RCAD
MCID: RNL051
MIFTS: 57

Renal Cysts and Diabetes Syndrome (RCAD)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Reproductive 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 20 72 29 13 6 37 39 70
Mody5 57 12 20 72
Rcad 57 12 20 72
Congenital Anomalies of the Kidney and Urinary Tract with Diabetes 57 12 72
Maturity-Onset Diabetes of the Young Type 5 12 72 15
Cakut with Diabetes 57 12 72
Hyperuricemic Nephropathy, Familial Juvenile, Atypical 57 20
Atypical Familial Juvenile Hyperuricemic Nephropathy 12 72
Glomerulocystic Kidney Disease, Hypoplastic Type 57 20
Maturity-Onset Diabetes of the Young, Type 5 57 20
Glomerulocystic Kidney, Familial Hypoplastic 57 20
Familial Hypoplastic Glomerulocystic Kidney 12 72
Atypical Fjhn 12 72
Tubulointerstitial Kidney Disease, Autosomal Dominant, 3; Adtkd3 57
Tubulointerstitial Kidney Disease, Autosomal Dominant, 3 57
Maturity-Onset Diabetes of the Young, Type 5; Mody5 57
Hepatocyte Nuclear Factor 1 Beta-Associated Disease 20
Hepatocyte Nuclear Factor 1ß -Associated Disease 20
Hypoplastic Type Glomerulocystic Kidney Disease 12
Glomerulocystic Kidney Disease Hypoplastic Type 72
Renal-Diabetes Mody5 Syndrome 72
Renal Cysts and Diabetes 20
Fjhn, Atypical 57
Fjhn Atypical 20
Mody Type 5 20
Adtkd3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
renal cysts and diabetes syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Renal Cysts and Diabetes Syndrome

OMIM® : 57 Renal cysts and diabetes syndrome (RCAD) is an autosomal dominant multisystemic disorder with significant phenotypic heterogeneity. It is characterized by (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, and horseshoe kidney. Some patients with renal disease have hyperuricemic nephropathy with tubulointerstitial changes on biopsy, consistent with autosomal dominant tubulointerstitial kidney disease (ADTKD). 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; summary by Devuyst et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. For a discussion of genetic heterogeneity of ADTKD and a discussion of the revised nomenclature of these disorders, see ADTKD1 (162000). The renal abnormalities 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) (Updated 05-Apr-2021)

MalaCards based summary : Renal Cysts and Diabetes Syndrome, also known as mody5, is related to gestational diabetes and polycystic kidney disease 4 with or without polycystic liver disease. 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. The drugs Acetaminophen, hydrocodone drug combination and Cola have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and pancreas, and related phenotypes are proteinuria and hyperuricemia

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.

GARD : 20 Hepatocyte nuclear factor 1 Beta-associated diseases (HNF1B-associated diseases) are a group of genetic conditions that affect the kidney as well as other organ systems. The most common symptoms are associated with kidney abnormalities. Other signs and symptoms may include diabetes at a young age, genital abnormalities, and problems with pancreas and liver function. Not everyone who has an HNF1B-associated disease will have the same signs and symptoms. HNF1B-associated disease is caused by a mistake ( mutation ) in the HNF1B gene. This is one of the genes responsible for regulating early development of many of the body's organs. Mutations in HNF1B are inherited in families in an autosomal dominant pattern. HNF1B-associated disease is diagnosed based on the symptoms, family history and genetic testing. Treatment for this condition is based on the symptoms. Kidney disease and kidney failure may be treated with dialysis and kidney transplant. The long-term outlook for people with HNF1B-associated disease depends on the severity of symptoms.

