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 74 13 6 38 40 72
Mody5 57 12 53 59 74
Rcad 57 12 53 74
Congenital Anomalies of the Kidney and Urinary Tract with Diabetes 57 12 74
Maturity-Onset Diabetes of the Young Type 5 12 74 15
Cakut with Diabetes 57 12 74
Hyperuricemic Nephropathy, Familial Juvenile, Atypical 57 53
Atypical Familial Juvenile Hyperuricemic Nephropathy 12 74
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 74
Atypical Fjhn 12 74
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 74
Renal-Diabetes Mody5 Syndrome 74
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:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111101
OMIM 57 137920
MeSH 44 D003924
MESH via Orphanet 45 C535520
ICD10 via Orphanet 34 E11.2
UMLS via Orphanet 73 C0431693 C2959918
Orphanet 59 ORPHA93111
MedGen 42 C0431693
UMLS 72 C0431693

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 hyperglycemia and monogenic diabetes. 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 : 74 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 : 75 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 67)
# Related Disease Score Top Affiliating Genes
1 hyperglycemia 29.9 PDX1 HNF1A GCK
2 monogenic diabetes 29.8 PDX1 HNF4A HNF1A GCK
3 diabetes mellitus 29.6 PDX1 HNF4A HNF1B HNF1A GCK
4 maturity-onset diabetes of the young, type 1 29.4 PDX1 HNF4A HNF1B HNF1A GCK
5 maturity-onset diabetes of the young, type 3 28.6 PDX1 PCBD1 HNF4A HNF1B HNF1A GCK
6 maturity-onset diabetes of the young 28.5 PDX1 PCBD1 HNF4A HNF1B HNF1A GCK
7 diabetes mellitus, noninsulin-dependent 28.1 PDX1 PCBD1 HNF4A HNF1B HNF1A GCK
8 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.3
9 primary hypomagnesemia 11.3
10 cakut 11.2
11 17q12 deletion syndrome 11.2
12 anxiety 10.4
13 diabetes mellitus, permanent neonatal 10.3
14 hepatocyte nuclear factor 1ß -associated disease 10.2
15 attention deficit-hyperactivity disorder 10.2
16 obsessive-compulsive disorder 10.2
17 social phobia 10.2
18 generalized anxiety disorder 10.2
19 panic disorder 10.2
20 hyperuricemic nephropathy, familial juvenile, 1 10.2
21 glucose intolerance 10.2
22 pyloric stenosis 10.2
23 nephronophthisis 10.2
24 pectus excavatum 10.1
25 polycystic kidney disease 2 with or without polycystic liver disease 10.1
26 end stage renal failure 10.1
27 maturity-onset diabetes of the young, type 14 10.1 HNF1A GCK
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
29 chromosome 17q12 deletion syndrome 10.1
30 alacrima, achalasia, and mental retardation syndrome 10.1
31 gestational diabetes 10.1
32 hyperuricemia 10.1
33 infertility 10.1
34 alcohol dependence 10.1
35 major depressive disorder 10.1
36 lung cancer susceptibility 3 10.1
37 microvascular complications of diabetes 3 10.1
38 microvascular complications of diabetes 4 10.1
39 microvascular complications of diabetes 6 10.1
40 microvascular complications of diabetes 7 10.1
41 mental depression 10.1
42 depression 10.1
43 intestinal atresia 10.0 PDX1 GCK
44 cystic kidney disease 10.0
45 maturity-onset diabetes of the young, type 13 10.0 HNF4A HNF1A GCK
46 aminoaciduria 9.9 HNF4A HNF1A
47 pancreatic agenesis 9.9 PDX1 GCK
48 neonatal diabetes mellitus 9.9 PDX1 HNF1B GCK
49 nephrotic syndrome, type 1 9.9
50 nephrotic syndrome, type 4 9.9

Symptoms & Phenotypes for Renal Cysts and Diabetes Syndrome

Human phenotypes related to Renal Cysts and Diabetes Syndrome:

