RCAD
MCID: RNL051
MIFTS: 54

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 57 12 53 59 75 13 38 73
Mody5 57 12 53 59 75
Rcad 57 12 53 75
Congenital Anomalies of the Kidney and Urinary Tract with Diabetes 57 12 75
Maturity-Onset Diabetes of the Young Type 5 12 75 15
Cakut with Diabetes 57 12 75
Hyperuricemic Nephropathy, Familial Juvenile, Atypical 57 53
Atypical Familial Juvenile Hyperuricemic Nephropathy 12 75
Glomerulocystic Kidney Disease, Hypoplastic Type 57 53
Maturity-Onset Diabetes of the Young, Type 5 57 53
Glomerulocystic Kidney, Familial Hypoplastic 57 53
Familial Hypoplastic, Glomerulocystic Kidney 29 6
Familial Hypoplastic Glomerulocystic Kidney 12 75
Atypical Fjhn 12 75
Renal Cysts-Maturity-Onset Diabetes of the Young Syndrome 59
Maturity-Onset Diabetes of the Young, Type 5; Mody5 57
Hypoplastic Type Glomerulocystic Kidney Disease 12
Hnf1b-Related Renal Cysts and Diabetes Syndrome 59
Renal Dysfunction-Early-Onset Diabetes Syndrome 59
Glomerulocystic Kidney Disease Hypoplastic Type 75
Renal Cysts and Diabetes Syndrome ) 40
Renal-Diabetes Mody5 Syndrome 75
Fjhn, Atypical 57
Fjhn Atypical 53
Rcad Syndrome 59
Mody Type 5 53
Hnf1b-Mody 59

Characteristics:

Orphanet epidemiological data:

59
renal cysts and diabetes syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
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:

32
renal cysts and diabetes syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Renal Cysts and Diabetes Syndrome

OMIM : 57 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 3. 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 Glucose / Energy Metabolism. Affiliated tissues include kidney, uterus and pancreas, and related phenotypes are diabetes mellitus and hypothyroidism

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 : 75 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 : 76 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 27)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus 29.7 PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
2 maturity-onset diabetes of the young, type 3 29.3 PDX1 PCBD1 NEUROD1 HNF4A HNF1B HNF1A
3 maturity-onset diabetes of the young 29.0 PDX1 PCBD1 NEUROD1 HNF4A HNF1B HNF1A
4 17q12 deletion syndrome 11.5
5 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.1
6 primary hypomagnesemia 11.1
7 anxiety 10.3
8 depression 10.3
9 kidney disease 10.2
10 hyperuricemic nephropathy, familial juvenile, 1 10.2
11 infertility 10.1
12 maturity-onset diabetes of the young, type 14 10.1 HNF1A GCK
13 intestinal atresia 10.0 PDX1 GCK
14 pancreatic agenesis 10.0 PDX1 GCK
15 pectus excavatum 10.0
16 hyperglycemia 10.0 PDX1 HNF1A GCK
17 aminoaciduria 10.0 HNF4A HNF1A
18 monogenic diabetes 9.9 PDX1 HNF4A HNF1A GCK
19 maturity-onset diabetes of the young, type 4 9.9 PDX1 HNF4A HNF1B HNF1A GCK
20 maturity-onset diabetes of the young, type 2 9.9 PDX1 HNF4A HNF1B HNF1A GCK
21 maturity-onset diabetes of the young, type 13 9.9 NEUROD1 HNF4A HNF1A GCK
22 neonatal diabetes mellitus 9.8 PDX1 NEUROD1 HNF1B GCK
23 diabetes mellitus, insulin-dependent 9.8 PDX1 NEUROD1 HNF1A GCK
24 maturity-onset diabetes of the young, type 6 9.7 PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
25 maturity-onset diabetes of the young, type 7 9.7 PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
26 maturity-onset diabetes of the young, type 1 9.7 HNF1A GCK PDX1 NEUROD1 HNF4A HNF1B
27 diabetes mellitus, noninsulin-dependent 9.5 PDX1 PCBD1 NEUROD1 HNF4A HNF1B HNF1A