UniProtKB/Swiss-Prot : 72 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 : 73 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 top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 gestational diabetes 30.2 KCNJ11 HNF4A HNF1A GCK
2 polycystic kidney disease 4 with or without polycystic liver disease 30.1 PAX2 HNF1B HNF1A
3 monogenic diabetes 29.9 PDX1 KLF11 KCNJ11 HNF4A HNF1B HNF1A
4 hyperglycemia 29.8 PDX1 PAX4 KCNJ11 HNF4A HNF1B HNF1A
5 glucose intolerance 29.3 NEUROD1 KCNJ11 GCK
6 neonatal diabetes 29.0 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF1B
7 maturity-onset diabetes of the young, type 11 28.6 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
8 type 2 diabetes mellitus 28.5 PDX1 PCBD1 PAX4 NEUROD1 KCNJ11 HNF4A
9 diabetes mellitus 28.4 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
10 maturity-onset diabetes of the young, type 1 28.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
11 maturity-onset diabetes of the young, type 3 27.7 PDX1 PCBD1 PAX4 NEUROD1 KLF11 KCNJ11
12 maturity-onset diabetes of the young 26.9 UFM1 UFL1 PDX1 PCBD1 PAX4 NEUROD1
13 hnf1b-related autosomal dominant tubulointerstitial kidney disease 11.4
14 chromosome 17q12 duplication syndrome 11.2
15 chromosome 17q12 deletion syndrome 11.2
16 primary hypomagnesemia 11.2
17 17q12 recurrent deletion syndrome 11.0
18 cakut 10.9
19 hyperuricemia 10.4
20 renal dysplasia 10.4
21 oligomeganephronia 10.3 PAX2 HNF1B
22 nephrolithiasis, calcium oxalate 10.2
23 acute insulin response 10.2
24 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
25 alacrima, achalasia, and mental retardation syndrome 10.2
26 renal fibrosis 10.2
27 infertility 10.2
28 nephrolithiasis 10.2
29 autosomal dominant tubulointerstitial kidney disease 10.2
30 tubulointerstitial kidney disease, autosomal dominant, 1 10.2
31 fallopian tube endometrioid adenocarcinoma 10.2 PAX2 HNF1B
32 hepatic adenomas, familial 10.2 HNF4A HNF1A
33 type 1 diabetes mellitus 11 10.2 PDX1 NEUROD1 HNF1A
34 cystic kidney disease 10.2
35 meier-gorlin syndrome 8 10.2 UFM1 UFL1
36 prediabetes syndrome 10.2
37 pyloric stenosis 10.2
38 nephronophthisis 10.2
39 pancreatic cystadenoma 10.1 PDX1 NEUROD1 GCK
40 munchausen by proxy 10.1 KCNJ11 GCK
41 factitious disorder 10.1 KCNJ11 GCK
42 mayer-rokitansky-kuster-hauser syndrome 10.1 PAX2 HNF1B
43 hyperinsulinemic hypoglycemia, familial, 7 10.1 KCNJ11 GCK
44 nephrotic syndrome, type 1 10.0
45 nephrotic syndrome, type 4 10.0
46 nephrotic syndrome, type 2 10.0
47 nephrotic syndrome, type 9 10.0
48 renal hypoplasia 10.0
49 polycystic kidney disease 10.0
50 hydronephrosis 10.0

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:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 frequent (33%) HP:0000093
2 hyperuricemia 31 frequent (33%) HP:0002149
3 gout 31 frequent (33%) HP:0001997
4 glycosuria 31 frequent (33%) HP:0003076
5 stage 5 chronic kidney disease 31 frequent (33%) HP:0003774
6 elevated serum creatinine 31 frequent (33%) HP:0003259
7 exocrine pancreatic insufficiency 31 very rare (1%) HP:0001738
8 renal hypoplasia 31 very rare (1%) HP:0000089
9 unilateral renal agenesis 31 very rare (1%) HP:0000122
10 renal cyst 31 very rare (1%) HP:0000107
11 bicornuate uterus 31 very rare (1%) HP:0000813
12 hypoplasia of the uterus 31 very rare (1%) HP:0000013
13 pancreatic hypoplasia 31 very rare (1%) HP:0002594
14 maturity-onset diabetes of the young 31 very rare (1%) HP:0004904
15 multiple glomerular cysts 31 very rare (1%) HP:0100611
16 abnormality of alkaline phosphatase level 31 very rare (1%) HP:0004379
17 diabetes mellitus 31 HP:0000819
18 elevated hepatic transaminase 31 HP:0002910
19 cerebral cortical atrophy 31 HP:0002120
20 nephrolithiasis 31 HP:0000787
21 multiple renal cysts 31 HP:0005562
22 hypospadias 31 HP:0000047
23 abnormality of the liver 31 HP:0001392
24 ureteropelvic junction obstruction 31 HP:0000074
25 biliary tract abnormality 31 HP:0001080
26 epididymal cyst 31 HP:0030424
27 reduced sperm motility 31 HP:0012207
28 impaired glucose tolerance 31 HP:0040270
29 decreased numbers of nephrons 31 HP:0005563
30 atretic vas deferens 31 HP:0030997

