RCAD
MCID: RNL051
MIFTS: 55

Renal Cysts and Diabetes Syndrome (RCAD)

Categories: Genetic diseases, Liver 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 56 12 52 73 13 6 37 39 71
Mody5 56 12 52 73
Rcad 56 12 52 73
Congenital Anomalies of the Kidney and Urinary Tract with Diabetes 56 12 73
Maturity-Onset Diabetes of the Young Type 5 12 73 15
Cakut with Diabetes 56 12 73
Hyperuricemic Nephropathy, Familial Juvenile, Atypical 56 52
Atypical Familial Juvenile Hyperuricemic Nephropathy 12 73
Glomerulocystic Kidney Disease, Hypoplastic Type 56 52
Maturity-Onset Diabetes of the Young, Type 5 56 52
Glomerulocystic Kidney, Familial Hypoplastic 56 52
Familial Hypoplastic, Glomerulocystic Kidney 29 6
Familial Hypoplastic Glomerulocystic Kidney 12 73
Atypical Fjhn 12 73
Maturity-Onset Diabetes of the Young, Type 5; Mody5 56
Hepatocyte Nuclear Factor 1 Beta-Associated Disease 52
Hepatocyte Nuclear Factor 1ß -Associated Disease 52
Hypoplastic Type Glomerulocystic Kidney Disease 12
Glomerulocystic Kidney Disease Hypoplastic Type 73
Renal-Diabetes Mody5 Syndrome 73
Renal Cysts and Diabetes 52
Fjhn, Atypical 56
Fjhn Atypical 52
Mody Type 5 52

Characteristics:

OMIM:

56
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 : 56 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 cakut and chromosome 17q12 deletion syndrome. 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 liver, 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.

NIH Rare Diseases : 52 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 : 73 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 : 74 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 95)
# Related Disease Score Top Affiliating Genes
1 cakut 31.5 UMOD LHX1 HNF1B
2 chromosome 17q12 deletion syndrome 30.5 LHX1 HNF1B
3 glucose intolerance 30.0 KCNJ11 HNF1A GCK ABCC8
4 gestational diabetes 29.7 KCNJ11 HNF4A HNF1A GCK ABCC8
5 polycystic kidney disease 4 with or without polycystic liver disease 29.5 UMOD HNF1B HNF1A
6 monogenic diabetes 29.4 PDX1 KCNJ11 HNF4A HNF1B HNF1A GCK
7 hyperglycemia 29.2 PDX1 PAX4 KCNJ11 HNF4A HNF1A GCK
8 maturity-onset diabetes of the young, type 11 29.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 BLK
9 maturity-onset diabetes of the young, type 1 28.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
10 diabetes mellitus, noninsulin-dependent 28.1 PDX1 PCBD1 PAX4 NEUROD1 KCNJ11 HNF4A
11 maturity-onset diabetes of the young, type 3 27.7 PDX1 PCBD1 PAX4 NEUROD1 KLF11 KCNJ11
12 diabetes mellitus 27.7 UMOD PDX1 PAX4 NEUROD1 KLF11 KCNJ11
13 maturity-onset diabetes of the young 25.7 UFM1 UFL1 PDX1 PCBD1 PAX4 NEUROD1
14 hnf1b-related autosomal dominant tubulointerstitial kidney disease 11.4
15 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.3
16 primary hypomagnesemia 11.3
17 type 1 diabetes mellitus 11 10.4 PDX1 NEUROD1
18 anxiety 10.4
19 attention deficit-hyperactivity disorder 10.2
20 obsessive-compulsive disorder 10.2
21 social phobia 10.2
22 generalized anxiety disorder 10.2
23 panic disorder 10.2
24 hyperuricemic nephropathy, familial juvenile, 1 10.2
25 maturity-onset diabetes of the young, type 14 10.2 PDX1 KLF11 HNF1A GCK
26 pyloric stenosis 10.2
27 nephronophthisis 10.2
28 mayer-rokitansky-kuster-hauser syndrome 10.1 LHX1 HNF1B
29 autosomal dominant tubulointerstitial kidney disease 10.1 UMOD HNF1B
30 hyperinsulinemic hypoglycemia, familial, 6 10.1 GCK ABCC8
31 pectus excavatum 10.1
32 duodenal atresia 10.1
33 polycystic kidney disease 2 with or without polycystic liver disease 10.1
34 end stage renal failure 10.1
35 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
36 alacrima, achalasia, and mental retardation syndrome 10.1
37 hyperuricemia 10.1
38 infertility 10.1
39 alcohol dependence 10.1
40 major depressive disorder 10.1
41 lung cancer susceptibility 3 10.1
42 microvascular complications of diabetes 3 10.1
43 microvascular complications of diabetes 4 10.1
44 microvascular complications of diabetes 6 10.1
45 microvascular complications of diabetes 7 10.1
46 mental depression 10.1
47 depression 10.1
48 acute insulin response 10.1 KCNJ11 ABCC8
49 munchausen by proxy 10.0 KCNJ11 GCK ABCC8
50 hyperinsulinemic hypoglycemia, familial, 7 10.0 KCNJ11 GCK ABCC8

