNF1B, 1-BP DEL deletion Pathogenic
2 HNF1B NM_000458.3(HNF1B): c.529C> T (p.Arg177Ter) single nucleotide variant Pathogenic rs1800575 GRCh37 Chromosome 17, 36099446: 36099446
3 HNF1B NM_000458.3(HNF1B): c.529C> T (p.Arg177Ter) single nucleotide variant Pathogenic rs1800575 GRCh38 Chromosome 17, 37739455: 37739455
4 HNF1B HNF1B, 75-BP DEL, NT409 deletion Pathogenic
5 HNF1B HNF1B, 5-BP DEL deletion Pathogenic
6 HNF1B NM_000458.3(HNF1B): c.301G> T (p.Glu101Ter) single nucleotide variant Pathogenic rs121918671 GRCh37 Chromosome 17, 36104575: 36104575
7 HNF1B NM_000458.3(HNF1B): c.301G> T (p.Glu101Ter) single nucleotide variant Pathogenic rs121918671 GRCh38 Chromosome 17, 37744584: 37744584
8 HNF1B NM_000458.3(HNF1B): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs121918672 GRCh37 Chromosome 17, 36091805: 36091805
9 HNF1B NM_000458.3(HNF1B): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs121918672 GRCh38 Chromosome 17, 37731814: 37731814
10 HNF1B NM_000458.4(HNF1B): c.1055dup (p.Tyr352Terfs) duplication Pathogenic GRCh37 Chromosome 17, 36070662: 36070662
11 HNF1B NM_000458.4(HNF1B): c.1055dup (p.Tyr352Terfs) duplication Pathogenic GRCh38 Chromosome 17, 37710654: 37710654
12 HNF1B NM_000458.4(HNF1B): c.544+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 36099430: 36099430
13 HNF1B NM_000458.4(HNF1B): c.544+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 37739439: 37739439
14 HNF1B NM_000458.4(HNF1B): c.544+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 17, 37739439: 37739439
15 HNF1B NM_000458.4(HNF1B): c.544+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 17, 36099430: 36099430
16 HNF1B NM_000458.3(HNF1B): c.443C> G (p.Ser148Trp) single nucleotide variant Pathogenic rs121918674 GRCh37 Chromosome 17, 36099532: 36099532
17 HNF1B NM_000458.3(HNF1B): c.443C> G (p.Ser148Trp) single nucleotide variant Pathogenic rs121918674 GRCh38 Chromosome 17, 37739541: 37739541
18 HNF1B HNF1B, EX5DUP duplication Pathogenic
19 HNF1B NM_000458.3(HNF1B): c.494G> A (p.Arg165His) single nucleotide variant Pathogenic rs121918675 GRCh37 Chromosome 17, 36099481: 36099481
20 HNF1B NM_000458.3(HNF1B): c.494G> A (p.Arg165His) single nucleotide variant Pathogenic rs121918675 GRCh38 Chromosome 17, 37739490: 37739490
21 HNF1B NM_000458.3(HNF1B): c.-14dupT duplication Uncertain significance rs193922481 GRCh37 Chromosome 17, 36104889: 36104889
22 HNF1B NM_000458.3(HNF1B): c.-14dupT duplication Uncertain significance rs193922481 GRCh38 Chromosome 17, 37744898: 37744898
23 HNF1B NM_000458.3(HNF1B): c.1006C> T (p.His336Tyr) single nucleotide variant Likely pathogenic rs138986885 GRCh37 Chromosome 17, 36091625: 36091625
24 HNF1B NM_000458.3(HNF1B): c.1006C> T (p.His336Tyr) single nucleotide variant Likely pathogenic rs138986885 GRCh38 Chromosome 17, 37731634: 37731634
25 HNF1B NM_000458.3(HNF1B): c.1045+12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs141166864 GRCh37 Chromosome 17, 36091574: 36091574
26 HNF1B NM_000458.3(HNF1B): c.1045+12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs141166864 GRCh38 Chromosome 17, 37731583: 37731583
27 HNF1B NM_000458.3(HNF1B): c.1325T> C (p.Met442Thr) single nucleotide variant Likely pathogenic rs193922482 GRCh37 Chromosome 17, 36064938: 36064938
28 HNF1B NM_000458.3(HNF1B): c.1325T> C (p.Met442Thr) single nucleotide variant Likely pathogenic rs193922482 GRCh38 Chromosome 17, 37704931: 37704931
29 HNF1B NM_000458.3(HNF1B): c.1413C> T (p.Pro471=) single nucleotide variant Benign/Likely benign rs140781855 GRCh37 Chromosome 17, 36061109: 36061109
30 HNF1B NM_000458.3(HNF1B): c.1413C> T (p.Pro471=) single nucleotide variant Benign/Likely benign rs140781855 GRCh38 Chromosome 17, 37701104: 37701104
31 HNF1B NM_000458.3(HNF1B): c.1654-11_1654-9delinsC indel Uncertain significance rs386134268 GRCh37 Chromosome 17, 36047404: 36047406
32 HNF1B NM_000458.3(HNF1B): c.1654-11_1654-9delinsC indel Uncertain significance rs386134268 GRCh38 Chromosome 17, 37687401: 37687403
33 HNF1B NM_000458.3(HNF1B): c.1654-22T> C single nucleotide variant Benign rs3110641 GRCh37 Chromosome 17, 36047417: 36047417
34 HNF1B NM_000458.3(HNF1B): c.1654-22T> C single nucleotide variant Benign rs3110641 GRCh38 Chromosome 17, 37687414: 37687414
35 HNF1B NM_000458.3(HNF1B): c.1654-4G> A single nucleotide variant Uncertain significance rs193922485 GRCh37 Chromosome 17, 36047399: 36047399
36 HNF1B NM_000458.3(HNF1B): c.1654-4G> A single nucleotide variant Uncertain significance rs193922485 GRCh38 Chromosome 17, 37687396: 37687396
37 HNF1B NM_000458.3(HNF1B): c.221T> A (p.Leu74Ter) single nucleotide variant Likely pathogenic rs193922486 GRCh37 Chromosome 17, 36104655: 36104655
38 HNF1B NM_000458.3(HNF1B): c.221T> A (p.Leu74Ter) single nucleotide variant Likely pathogenic rs193922486 GRCh38 Chromosome 17, 37744664: 37744664
39 HNF1B NM_000458.3(HNF1B): c.344G> A (p.Ser115Asn) single nucleotide variant Likely pathogenic rs193922487 GRCh37 Chromosome 17, 36104532: 36104532
40 HNF1B NM_000458.3(HNF1B): c.344G> A (p.Ser115Asn) single nucleotide variant Likely pathogenic rs193922487 GRCh38 Chromosome 17, 37744541: 37744541
41 HNF1B NM_000458.3(HNF1B): c.345-19C> T single nucleotide variant Benign rs59527848 GRCh37 Chromosome 17, 36099649: 36099649
42 HNF1B NM_000458.3(HNF1B): c.345-19C> T single nucleotide variant Benign rs59527848 GRCh38 Chromosome 17, 37739658: 37739658
43 HNF1B NM_000458.3(HNF1B): c.345-1G> T single nucleotide variant Likely pathogenic rs193922488 GRCh37 Chromosome 17, 36099631: 36099631
44 HNF1B NM_000458.3(HNF1B): c.345-1G> T single nucleotide variant Likely pathogenic rs193922488 GRCh38 Chromosome 17, 37739640: 37739640
45 HNF1B NM_000458.3(HNF1B): c.477delT (p.Met160Terfs) deletion Likely pathogenic rs193922489 GRCh37 Chromosome 17, 36099498: 36099498
46 HNF1B NM_000458.3(HNF1B): c.477delT (p.Met160Terfs) deletion Likely pathogenic rs193922489 GRCh38 Chromosome 17, 37739507: 37739507
47 HNF1B NM_000458.3(HNF1B): c.511T> C (p.Trp171Arg) single nucleotide variant Likely pathogenic rs193922490 GRCh37 Chromosome 17, 36099464: 36099464
48 HNF1B NM_000458.3(HNF1B): c.511T> C (p.Trp171Arg) single nucleotide variant Likely pathogenic rs193922490 GRCh38 Chromosome 17, 37739473: 37739473
49 HNF1B NM_000458.3(HNF1B): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs193922491 GRCh37 Chromosome 17, 36093656: 36093656
50 HNF1B NM_000458.3(HNF1B): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs193922491 GRCh38 Chromosome 17, 37733663: 37733663