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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
congenital anomalies of the kidney and urinary tract (cakut)
chronic renal failure
structural kidney abnormalities
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 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.58 GCK PRKAG2
2 Decreased viability GR00221-A-2 9.58 GCK PRKAG2
3 Decreased viability GR00221-A-3 9.58 GCK
4 Decreased viability GR00221-A-4 9.58 BLK GCK
5 Decreased viability GR00240-S-1 9.58 CDK5RAP3
6 Decreased viability GR00249-S 9.58 HNF1B PARK7 PCBD1
7 Decreased viability GR00381-A-1 9.58 CDK5RAP3
8 Decreased viability GR00386-A-1 9.58 HNF1B HNF4A PAX4
9 Decreased viability GR00402-S-2 9.58 BLK PARK7 UFM1

MGI Mouse Phenotypes related to Renal Cysts and Diabetes Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 CDH4 CDK5RAP3 DDRGK1 GATA4 GCK HNF1A
2 growth/size/body region MP:0005378 10.22 CDH4 CDK5RAP3 DDRGK1 GATA4 GCK HNF1A
3 endocrine/exocrine gland MP:0005379 10.18 BLK CDK5RAP3 GATA4 GCK HNF1A HNF1B
4 homeostasis/metabolism MP:0005376 10.16 BLK CDK5RAP3 GATA4 GCK HNF1A HNF1B
5 liver/biliary system MP:0005370 9.85 CDK5RAP3 DDRGK1 GATA4 GCK HNF1A HNF1B
6 mortality/aging MP:0010768 9.8 CDK5RAP3 DDRGK1 GATA4 GCK HNF1A HNF1B
7 renal/urinary system MP:0005367 9.28 CDH4 GCK HNF1A HNF1B HNF4A NEUROD1

Drugs & Therapeutics for Renal Cysts and Diabetes Syndrome

Drugs for Renal Cysts and Diabetes Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Acetaminophen, hydrocodone drug combination
2 Cola

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study Assessing Risk Factors for Abdominal Pain in Children With Inflammatory Bowel Disease: The ALLAY Study Completed NCT02984059

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 Renal Cysts and Diabetes Syndrome 29 HNF1B

Anatomical Context for Renal Cysts and Diabetes Syndrome

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

40
Kidney, Uterus, Pancreas, Liver

Publications for Renal Cysts and Diabetes Syndrome

Articles related to Renal Cysts and Diabetes Syndrome:

(show top 50) (show all 168)
# Title Authors PMID Year
1
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. 57 6 61
15930087 2006
2
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. 61 6 57
11085914 2001
3
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. 6 57
21380624 2011
4
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. 57 6
16249435 2005
5
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. 57 6
15068978 2004
6
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. 57 6
12675839 2003
7
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. 57 6
10484768 1999
8
Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction. 6 57
9703339 1998
9
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. 57 6
9398836 1997
10
Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance. 57 6
2624270 1989
11
Familial hypoplastic glomerulocystic kidney. A new entity? 57 6
7151342 1982
12
Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes. 61 6
26319241 2016
13
A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update. 6 61
25700310 2015
14
Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience. 61 6
22432796 2012
15
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 61 6
16971658 2006
16
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. 61 6
15085338 2004
17
Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene. 6 61
12460054 2002
18
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. 6 61
12148114 2002
19
Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. 61 6
11562418 2001
20
Autosomal dominant tubulointerstitial kidney disease. 57
31488840 2019
21
The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young. 6
30259503 2019
22
Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance. 6
29927023 2018
23
A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5). 6
29491316 2018
24
Maturity-onset diabetes of the young as a model for elucidating the multifactorial origin of type 2 diabetes mellitus. 6
29406598 2018
25
Diagnostic strategy for inherited hypomagnesemia. 6
28251383 2017
26
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. 6
29207974 2017
27
Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects. 6
28420700 2017
28
A novel mutation in the hepatocyte nuclear factor-1β gene in maturity onset diabetes of the young 5 with multiple renal cysts and pancreas hypogenesis: A case report. 6
28912863 2017
29
Hepatocyte nuclear factor 1β maturity-onset diabetes of the young in a Chinese child presenting with hyperglycemic hyperosmolar state. 6
28593362 2017
30
A case of a novel mutation in HNF1β-related maturity-onset diabetes of the young type 5 with diabetic kidney disease complication in a Chinese family. 6
28502589 2017
31
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 6
27657687 2017
32
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases. 6
27297286 2016
33
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. 6
27234567 2016
34
New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation. 6
26899772 2016
35
Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing. 6
26669242 2016
36
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT. 6
26489027 2016
37
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 6
26489029 2016
38
Establishment of maturity-onset diabetes of the young-induced pluripotent stem cells from a Japanese patient. 6
26417411 2015
39
Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract. 6
25500806 2015
40
Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing. 6
25041077 2015
41
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. 6
25536396 2015
42
Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities. 6
25441779 2015
43
Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene. 6
25754277 2015
44
The HNF1B score is a simple tool to select patients for HNF1B gene analysis. 6
24897035 2014
45
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 6
24429398 2014
46
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. 6
24387224 2014
47
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. 6
24041679 2014
48
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. 6
24382792 2014
49
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model. 6
24476040 2014
50
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. 6
24097065 2013