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Renal Cysts and Diabetes Syndrome:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
2 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
5 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
6 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
7 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
8 polydipsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001959
9 hyperuricemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002149
10 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
11 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
12 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
13 jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0000952
14 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
15 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
16 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
17 renal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0005584
18 papillary cystadenoma of the epididymis 59 32 occasional (7.5%) Occasional (29-5%) HP:0009715
19 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
20 acute kidney injury 59 32 occasional (7.5%) Occasional (29-5%) HP:0001919
21 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
22 bicornuate uterus 59 32 very rare (1%) Occasional (29-5%) HP:0000813
23 absent vas deferens 59 32 occasional (7.5%) Occasional (29-5%) HP:0012873
24 renal fanconi syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0001994
25 aplasia/hypoplasia of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0100800
26 abnormality of endocrine pancreas physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012093
27 abnormality of exocrine pancreas physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012092
28 renal insufficiency 59 Very frequent (99-80%)
29 proteinuria 32 frequent (33%) HP:0000093
30 glucose intolerance 32 frequent (33%) HP:0000833
31 elevated hepatic transaminases 59 Occasional (29-5%)
32 exocrine pancreatic insufficiency 32 very rare (1%) HP:0001738
33 cerebral cortical atrophy 32 HP:0002120
34 multiple renal cysts 32 HP:0005562
35 biliary tract abnormality 32 HP:0001080
36 renal hypoplasia 32 very rare (1%) HP:0000089
37 elevated serum creatinine 32 frequent (33%) HP:0003259
38 nephrolithiasis 32 HP:0000787
39 gout 32 frequent (33%) HP:0001997
40 ureteropelvic junction obstruction 32 HP:0000074
41 abnormality of the liver 32 HP:0001392
42 unilateral renal agenesis 32 very rare (1%) HP:0000122
43 hypoplasia of the uterus 32 very rare (1%) HP:0000013
44 renal cyst 32 very rare (1%) HP:0000107
45 glycosuria 32 frequent (33%) HP:0003076
46 stage 5 chronic kidney disease 32 frequent (33%) HP:0003774
47 pancreatic hypoplasia 32 very rare (1%) HP:0002594
48 epididymal cyst 32 HP:0030424
49 maturity-onset diabetes of the young 32 very rare (1%) HP:0004904
50 reduced sperm motility 32 HP:0012207

MGI Mouse Phenotypes related to Renal Cysts and Diabetes Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 ACADS CDH4 DDRGK1 HNF1A HNF4A NEUROD1
2 homeostasis/metabolism MP:0005376 9.91 ACADS GCK HNF1A HNF1B HNF4A NEUROD1
3 liver/biliary system MP:0005370 9.76 ACADS DDRGK1 GCK HNF1A HNF1B HNF4A
4 mortality/aging MP:0010768 9.7 ACADS CDK5RAP3 DDRGK1 GCK HNF1A HNF1B
5 renal/urinary system MP:0005367 9.23 ACADS CDH4 GCK HNF1A HNF1B NEUROD1

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 29 HNF1B

Anatomical Context for Renal Cysts and Diabetes Syndrome

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

41
Kidney, Uterus, Pancreas, Liver, Testes

Publications for Renal Cysts and Diabetes Syndrome

Articles related to Renal Cysts and Diabetes Syndrome:

(show all 12)
# Title Authors Year
1
Metabolic Profiling of Multiorgan Samples: Evaluation of MODY5/RCAD Mutant Mice. ( 29873499 )
2018
2
17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5. ( 30032214 )
2018
3
Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia. ( 26876668 )
2016
4
Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5. ( 27468355 )
2016
5
Pectus excavatum is part of the clinical spectrum of HNF1B MODY5. ( 24652735 )
2014
6
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. ( 21163139 )
2010
7
Expression of HNF-4alpha (MODY1), HNF-1beta (MODY5), and HNF-1alpha (MODY3) proteins in the developing mouse pancreas. ( 17996499 )
2008
8
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. ( 15496559 )
2004
9
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. ( 15085338 )
2004
10
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
11
Contributions to the MODY5 phenotype. ( 12638944 )
2002
12
vhnf1, the MODY5 and familial GCKD-associated gene, regulates regional specification of the zebrafish gut, pronephros, and hindbrain. ( 11731484 )
2001