59 32 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
2 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
3 hyperuricemia 59 32 frequent (33%) Occasional (29-5%) HP:0002149
4 proteinuria 32 frequent (33%) HP:0000093
5 elevated serum creatinine 32 frequent (33%) HP:0003259
6 gout 32 frequent (33%) HP:0001997
7 glycosuria 32 frequent (33%) HP:0003076
8 stage 5 chronic kidney disease 32 frequent (33%) HP:0003774
9 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
10 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
11 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
12 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
13 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
14 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
15 polydipsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001959
16 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
17 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
18 elevated hepatic transaminase 59 32 occasional (7.5%) Occasional (29-5%) HP:0002910
19 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
20 jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0000952
21 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
22 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
23 renal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0005584
24 papillary cystadenoma of the epididymis 59 32 occasional (7.5%) Occasional (29-5%) HP:0009715
25 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
26 acute kidney injury 59 32 occasional (7.5%) Occasional (29-5%) HP:0001919
27 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
28 bicornuate uterus 59 32 very rare (1%) Occasional (29-5%) HP:0000813
29 absent vas deferens 59 32 occasional (7.5%) Occasional (29-5%) HP:0012873
30 renal fanconi syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0001994
31 aplasia/hypoplasia of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0100800
32 abnormality of endocrine pancreas physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012093
33 abnormality of exocrine pancreas physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012092
34 exocrine pancreatic insufficiency 32 very rare (1%) HP:0001738
35 renal hypoplasia 32 very rare (1%) HP:0000089
36 unilateral renal agenesis 32 very rare (1%) HP:0000122
37 hypoplasia of the uterus 32 very rare (1%) HP:0000013
38 renal cyst 32 very rare (1%) HP:0000107
39 pancreatic hypoplasia 32 very rare (1%) HP:0002594
40 multiple glomerular cysts 32 very rare (1%) HP:0100611
41 maturity-onset diabetes of the young 32 very rare (1%) HP:0004904
42 abnormality of alkaline phosphatase activity 32 very rare (1%) HP:0004379
43 renal insufficiency 59 Very frequent (99-80%)
44 cerebral cortical atrophy 32 HP:0002120
45 multiple renal cysts 32 HP:0005562
46 biliary tract abnormality 32 HP:0001080
47 nephrolithiasis 32 HP:0000787
48 ureteropelvic junction obstruction 32 HP:0000074
49 abnormality of the liver 32 HP:0001392
50 reduced sperm motility 32 HP:0012207

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

MGI Mouse Phenotypes related to Renal Cysts and Diabetes Syndrome:

46
# 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

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:

41
Kidney, Uterus, Pancreas, Liver, Testes

Publications for Renal Cysts and Diabetes Syndrome

Articles related to Renal Cysts and Diabetes Syndrome:

(show top 50) (show all 99)
# Title Authors PMID Year
1
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. 38 8 71
15930087 2006
2
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. 38 8 71
11085914 2001
3
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. 8 71
15068978 2004
4
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. 8 71
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. 8 71
10484768 1999
6
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. 8 71
9398836 1997
7
Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance. 8 71
2624270 1989
8
Familial hypoplastic glomerulocystic kidney. A new entity? 8 71
7151342 1982
9
Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. 38 71
11562418 2001
10
Maturity-Onset Diabetes of the Young Overview 71
29792621 2018
11
17q12 Recurrent Deletion Syndrome 71
27929632 2016
12
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 71
24285859 2014
13
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 71
22802087 2012
14
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. 8
21380624 2011
15
HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. 8
20155289 2010
16
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. 8
19844256 2010
17
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. 71
19389850 2009
18
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. 8
17924346 2007
19
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. 71
17440011 2007
20
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. 8
16249435 2005
21
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 71
15649945 2005
22
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. 71
15181075 2004
23
Contributions to the MODY5 phenotype. 8
12638944 2002
24
Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. 71
12161522 2002
25
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 8
11575290 2001
26
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. 71
11317673 2001
27
The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos. 71
10758154 2000
28
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. 71
10720943 2000
29
A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene. 8
9796880 1998
30
Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction. 8
9703339 1998
31
Precocious familial gout with reduced fractional urate clearance and normal purine enzymes. 8
2388995 1990
32
Clinical characteristics of HNF1B-related disorders in a Japanese population. 38
31131422 2019
33
Ufl1/RCAD, a Ufm1 E3 ligase, has an intricate connection with ER stress. 38
31129212 2019
34
Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review. 38
30791938 2019
35
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children. 38
30778115 2019
36
Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease. 38
29874928 2019
37
Metabolic Profiling of Multiorgan Samples: Evaluation of MODY5/RCAD Mutant Mice. 38
29873499 2018
38
MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene. 38
28766492 2017
39
[A case of renal cysts and diabetes syndrome presenting with gout as initial symptom]. 38
28355727 2017
40
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. 38
28283827 2017
41
RCAD/BiP pathway is necessary for the proper synthesis of digestive enzymes and secretory function of the exocrine pancreas. 38
28104585 2017
42
Identification of the First Riboflavin Catabolic Gene Cluster Isolated from Microbacterium maritypicum G10. 38
27590337 2016
43
Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array. 38
26932690 2016
44
Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes. 38
26319241 2016
45
RCAD/Ufl1, a Ufm1 E3 ligase, is essential for hematopoietic stem cell function and murine hematopoiesis. 38
25952549 2015
46
Attenuation of Replication-Competent Adenovirus Serotype 26 Vaccines by Vectorization. 38
26376928 2015
47
A cadherin switch underlies malignancy in high-grade gliomas. 38
24858041 2015
48
A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update. 38
25700310 2015
49
Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review. 38
25741167 2015
50
Dissecting the roles of E1A and E1B in adenoviral replication and RCAd-enhanced RDAd transduction efficacy on tumor cells. 38
25019940 2014

Variations for Renal Cysts and Diabetes Syndrome

ClinVar genetic disease variations for Renal Cysts and Diabetes Syndrome:

6 (show top 50) (show all 261)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HNF1B NM_000458.4(HNF1B): c.121del (p.Gly40_Val41insTer) deletion Pathogenic rs1555833144 17:36104755-36104755 17:37744764-37744764
2 HNF1B HNF1B, EX5DUP duplication Pathogenic
3 HNF1B NM_000458.4(HNF1B): c.529C> T (p.Arg177Ter) single nucleotide variant Pathogenic rs1800575 17:36099446-36099446 17:37739455-37739455
4 HNF1B HNF1B, 75-BP DEL, NT409 deletion Pathogenic
5 HNF1B HNF1B, 5-BP DEL deletion Pathogenic
6 HNF1B NM_000458.4(HNF1B): c.301G> T (p.Glu101Ter) single nucleotide variant Pathogenic rs121918671 17:36104575-36104575 17:37744584-37744584
7 HNF1B HNF1B, 1-BP DEL deletion Pathogenic
8 HNF1B NM_000458.4(HNF1B): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs121918672 17:36091805-36091805 17:37731814-37731814
9 HNF1B NM_000458.4(HNF1B): c.1395C> G (p.Ser465Arg) single nucleotide variant Pathogenic rs121918673 17:36061127-36061127 17:37701122-37701122
10 HNF1B NM_000458.4(HNF1B): c.1055dup (p.Tyr352Ter) duplication Pathogenic 17:36070662-36070662 17:37710654-37710654
11 HNF1B NM_000458.4(HNF1B): c.544+1G> A single nucleotide variant Pathogenic 17:36099430-36099430 17:37739439-37739439
12 HNF1B NM_000458.4(HNF1B): c.544+1G> T single nucleotide variant Pathogenic 17:36099430-36099430 17:37739439-37739439
13 HNF1B NM_000458.4(HNF1B): c.443C> G (p.Ser148Trp) single nucleotide variant Pathogenic rs121918674 17:36099532-36099532 17:37739541-37739541
14 HNF1B NM_000458.4(HNF1B): c.541C> T (p.Arg181Ter) single nucleotide variant Pathogenic rs1057517744 17:36099434-36099434 17:37739443-37739443
15 HNF1B NM_000458.4(HNF1B): c.230_233del (p.Asp77fs) deletion Pathogenic rs1555833071 17:36104643-36104646 17:37744652-37744655
16 HNF1B NM_000458.4(HNF1B): c.344+1G> A single nucleotide variant Pathogenic rs1555832998 17:36104531-36104531 17:37744540-37744540
17 HNF1B NM_000458.4(HNF1B): c.46del (p.Leu16fs) deletion Pathogenic rs587776771 17:36104830-36104830 17:37744839-37744839
18 HNF1B NM_000458.4(HNF1B): c.1132dup (p.Gln378fs) duplication Pathogenic rs1057519371 17:36070585-36070585 17:37710577-37710577
19 HNF1B NM_000458.4(HNF1B): c.809+1G> T single nucleotide variant Pathogenic rs1555830002 17:36093549-36093549 17:37733556-37733556
20 HNF1B NM_000458.4(HNF1B): c.406dup (p.Gln136fs) duplication Pathogenic rs886041820 17:36099569-36099569 17:37739578-37739578
21 HNF1B NM_000458.4(HNF1B): c.632_635dup (p.Ser213fs) duplication Pathogenic 17:36093724-36093727 17:37733731-37733734
22 HNF1B NM_000458.4(HNF1B): c.544C> T (p.Gln182Ter) single nucleotide variant Pathogenic 17:36099431-36099431 17:37739440-37739440
23 HNF1B NM_000458.4(HNF1B): c.439C> T (p.Gln147Ter) single nucleotide variant Pathogenic 17:36099536-36099536 17:37739545-37739545
24 HNF1B NM_000458.4(HNF1B): c.513G> A (p.Trp171Ter) single nucleotide variant Pathogenic 17:36099462-36099462 17:37739471-37739471
25 HNF1B NM_000458.4(HNF1B): c.1561dup (p.Gln521fs) duplication Pathogenic 17:36059174-36059174 17:37699174-37699174
26 HNF1B NM_000458.4(HNF1B): c.1517del (p.Gln506fs) deletion Pathogenic 17:36061005-36061005 17:37701000-37701000
27 HNF1B NM_000458.4(HNF1B): c.1429C> T (p.Gln477Ter) single nucleotide variant Pathogenic 17:36061093-36061093 17:37701088-37701088
28 HNF1B NM_000458.4(HNF1B): c.1406_1413dup (p.Val472fs) duplication Pathogenic 17:36061109-36061116 17:37701111-37701118
29 HNF1B NM_000458.4(HNF1B): c.1408C> T (p.Gln470Ter) single nucleotide variant Pathogenic 17:36061114-36061114 17:37701109-37701109
30 HNF1B NM_000458.4(HNF1B): c.1361_1362AG[1] (p.Ser455fs) short repeat Pathogenic 17:36061158-36061159 17:37701153-37701154
31 HNF1B NM_000458.4(HNF1B): c.1358_1359CA[1] (p.Gln454fs) short repeat Pathogenic 17:36061161-36061162 17:37701156-37701157
32 HNF1B NM_000458.4(HNF1B): c.1360C> T (p.Gln454Ter) single nucleotide variant Pathogenic 17:36061162-36061162 17:37701157-37701157
33 HNF1B NM_000458.4(HNF1B): c.1235dup (p.Val413fs) duplication Pathogenic 17:36065028-36065028 17:37705025-37705025
34 HNF1B NM_000458.4(HNF1B): c.1118_1147del (p.Ala373_Gln383delinsGlu) deletion Pathogenic 17:36070570-36070599 17:37710562-37710591
35 HNF1B NM_000458.4(HNF1B): c.1119_1147del (p.Met374fs) deletion Pathogenic 17:36070570-36070598 17:37710564-37710592
36 HNF1B NM_000458.4(HNF1B): c.1144C> T (p.Gln382Ter) single nucleotide variant Pathogenic 17:36070573-36070573 17:37710565-37710565
37 HNF1B NM_000458.4(HNF1B): c.1138del (p.Val380fs) deletion Pathogenic 17:36070579-36070579 17:37710572-37710572
38 HNF1B NM_000458.4(HNF1B): c.1136C> A (p.Ser379Ter) single nucleotide variant Pathogenic 17:36070581-36070581 17:37710573-37710573
39 HNF1B NM_000458.4(HNF1B): c.1096_1099del (p.Ile366fs) deletion Pathogenic 17:36070618-36070621 17:37710612-37710615
40 HNF1B NM_000458.4(HNF1B): c.1302del (p.Ile434_Met435insTer) deletion Pathogenic 17:36064961-36064961 17:37704954-37704954
41 HNF1B NM_000458.4(HNF1B): c.1299del (p.Ile434fs) deletion Pathogenic 17:36064964-36064964 17:37704957-37704957
42 HNF1B NM_000458.4(HNF1B): c.1048dup (p.Val350fs) duplication Pathogenic 17:36070669-36070669 17:37710661-37710661
43 HNF1B NM_000458.4(HNF1B): c.1009dup (p.His337fs) duplication Pathogenic 17:36091622-36091622 17:37731632-37731632
44 HNF1B NM_000458.4(HNF1B): c.1006del (p.His336fs) deletion Pathogenic 17:36091625-36091625 17:37731639-37731639
45 HNF1B NM_000458.4(HNF1B): c.1006dup (p.His336fs) duplication Pathogenic 17:36091625-36091625 17:37731639-37731639
46 HNF1B NM_000458.4(HNF1B): c.982_986del (p.Pro328fs) deletion Pathogenic 17:36091645-36091649 17:37731654-37731658
47 HNF1B NM_000458.4(HNF1B): c.983del (p.Pro328fs) deletion Pathogenic 17:36091648-36091648 17:37731659-37731659
48 HNF1B NM_000458.4(HNF1B): c.970_971CA[1] (p.His324fs) short repeat Pathogenic 17:36091658-36091659 17:37731667-37731668
49 HNF1B NM_000458.4(HNF1B): c.967dup (p.Thr323fs) duplication Pathogenic 17:36091664-36091664 17:37731673-37731673
50 HNF1B NM_000458.4(HNF1B): c.953dup (p.Tyr318Ter) duplication Pathogenic 17:36091678-36091678 17:37731687-37731687