Variations for Renal Cysts and Diabetes Syndrome

ClinVar genetic disease variations for Renal Cysts and Diabetes Syndrome:

6 (show top 50) (show all 298)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNF1B NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter) SNV Pathogenic 12635 GRCh37: 17:36099446-36099446
GRCh38: 17:37739455-37739455
2 HNF1B HNF1B, 75-BP DEL, NT409 Deletion Pathogenic 12636 GRCh37:
GRCh38:
3 HNF1B HNF1B, 5-BP DEL Deletion Pathogenic 12637 GRCh37:
GRCh38:
4 HNF1B NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter) SNV Pathogenic 12638 GRCh37: 17:36104575-36104575
GRCh38: 17:37744584-37744584
5 HNF1B HNF1B, 1-BP DEL Deletion Pathogenic 12639 GRCh37:
GRCh38:
6 HNF1B NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter) Duplication Pathogenic 12642 GRCh37: 17:36070661-36070662
GRCh38: 17:37710653-37710654
7 HNF1B NM_000458.4(HNF1B):c.544+1G>A SNV Pathogenic 12643 GRCh37: 17:36099430-36099430
GRCh38: 17:37739439-37739439
8 HNF1B NM_000458.4(HNF1B):c.544+1G>T SNV Pathogenic 12644 GRCh37: 17:36099430-36099430
GRCh38: 17:37739439-37739439
9 HNF1B HNF1B, EX5DUP Duplication Pathogenic 12646 GRCh37:
GRCh38:
10 HNF1B NM_000458.4(HNF1B):c.1132dup (p.Gln378fs) Duplication Pathogenic 224334 rs1057519371 GRCh37: 17:36070584-36070585
GRCh38: 17:37710576-37710577
11 HNF1B NM_000458.4(HNF1B):c.61dup (p.Val21fs) Duplication Pathogenic 975063 GRCh37: 17:36104814-36104815
GRCh38: 17:37744823-37744824
12 HNF1B NM_000458.4(HNF1B):c.187del (p.His63fs) Deletion Pathogenic 975066 GRCh37: 17:36104689-36104689
GRCh38: 17:37744698-37744698
13 HNF1B NM_000458.4(HNF1B):c.481A>T (p.Lys161Ter) SNV Pathogenic 975085 GRCh37: 17:36099494-36099494
GRCh38: 17:37739503-37739503
14 HNF1B NM_000458.3:c.1_809del Deletion Pathogenic 635752 GRCh37:
GRCh38:
15 HNF1B NM_000458.3:c.1_1045del Deletion Pathogenic 635751 GRCh37:
GRCh38:
16 HNF1B NM_000458.3:c.1046_*941del Deletion Pathogenic 635750 GRCh37:
GRCh38:
17 HNF1B NM_000458.3:c.545_1045del Deletion Pathogenic 635749 GRCh37:
GRCh38:
18 HNF1B NM_000458.3:c.1046_1674del Deletion Pathogenic 635748 GRCh37:
GRCh38:
19 HNF1B NM_000458.4(HNF1B):c.715_717del (p.Gly239del) Deletion Pathogenic 635737 rs1598842892 GRCh37: 17:36093642-36093644
GRCh38: 17:37733649-37733651
20 HNF1B NM_000458.4(HNF1B):c.3G>A (p.Met1Ile) SNV Pathogenic 635736 GRCh37: 17:36104873-36104873
GRCh38: 17:37744882-37744882
21 HNF1B NM_000458.4(HNF1B):c.3G>T (p.Met1Ile) SNV Pathogenic 635735 GRCh37: 17:36104873-36104873
GRCh38: 17:37744882-37744882
22 HNF1B NM_000458.4(HNF1B):c.18del (p.Ser7fs) Deletion Pathogenic 635734 GRCh37: 17:36104858-36104858
GRCh38: 17:37744867-37744867
23 HNF1B NM_000458.4(HNF1B):c.206_207del (p.His69fs) Deletion Pathogenic 635728 GRCh37: 17:36104669-36104670
GRCh38: 17:37744678-37744679
24 HNF1B NM_000458.4(HNF1B):c.143del (p.Leu48fs) Deletion Pathogenic 635727 GRCh37: 17:36104733-36104733
GRCh38: 17:37744742-37744742
25 HNF1B NM_000458.4(HNF1B):c.207_211del (p.His69fs) Deletion Pathogenic 635726 GRCh37: 17:36104665-36104669
GRCh38: 17:37744674-37744678
26 HNF1B NM_000458.4(HNF1B):c.211_217del (p.Lys71fs) Deletion Pathogenic 635725 GRCh37: 17:36104659-36104665
GRCh38: 17:37744668-37744674