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

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 CDH4 CDK5RAP3 DDRGK1 GCK HNF1A HNF4A
2 growth/size/body region MP:0005378 10.17 CDK5RAP3 DDRGK1 GCK HNF1A HNF1B HNF4A
3 homeostasis/metabolism MP:0005376 10.13 ABCC8 CDK5RAP3 GCK HNF1A HNF1B HNF4A
4 endocrine/exocrine gland MP:0005379 10.11 ABCC8 BLK CDK5RAP3 GCK HNF1A HNF1B
5 mortality/aging MP:0010768 9.77 CDK5RAP3 DDRGK1 GCK HNF1A HNF1B HNF4A
6 liver/biliary system MP:0005370 9.76 CDK5RAP3 DDRGK1 GCK HNF1A HNF1B HNF4A
7 renal/urinary system MP:0005367 9.28 CDH4 GCK HNF1A HNF1B LHX1 NEUROD1

Drugs & Therapeutics for Renal Cysts and Diabetes Syndrome

Search Clinical Trials , 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:

40
Kidney, Uterus, Liver, Pancreas, Testes, T Cells, Lung

Publications for Renal Cysts and Diabetes Syndrome

Articles related to Renal Cysts and Diabetes Syndrome:

(show top 50) (show all 102)
# Title Authors PMID Year
1
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. 61 56 6
15930087 2006
2
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. 61 56 6
11085914 2001
3
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. 56 6
15068978 2004
4
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. 56 6
12675839 2003
5
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. 56 6
10484768 1999
6
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. 56 6
9398836 1997
7
Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance. 56 6
2624270 1989
8
Familial hypoplastic glomerulocystic kidney. A new entity? 56 6
7151342 1982
9
Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. 61 6
11562418 2001
10
Maturity-Onset Diabetes of the Young Overview 6
29792621 2018
11
17q12 Recurrent Deletion Syndrome 6
27929632 2016
12
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. 56
21380624 2011
13
HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. 56
20155289 2010
14
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. 56
19844256 2010
15
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. 6
19389850 2009
16
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. 56
17924346 2007
17
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. 6
17440011 2007
18
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. 56
16249435 2005
19
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 6
15649945 2005
20
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. 6
15181075 2004
21
Contributions to the MODY5 phenotype. 56
12638944 2002
22
Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. 6
12161522 2002
23
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 56
11575290 2001
24
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. 6
11317673 2001
25
The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos. 6
10758154 2000
26
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. 6
10720943 2000
27
A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene. 56
9796880 1998
28
Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction. 56
9703339 1998
29
Precocious familial gout with reduced fractional urate clearance and normal purine enzymes. 56
2388995 1990
30
HNF1B-associated clinical phenotypes: the kidney and beyond. 52
26160100 2016
31
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 52
25738250 2015
32
Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review. 52
26340261 2015
33
External transcutaneous ultrasound technique in the equine cricoarytenoideus dorsalis muscle: Assessment of muscle size and echogenicity with resting endoscopy. 61
31736125 2019
34
Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital cystic adenomatoid malformation by chromosomal microarray analysis. 61
31581877 2019
35
Clinical characteristics of HNF1B-related disorders in a Japanese population. 61
31131422 2019
36
Ufl1/RCAD, a Ufm1 E3 ligase, has an intricate connection with ER stress. 61
31129212 2019
37
Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review. 61
30791938 2019
38
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children. 61
30778115 2019
39
Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease. 61
29874928 2019
40
Metabolic Profiling of Multiorgan Samples: Evaluation of MODY5/RCAD Mutant Mice. 61
29873499 2018
41
MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene. 61
28766492 2017
42
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases. 61
28283827 2017
43
[A case of renal cysts and diabetes syndrome presenting with gout as initial symptom]. 61
28355727 2017
44
RCAD/BiP pathway is necessary for the proper synthesis of digestive enzymes and secretory function of the exocrine pancreas. 61
28104585 2017
45
Identification of the First Riboflavin Catabolic Gene Cluster Isolated from Microbacterium maritypicum G10. 61
27590337 2016
46
Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array. 61
26932690 2016
47
Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes. 61
26319241 2016
48
RCAD/Ufl1, a Ufm1 E3 ligase, is essential for hematopoietic stem cell function and murine hematopoiesis. 61
25952549 2015
49
Attenuation of Replication-Competent Adenovirus Serotype 26 Vaccines by Vectorization. 61
26376928 2015
50
A cadherin switch underlies malignancy in high-grade gliomas. 61
24858041 2015