Expression for Renal Cysts and Diabetes Syndrome

Search GEO for disease gene expression data for Renal Cysts and Diabetes Syndrome.

Pathways for Renal Cysts and Diabetes Syndrome

GO Terms for Renal Cysts and Diabetes Syndrome

Cellular components related to Renal Cysts and Diabetes Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.65 CDK5RAP3 DDRGK1 GCK HNF1A HNF4A PCBD1
2 nucleus GO:0005634 9.32 ACADS CDK5RAP3 GCK HNF1A HNF1B HNF4A

Biological processes related to Renal Cysts and Diabetes Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.99 CDK5RAP3 DDRGK1 HNF1A HNF1B HNF4A PDX1
2 positive regulation of transcription, DNA-templated GO:0045893 9.93 HNF1A HNF1B HNF4A PCBD1 PDX1
3 negative regulation of apoptotic process GO:0043066 9.88 DDRGK1 HNF1B UFL1 UFM1
4 liver development GO:0001889 9.72 HNF1A HNF1B PDX1
5 response to glucose GO:0009749 9.67 HNF1A HNF1B HNF4A
6 regulation of insulin secretion GO:0050796 9.65 GCK HNF1A HNF4A
7 glucose homeostasis GO:0042593 9.62 GCK HNF1A HNF4A PDX1
8 insulin secretion GO:0030073 9.61 HNF1A HNF1B PDX1
9 regulation of Wnt signaling pathway GO:0030111 9.58 HNF1A HNF1B
10 endocrine pancreas development GO:0031018 9.57 HNF1A PDX1
11 hepatocyte differentiation GO:0070365 9.56 HNF1B HNF4A
12 response to endoplasmic reticulum stress GO:0034976 9.56 DDRGK1 UBA5 UFL1 UFM1
13 pancreas development GO:0031016 9.54 HNF1A HNF1B PDX1
14 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.52 HNF1A HNF1B
15 detection of glucose GO:0051594 9.46 GCK PDX1
16 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.46 DDRGK1 UBA5 UFL1 UFM1
17 regulation of pronephros size GO:0035565 9.4 HNF1A HNF1B
18 protein K69-linked ufmylation GO:1990592 9.26 DDRGK1 UBA5 UFL1 UFM1
19 protein ufmylation GO:0071569 8.92 CDK5RAP3 UBA5 UFL1 UFM1

Molecular functions related to Renal Cysts and Diabetes Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.46 HNF1A HNF1B HNF4A PDX1
2 transcription regulatory region DNA binding GO:0044212 9.13 HNF1A HNF1B HNF4A
3 ubiquitin-like protein ligase binding GO:0044389 8.62 CDK5RAP3 DDRGK1

Sources for Renal Cysts and Diabetes Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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38 KEGG
39 LifeMap
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45 MeSH
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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