27 HNF1B NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter) SNV Pathogenic 635724 GRCh37: 17:36104644-36104644
GRCh38: 17:37744653-37744653
28 HNF1B NM_000458.4(HNF1B):c.230_233del (p.Asp77fs) Deletion Pathogenic 446150 rs1555833071 GRCh37: 17:36104643-36104646
GRCh38: 17:37744652-37744655
29 HNF1B NM_000458.4(HNF1B):c.46del (p.Leu16fs) Deletion Pathogenic 12648 GRCh37: 17:36104830-36104830
GRCh38: 17:37744839-37744839
30 HNF1B NM_000458.4(HNF1B):c.70del (p.Glu24fs) Deletion Pathogenic 635732 GRCh37: 17:36104806-36104806
GRCh38: 17:37744815-37744815
31 HNF1B NM_000458.4(HNF1B):c.110dup (p.Asn38fs) Duplication Pathogenic 635730 rs1598854747 GRCh37: 17:36104765-36104766
GRCh38: 17:37744774-37744775
32 HNF1B NM_000458.4(HNF1B):c.252del (p.Asp84fs) Deletion Pathogenic 635721 GRCh37: 17:36104624-36104624
GRCh38: 17:37744633-37744633
33 HNF1B NM_000458.4(HNF1B):c.280del (p.Glu94fs) Deletion Pathogenic 635720 GRCh37: 17:36104596-36104596
GRCh38: 17:37744605-37744605
34 HNF1B NM_000458.4(HNF1B):c.281_284dup (p.Gln96fs) Duplication Pathogenic 635719 GRCh37: 17:36104591-36104592
GRCh38: 17:37744600-37744601
35 HNF1B NM_000458.4(HNF1B):c.335G>C (p.Arg112Pro) SNV Pathogenic 635715 GRCh37: 17:36104541-36104541
GRCh38: 17:37744550-37744550
36 HNF1B NM_000458.4(HNF1B):c.324_340del (p.Glu109fs) Deletion Pathogenic 635714 rs1598854261 GRCh37: 17:36104536-36104552
GRCh38: 17:37744545-37744561
37 HNF1B NM_000458.4(HNF1B):c.335_342del (p.Arg112fs) Deletion Pathogenic 635713 GRCh37: 17:36104534-36104541
GRCh38: 17:37744543-37744550
38 HNF1B NM_000458.4(HNF1B):c.344+1G>A SNV Pathogenic 447512 GRCh37: 17:36104531-36104531
GRCh38: 17:37744540-37744540
39 HNF1B NM_000458.4(HNF1B):c.344+2T>C SNV Pathogenic 635712 GRCh37: 17:36104530-36104530
GRCh38: 17:37744539-37744539
40 HNF1B NM_000458.4(HNF1B):c.345-1G>A SNV Pathogenic 635711 GRCh37: 17:36099631-36099631
GRCh38: 17:37739640-37739640
41 HNF1B NM_000458.4(HNF1B):c.353del (p.Pro118fs) Deletion Pathogenic 635710 GRCh37: 17:36099622-36099622
GRCh38: 17:37739631-37739631
42 HNF1B NM_000458.4(HNF1B):c.356G>A (p.Trp119Ter) SNV Pathogenic 635709 GRCh37: 17:36099619-36099619
GRCh38: 17:37739628-37739628
43 HNF1B NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter) SNV Pathogenic 982423 GRCh37: 17:36104635-36104635
GRCh38: 17:37744644-37744644
44 HNF1B NM_000458.4(HNF1B):c.322del (p.Ala108fs) Deletion Pathogenic 635717 GRCh37: 17:36104554-36104554
GRCh38: 17:37744563-37744563
45 HNF1B NM_000458.4(HNF1B):c.374T>C (p.Ile125Thr) SNV Pathogenic 635707 GRCh37: 17:36099601-36099601
GRCh38: 17:37739610-37739610
46 HNF1B NM_000458.4(HNF1B):c.391C>T (p.Gln131Ter) SNV Pathogenic 635706 GRCh37: 17:36099584-36099584
GRCh38: 17:37739593-37739593
47 HNF1B NM_000458.4(HNF1B):c.386_392del (p.Met129fs) Deletion Pathogenic 635705 GRCh37: 17:36099583-36099589
GRCh38: 17:37739592-37739598
48 HNF1B NM_000458.4(HNF1B):c.398A>G (p.Asn133Ser) SNV Pathogenic 635703 GRCh37: 17:36099577-36099577
GRCh38: 17:37739586-37739586
49 HNF1B NM_000458.4(HNF1B):c.406C>G (p.Gln136Glu) SNV Pathogenic 635702 GRCh37: 17:36099569-36099569
GRCh38: 17:37739578-37739578
50 HNF1B NM_000458.4(HNF1B):c.406C>T (p.Gln136Ter) SNV Pathogenic 635701 GRCh37: 17:36099569-36099569
GRCh38: 17:37739578-37739578