Variations for Renal Cysts and Diabetes Syndrome

ClinVar genetic disease variations for Renal Cysts and Diabetes Syndrome:

6 (show top 50) (show all 262) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNF1B NM_000458.4(HNF1B):c.1132dup (p.Gln378fs)duplication Pathogenic 224334 rs1057519371 17:36070584-36070585 17:37710576-37710577
2 HNF1B NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)SNV Pathogenic 12635 rs1800575 17:36099446-36099446 17:37739455-37739455
3 HNF1B HNF1B, 75-BP DEL, NT409deletion Pathogenic 12636
4 HNF1B HNF1B, 5-BP DELdeletion Pathogenic 12637
5 HNF1B NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter)SNV Pathogenic 12638 rs121918671 17:36104575-36104575 17:37744584-37744584
6 HNF1B HNF1B, 1-BP DELdeletion Pathogenic 12639
7 HNF1B NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)SNV Pathogenic 12640 rs121918672 17:36091805-36091805 17:37731814-37731814
8 HNF1B NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)SNV Pathogenic 12641 rs121918673 17:36061127-36061127 17:37701122-37701122
9 HNF1B NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter)duplication Pathogenic 12642 rs1568645768 17:36070661-36070662 17:37710653-37710654
10 HNF1B NM_000458.4(HNF1B):c.544+1G>ASNV Pathogenic 12643 rs1568670479 17:36099430-36099430 17:37739439-37739439
11 HNF1B NM_000458.4(HNF1B):c.544+1G>TSNV Pathogenic 12644 rs1568670479 17:36099430-36099430 17:37739439-37739439
12 HNF1B NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)SNV Pathogenic 12645 rs121918674 17:36099532-36099532 17:37739541-37739541
13 HNF1B HNF1B, EX5DUPduplication Pathogenic 12646
14 HNF1B NM_000458.4(HNF1B):c.46del (p.Leu16fs)deletion Pathogenic 12648 rs587776771 17:36104830-36104830 17:37744839-37744839
15 HNF1B NM_000458.4(HNF1B):c.809+1G>TSNV Pathogenic 280497 rs1555830002 17:36093549-36093549 17:37733556-37733556
16 HNF1B NM_000458.4(HNF1B):c.406dup (p.Gln136fs)duplication Pathogenic 280653 rs886041820 17:36099568-36099569 17:37739577-37739578
17 HNF1B NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)SNV Pathogenic 372381 rs1057517744 17:36099434-36099434 17:37739443-37739443
18 HNF1B NM_000458.4(HNF1B):c.230_233del (p.Asp77fs)deletion Pathogenic 446150 rs1555833071 17:36104643-36104646 17:37744652-37744655
19 HNF1B NM_000458.4(HNF1B):c.344+1G>ASNV Pathogenic 447512 rs1555832998 17:36104531-36104531 17:37744540-37744540
20 HNF1B NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer)deletion Pathogenic 522424 rs1555833144 17:36104755-36104755 17:37744764-37744764
21 HNF1B NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer)deletion Pathogenic 586803 rs1568665590 17:36093570-36093570 17:37733577-37733577
22 HNF1B NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs)duplication Pathogenic 586802 rs1568665905 17:36093723-36093724 17:37733730-37733731
23 HNF1B NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)SNV Pathogenic 586801 rs1568670481 17:36099431-36099431 17:37739440-37739440
24 HNF1B NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter)SNV Pathogenic 586799 rs1568670702 17:36099536-36099536 17:37739545-37739545