Variations for Renal Cysts and Diabetes Syndrome

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

75 (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 133)
# Gene Variation Type Significance SNP ID Assembly Location
1 HNF1B HNF1B, EX5DUP duplication 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 HNF1B, 1-BP DEL deletion Pathogenic
9 HNF1B NM_000458.3(HNF1B): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs121918672 GRCh37 Chromosome 17, 36091805: 36091805
10 HNF1B NM_000458.3(HNF1B): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs121918672 GRCh38 Chromosome 17, 37731814: 37731814
11 HNF1B HNF1B, 1-BP INS, 1055A insertion Pathogenic
12 HNF1B HNF1B, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
13 HNF1B HNF1B, IVS2DS, G-T, +1 single nucleotide variant Pathogenic
14 HNF1B NM_000458.3(HNF1B): c.443C> G (p.Ser148Trp) single nucleotide variant Pathogenic rs121918674 GRCh37 Chromosome 17, 36099532: 36099532
15 HNF1B NM_000458.3(HNF1B): c.443C> G (p.Ser148Trp) single nucleotide variant Pathogenic rs121918674 GRCh38 Chromosome 17, 37739541: 37739541
16 HNF1B NM_000458.3(HNF1B): c.494G> A (p.Arg165His) single nucleotide variant Pathogenic rs121918675 GRCh37 Chromosome 17, 36099481: 36099481
17 HNF1B NM_000458.3(HNF1B): c.494G> A (p.Arg165His) single nucleotide variant Pathogenic rs121918675 GRCh38 Chromosome 17, 37739490: 37739490
18 HNF1B NM_000458.3(HNF1B): c.244G> A (p.Asp82Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140562402 GRCh37 Chromosome 17, 36104632: 36104632
19 HNF1B NM_000458.3(HNF1B): c.244G> A (p.Asp82Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140562402 GRCh38 Chromosome 17, 37744641: 37744641
20 HNF1B NM_000458.3(HNF1B): c.226G> T (p.Gly76Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144425830 GRCh37 Chromosome 17, 36104650: 36104650
21 HNF1B NM_000458.3(HNF1B): c.226G> T (p.Gly76Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144425830 GRCh38 Chromosome 17, 37744659: 37744659
22 PAX2 NM_003988.4(PAX2): c.511T> C (p.Ser171Pro) single nucleotide variant Uncertain significance rs781489326 GRCh38 Chromosome 10, 100781260: 100781260
23 PAX2 NM_003988.4(PAX2): c.511T> C (p.Ser171Pro) single nucleotide variant Uncertain significance rs781489326 GRCh37 Chromosome 10, 102541017: 102541017
24 HNF1B NM_000458.3(HNF1B): c.1132dupC (p.Gln378Profs) duplication Pathogenic rs1057519371 GRCh37 Chromosome 17, 36070585: 36070585
25 HNF1B NM_000458.3(HNF1B): c.1132dupC (p.Gln378Profs) duplication Pathogenic rs1057519371 GRCh38 Chromosome 17, 37710577: 37710577
26 HNF1B NM_000458.3(HNF1B): c.684C> G (p.Asn228Lys) single nucleotide variant Benign/Likely benign rs202151409 GRCh37 Chromosome 17, 36093675: 36093675
27 HNF1B NM_000458.3(HNF1B): c.684C> G (p.Asn228Lys) single nucleotide variant Benign/Likely benign rs202151409 GRCh38 Chromosome 17, 37733682: 37733682
28 HNF1B NM_000458.3(HNF1B): c.1207A> T (p.Ile403Phe) single nucleotide variant Uncertain significance rs747110790 GRCh37 Chromosome 17, 36065056: 36065056