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

72 (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

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 PDX1 PAX4 NEUROD1 HNF4A HNF1B HNF1A
2 12.26 PRKAG2 PDX1 NEUROD1 HNF4A HNF1A
3
Show member pathways
12.2 HNF4A HNF1B HNF1A GATA4
4 12.18 HNF4A HNF1B HNF1A CDH4
5 11.92 PDX1 PAX4 PAX2 NEUROD1 HNF1B GATA4
6
Show member pathways
11.83 PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
7
Show member pathways
11.5 PDX1 PAX4 NEUROD1 HNF4A HNF1B HNF1A
8 11.29 NEUROD1 HNF4A GATA4
9 11.2 PDX1 KCNJ11 HNF4A HNF1A GCK
10
Show member pathways
11.15 PDX1 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
11 10.34 HNF4A HNF1A

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 nucleoplasm GO:0005654 9.93 PRKAG2 PDX1 PCBD1 PAX4 PAX2 PARK7
2 nucleus GO:0005634 9.86 UFM1 UFL1 PRKAG2 PDX1 PCBD1 PAX4
3 chromatin GO:0000785 9.32 PDX1 PAX4 PAX2 PARK7 NEUROD1 KLF11

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.23 PDX1 PAX4 PAX2 NEUROD1 KLF11 HNF4A
2 regulation of transcription, DNA-templated GO:0006355 10.2 PDX1 PAX4 PAX2 NEUROD1 HNF4A HNF1A
3 cell differentiation GO:0030154 10.14 PDX1 PAX4 PAX2 NEUROD1 HNF4A BLK
4 negative regulation of transcription, DNA-templated GO:0045892 10.06 PDX1 PAX4 PAX2 KLF11 HNF4A
5 negative regulation of apoptotic process GO:0043066 10.06 UFM1 UFL1 PAX4 PAX2 PARK7 DDRGK1
6 positive regulation of transcription, DNA-templated GO:0045893 10.03 PDX1 PCBD1 PAX2 NEUROD1 HNF4A HNF1B
7 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 PDX1 PAX2 PARK7 NEUROD1 HNF4A HNF1B
8 response to drug GO:0042493 9.93 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B GATA4
9 response to endoplasmic reticulum stress GO:0034976 9.86 UFM1 UFL1 DDRGK1 CDK5RAP3
10 liver development GO:0001889 9.85 PDX1 HNF1B HNF1A CDK5RAP3
11 regulation of insulin secretion GO:0050796 9.84 NEUROD1 KCNJ11 HNF4A GCK
12 response to glucose GO:0009749 9.83 PDX1 NEUROD1 HNF4A HNF1A
13 glucose metabolic process GO:0006006 9.81 PDX1 KCNJ11 GCK
14 anatomical structure development GO:0048856 9.8 PAX4 PAX2 HNF4A
15 cellular response to glucose stimulus GO:0071333 9.8 PAX2 NEUROD1 KCNJ11 GATA4
16 positive regulation of insulin secretion GO:0032024 9.77 PDX1 GCK BLK
17 glucose homeostasis GO:0042593 9.73 PDX1 PARK7 NEUROD1 HNF4A HNF1A GCK
18 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.69 UFM1 UFL1 DDRGK1