25 HNF1B NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter)SNV Pathogenic 620126 rs1568670533 17:36099462-36099462 17:37739471-37739471
26 HNF1B NM_000458.4(HNF1B):c.1561dup (p.Gln521fs)duplication Pathogenic 635577 17:36059173-36059174 17:37699167-37699168
27 HNF1B NM_000458.4(HNF1B):c.1517del (p.Gln506fs)deletion Pathogenic 635580 17:36061005-36061005 17:37701000-37701000
28 HNF1B NM_000458.4(HNF1B):c.1429C>T (p.Gln477Ter)SNV Pathogenic 635583 17:36061093-36061093 17:37701088-37701088
29 HNF1B NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs)duplication Pathogenic 635584 17:36061108-36061109 17:37701103-37701104
30 HNF1B NM_000458.4(HNF1B):c.1408C>T (p.Gln470Ter)SNV Pathogenic 635585 17:36061114-36061114 17:37701109-37701109
31 HNF1B NM_000458.4(HNF1B):c.1361_1362AG[1] (p.Ser455fs)short repeat Pathogenic 635586 17:36061158-36061159 17:37701153-37701154
32 HNF1B NM_000458.4(HNF1B):c.1358_1359CA[1] (p.Gln454fs)short repeat Pathogenic 635587 17:36061161-36061162 17:37701156-37701157
33 HNF1B NM_000458.4(HNF1B):c.1360C>T (p.Gln454Ter)SNV Pathogenic 635588 17:36061162-36061162 17:37701157-37701157
34 HNF1B NM_000458.4(HNF1B):c.1235dup (p.Val413fs)duplication Pathogenic 635596 17:36065027-36065028 17:37705020-37705021
35 HNF1B NM_000458.4(HNF1B):c.1118_1147del (p.Ala373_Gln383delinsGlu)deletion Pathogenic 635603 17:36070570-36070599 17:37710562-37710591
36 HNF1B NM_000458.4(HNF1B):c.1119_1147del (p.Met374fs)deletion Pathogenic 635602 17:36070570-36070598 17:37710562-37710590
37 HNF1B NM_000458.4(HNF1B):c.1144C>T (p.Gln382Ter)SNV Pathogenic 635604 17:36070573-36070573 17:37710565-37710565
38 HNF1B NM_000458.4(HNF1B):c.1138del (p.Val380fs)deletion Pathogenic 635605 17:36070579-36070579 17:37710571-37710571
39 HNF1B NM_000458.4(HNF1B):c.1136C>A (p.Ser379Ter)SNV Pathogenic 635606 17:36070581-36070581 17:37710573-37710573
40 HNF1B NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)deletion Pathogenic 635607 17:36070618-36070621 17:37710610-37710613
41 HNF1B NM_000458.4(HNF1B):c.1302del (p.Ile434_Met435insTer)deletion Pathogenic 635592 17:36064961-36064961 17:37704954-37704954
42 HNF1B NM_000458.4(HNF1B):c.1299del (p.Ile434fs)deletion Pathogenic 635593 17:36064964-36064964 17:37704957-37704957
43 HNF1B NM_000458.4(HNF1B):c.1048dup (p.Val350fs)duplication Pathogenic 635609 17:36070668-36070669 17:37710660-37710661
44 HNF1B NM_000458.4(HNF1B):c.1009dup (p.His337fs)duplication Pathogenic 635614 17:36091621-36091622 17:37731630-37731631
45 HNF1B NM_000458.4(HNF1B):c.1006del (p.His336fs)deletion Pathogenic 635616 17:36091625-36091625 17:37731634-37731634
46 HNF1B NM_000458.4(HNF1B):c.1006dup (p.His336fs)duplication Pathogenic 635617 17:36091624-36091625 17:37731633-37731634
47 HNF1B NM_000458.4(HNF1B):c.982_986del (p.Pro328fs)deletion Pathogenic 635618 17:36091645-36091649 17:37731654-37731658
48 HNF1B NM_000458.4(HNF1B):c.983del (p.Pro328fs)deletion Pathogenic 635619 17:36091648-36091648 17:37731657-37731657
49 HNF1B NM_000458.4(HNF1B):c.970_971CA[1] (p.His324fs)short repeat Pathogenic 635620 17:36091658-36091659 17:37731667-37731668
50 HNF1B NM_000458.4(HNF1B):c.967dup (p.Thr323fs)duplication Pathogenic 635621 17:36091663-36091664 17:37731672-37731673