29 HNF1B NM_000458.3(HNF1B): c.1207A> T (p.Ile403Phe) single nucleotide variant Uncertain significance rs747110790 GRCh38 Chromosome 17, 37705049: 37705049
30 HNF1B NM_000458.3(HNF1B): c.*938A> G single nucleotide variant Likely benign rs574000398 GRCh38 Chromosome 17, 37686434: 37686434
31 HNF1B NM_000458.3(HNF1B): c.*938A> G single nucleotide variant Likely benign rs574000398 GRCh37 Chromosome 17, 36046437: 36046437
32 HNF1B NM_000458.3(HNF1B): c.*924C> G single nucleotide variant Benign rs10962 GRCh38 Chromosome 17, 37686448: 37686448
33 HNF1B NM_000458.3(HNF1B): c.*924C> G single nucleotide variant Benign rs10962 GRCh37 Chromosome 17, 36046451: 36046451
34 HNF1B NM_000458.3(HNF1B): c.*777G> A single nucleotide variant Benign rs17138512 GRCh38 Chromosome 17, 37686595: 37686595
35 HNF1B NM_000458.3(HNF1B): c.*777G> A single nucleotide variant Benign rs17138512 GRCh37 Chromosome 17, 36046598: 36046598
36 HNF1B NM_000458.3(HNF1B): c.*683G> A single nucleotide variant Likely benign rs144234352 GRCh38 Chromosome 17, 37686689: 37686689
37 HNF1B NM_000458.3(HNF1B): c.*683G> A single nucleotide variant Likely benign rs144234352 GRCh37 Chromosome 17, 36046692: 36046692
38 HNF1B NM_000458.3(HNF1B): c.*384A> G single nucleotide variant Benign rs1058166 GRCh38 Chromosome 17, 37686988: 37686988
39 HNF1B NM_000458.3(HNF1B): c.*384A> G single nucleotide variant Benign rs1058166 GRCh37 Chromosome 17, 36046991: 36046991
40 HNF1B NM_000458.3(HNF1B): c.*88A> G single nucleotide variant Uncertain significance rs762266343 GRCh37 Chromosome 17, 36047287: 36047287
41 HNF1B NM_000458.3(HNF1B): c.*88A> G single nucleotide variant Uncertain significance rs762266343 GRCh38 Chromosome 17, 37687284: 37687284
42 HNF1B NM_000458.3(HNF1B): c.*47T> G single nucleotide variant Benign rs8068014 GRCh37 Chromosome 17, 36047328: 36047328
43 HNF1B NM_000458.3(HNF1B): c.*47T> G single nucleotide variant Benign rs8068014 GRCh38 Chromosome 17, 37687325: 37687325
44 HNF1B NM_000458.3(HNF1B): c.444G> A (p.Ser148=) single nucleotide variant Likely benign rs147218489 GRCh37 Chromosome 17, 36099531: 36099531
45 HNF1B NM_000458.3(HNF1B): c.444G> A (p.Ser148=) single nucleotide variant Likely benign rs147218489 GRCh38 Chromosome 17, 37739540: 37739540
46 HNF1B NM_000458.3(HNF1B): c.36C> T (p.Leu12=) single nucleotide variant Uncertain significance rs749370057 GRCh37 Chromosome 17, 36104840: 36104840
47 HNF1B NM_000458.3(HNF1B): c.36C> T (p.Leu12=) single nucleotide variant Uncertain significance rs749370057 GRCh38 Chromosome 17, 37744849: 37744849
48 HNF1B NM_000458.3(HNF1B): c.-31C> G single nucleotide variant Conflicting interpretations of pathogenicity rs771697321 GRCh37 Chromosome 17, 36104906: 36104906
49 HNF1B NM_000458.3(HNF1B): c.-31C> G single nucleotide variant Conflicting interpretations of pathogenicity rs771697321 GRCh38 Chromosome 17, 37744915: 37744915
50 HNF1B NM_000458.3(HNF1B): c.962A> G (p.Asn321Ser) single nucleotide variant Likely pathogenic rs193922493 GRCh38 Chromosome 17, 37731678: 37731678