19 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.68 PDX1 PARK7
20 signal transduction involved in regulation of gene expression GO:0023019 9.67 NEUROD1 HNF4A
21 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.67 HNF1B HNF1A
22 nitric oxide mediated signal transduction GO:0007263 9.67 PDX1 NEUROD1
23 pancreas development GO:0031016 9.67 PDX1 PAX4 HNF1B HNF1A
24 positive regulation of transcription regulatory region DNA binding GO:2000679 9.65 PARK7 NEUROD1
25 hepatocyte differentiation GO:0070365 9.65 HNF4A HNF1B
26 reticulophagy GO:0061709 9.65 UFM1 UFL1 DDRGK1
27 histone modification GO:0016570 9.64 UFL1 PARK7
28 negative regulation of oxidative stress-induced cell death GO:1903202 9.64 PARK7 GATA4
29 transdifferentiation GO:0060290 9.62 PDX1 GATA4
30 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.62 PDX1 NEUROD1
31 pronephros development GO:0048793 9.61 PAX2 HNF1B
32 negative regulation of IRE1-mediated unfolded protein response GO:1903895 9.61 UFL1 DDRGK1
33 detection of glucose GO:0051594 9.59 PDX1 GCK
34 protein K69-linked ufmylation GO:1990592 9.58 UFM1 UFL1 DDRGK1
35 regulation of pronephros size GO:0035565 9.57 HNF1B HNF1A
36 insulin secretion GO:0030073 9.55 PDX1 PARK7 NEUROD1 HNF1B HNF1A
37 endocrine pancreas development GO:0031018 9.35 PDX1 PAX4 NEUROD1 HNF1B HNF1A
38 protein ufmylation GO:0071569 8.92 UFM1 UFL1 DDRGK1 CDK5RAP3

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 GO:0003677 10.11 PDX1 PAX4 PAX2 NEUROD1 KLF11 HNF4A
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.91 PDX1 PAX4 PAX2 NEUROD1 KLF11 HNF4A
3 sequence-specific DNA binding GO:0043565 9.88 PDX1 NEUROD1 HNF4A HNF1B HNF1A GATA4
4 transcription factor binding GO:0008134 9.8 PDX1 PAX2 PARK7 NEUROD1 HNF1A GATA4
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.77 PAX2 KLF11 HNF4A HNF1A GATA4
6 double-stranded DNA binding GO:0003690 9.73 PAX4 PARK7 NEUROD1 HNF1A
7 sequence-specific double-stranded DNA binding GO:1990837 9.7 PDX1 PAX4 PAX2 NEUROD1 KLF11 HNF4A
8 proximal promoter sequence-specific DNA binding GO:0000987 9.65 PAX2 HNF1B GATA4
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.61 PDX1 PAX4 PAX2 NEUROD1 KLF11 HNF4A
10 DNA-binding transcription factor activity GO:0003700 9.23 PDX1 PAX2 NEUROD1 KLF11 HNF4A HNF1B

Sources for Renal Cysts and Diabetes Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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