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

73 (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

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 nuclear chromatin GO:0000790 9.23 PDX1 PAX4 NEUROD1 LHX1 KLF11 HNF4A
2 inward rectifying potassium channel GO:0008282 8.96 KCNJ11 ABCC8

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.13 PDX1 NEUROD1 LHX1 HNF4A HNF1B HNF1A
2 cell differentiation GO:0030154 10.12 PDX1 PAX4 NEUROD1 LHX1 HNF4A BLK
3 regulation of transcription by RNA polymerase II GO:0006357 10.09 PDX1 PAX4 KLF11 HNF4A HNF1B HNF1A
4 negative regulation of transcription, DNA-templated GO:0045892 10.04 PDX1 PAX4 LHX1 KLF11 HNF4A
5 positive regulation of transcription, DNA-templated GO:0045893 10.04 PDX1 PCBD1 NEUROD1 LHX1 HNF4A HNF1B
6 negative regulation of apoptotic process GO:0043066 10.03 UFM1 UFL1 PAX4 HNF1B DDRGK1
7 transcription by RNA polymerase II GO:0006366 9.94 PDX1 LHX1 KLF11 HNF1A
8 response to drug GO:0042493 9.93 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
9 anterior/posterior pattern specification GO:0009952 9.83 NEUROD1 LHX1 HNF1B
10 glucose homeostasis GO:0042593 9.83 PDX1 NEUROD1 HNF4A HNF1A GCK
11 response to endoplasmic reticulum stress GO:0034976 9.8 UFM1 UFL1 DDRGK1
12 liver development GO:0001889 9.79 PDX1 HNF1B HNF1A
13 glucose metabolic process GO:0006006 9.77 PDX1 KCNJ11 GCK
14 positive regulation of insulin secretion GO:0032024 9.72 PDX1 GCK BLK
15 insulin secretion GO:0030073 9.71 PDX1 NEUROD1 HNF1B HNF1A
16 cellular glucose homeostasis GO:0001678 9.67 GCK ABCC8
17 hindbrain development GO:0030902 9.66 NEUROD1 HNF1B
18 signal transduction involved in regulation of gene expression GO:0023019 9.66 NEUROD1 HNF4A
19 nitric oxide mediated signal transduction GO:0007263 9.65 PDX1 NEUROD1
20 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.65 UFM1 UFL1 DDRGK1
21 hepatocyte differentiation GO:0070365 9.63 HNF4A HNF1B
22 epithelium development GO:0060429 9.61 LHX1 HNF1B
23 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.6 HNF1B HNF1A
24 mesonephric tubule development GO:0072164 9.58 LHX1 HNF1B
25 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.58 PDX1 NEUROD1
26 mesonephric duct development GO:0072177 9.57 LHX1 HNF1B
27 pronephros development GO:0048793 9.56 LHX1 HNF1B
28 pancreas development GO:0031016 9.56 PDX1 PAX4 HNF1B HNF1A
29 detection of glucose GO:0051594 9.54 PDX1 GCK
30 protein K69-linked ufmylation GO:1990592 9.54 UFM1 UFL1 DDRGK1
31 regulation of pronephros size GO:0035565 9.51 HNF1B HNF1A
32 protein ufmylation GO:0071569 9.5 UFM1 UFL1 CDK5RAP3
33 endocrine pancreas development GO:0031018 9.46 PDX1 PAX4 NEUROD1 HNF1A
34 response to glucose GO:0009749 9.35 PDX1 NEUROD1 HNF4A HNF1B HNF1A
35 regulation of insulin secretion GO:0050796 9.02 NEUROD1 KCNJ11 HNF4A GCK ABCC8

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 9.7 PDX1 NEUROD1 LHX1 KLF11 HNF4A HNF1B
2 transcription regulatory region DNA binding GO:0044212 9.56 KLF11 HNF4A HNF1B HNF1A
3 double-stranded DNA binding GO:0003690 9.54 PAX4 NEUROD1 HNF1A
4 sequence-specific DNA binding GO:0043565 9.5 PDX1 PAX4 NEUROD1 LHX1 HNF4A HNF1B
5 ubiquitin-like protein ligase binding GO:0044389 9.32 DDRGK1 CDK5RAP3
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 PDX1 PAX4 NEUROD1 LHX1 KLF11 HNF4A

Sources for Renal Cysts and Diabetes Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
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50 NDF-RT
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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