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 CDH4 GCK HNF1A HNF1B HNF4A NEUROD1
2 12.22 HNF1A HNF4A NEUROD1 PDX1
3 12.1 CDH4 HNF1A HNF1B HNF4A
4 11.78 HNF1B NEUROD1 PDX1
5
Show member pathways
11.73 GCK HNF1A HNF1B HNF4A NEUROD1 PDX1
6
Show member pathways
11.69 CDH4 HNF1A HNF1B HNF4A
7
Show member pathways
11.43 GCK HNF1A HNF1B HNF4A NEUROD1 PDX1
8 11.2 GCK HNF1A HNF4A PDX1
9
Show member pathways
11.08 GCK HNF1A HNF1B HNF4A NEUROD1 PDX1
10 10.22 HNF1A HNF4A

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 9.7 CDK5RAP3 DDRGK1 GCK HNF1A HNF4A NEUROD1
2 nucleus GO:0005634 9.36 ACADS CDK5RAP3 GCK HNF1A HNF1B HNF4A

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.97 HNF1A HNF1B HNF4A NEUROD1 PCBD1 PDX1
2 transcription by RNA polymerase II GO:0006366 9.92 HNF1A HNF4A NEUROD1 PDX1
3 negative regulation of apoptotic process GO:0043066 9.92 DDRGK1 HNF1B UFL1 UFM1
4 liver development GO:0001889 9.74 HNF1A HNF1B PDX1
5 response to endoplasmic reticulum stress GO:0034976 9.73 DDRGK1 UBA5 UFL1 UFM1
6 glucose homeostasis GO:0042593 9.72 GCK HNF1A HNF4A NEUROD1 PDX1
7 response to glucose GO:0009749 9.71 HNF1A HNF1B HNF4A NEUROD1
8 regulation of insulin secretion GO:0050796 9.67 GCK HNF1A HNF4A NEUROD1
9 pancreas development GO:0031016 9.65 HNF1A HNF1B PDX1
10 endocrine pancreas development GO:0031018 9.63 HNF1A NEUROD1 PDX1
11 regulation of Wnt signaling pathway GO:0030111 9.61 HNF1A HNF1B
12 regulation of neuron differentiation GO:0045664 9.61 CDK5RAP3 NEUROD1
13 hindbrain development GO:0030902 9.6 HNF1B NEUROD1
14 signal transduction involved in regulation of gene expression GO:0023019 9.59 HNF4A NEUROD1
15 nitric oxide mediated signal transduction GO:0007263 9.58 NEUROD1 PDX1
16 hepatocyte differentiation GO:0070365 9.58 HNF1B HNF4A
17 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.56 HNF1A HNF1B
18 insulin secretion GO:0030073 9.56 HNF1A HNF1B NEUROD1 PDX1
19 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.55 NEUROD1 PDX1
20 detection of glucose GO:0051594 9.54 GCK PDX1
21 regulation of pronephros size GO:0035565 9.51 HNF1A HNF1B
22 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.46 DDRGK1 UBA5 UFL1 UFM1
23 protein K69-linked ufmylation GO:1990592 9.26 DDRGK1 UBA5 UFL1 UFM1
24 protein ufmylation GO:0071569 8.92 CDK5RAP3 UBA5 UFL1 UFM1
25 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 CDK5RAP3 DDRGK1 HNF1A HNF1B HNF4A NEUROD1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.55 HNF1A HNF1B HNF4A NEUROD1 PDX1
2 transcription regulatory region DNA binding GO:0044212 9.5 HNF1A HNF1B HNF4A
3 RNA polymerase II activating transcription factor binding GO:0001102 9.26 HNF4A NEUROD1
4 sequence-specific DNA binding GO:0043565 9.02 HNF1A HNF1B HNF4A NEUROD1 PDX1
5 ubiquitin-like protein ligase binding GO:0044389 8.96 CDK5RAP3 DDRGK1

Sources for Renal Cysts and Diabetes Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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35 ICD9CM
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37 KEGG
38 LifeMap
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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