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

74 (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 cytoplasm GO:0005737 9.65 UFM1 UFL1 UBA5 PDX1 PCBD1 HNF4A
2 nucleus GO:0005634 9.32 UFM1 UBA5 PDX1 PCBD1 HNF4A HNF1B

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 PDX1 HNF4A HNF1B HNF1A DDRGK1 CDK5RAP3
2 positive regulation of transcription, DNA-templated GO:0045893 9.92 PDX1 PCBD1 HNF4A HNF1B HNF1A
3 negative regulation of apoptotic process GO:0043066 9.88 UFM1 UFL1 HNF1B DDRGK1
4 liver development GO:0001889 9.72 PDX1 HNF1B HNF1A
5 response to glucose GO:0009749 9.67 HNF4A HNF1B HNF1A
6 glucose homeostasis GO:0042593 9.62 PDX1 HNF4A HNF1A GCK
7 insulin secretion GO:0030073 9.61 PDX1 HNF1B HNF1A
8 regulation of Wnt signaling pathway GO:0030111 9.58 HNF1B HNF1A
9 endocrine pancreas development GO:0031018 9.57 PDX1 HNF1A
10 hepatocyte differentiation GO:0070365 9.56 HNF4A HNF1B
11 response to endoplasmic reticulum stress GO:0034976 9.56 UFM1 UFL1 UBA5 DDRGK1
12 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.54 HNF1B HNF1A
13 pancreas development GO:0031016 9.54 PDX1 HNF1B HNF1A
14 regulation of insulin secretion GO:0050796 9.48 HNF4A GCK
15 detection of glucose GO:0051594 9.46 PDX1 GCK
16 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.46 UFM1 UFL1 UBA5 DDRGK1
17 regulation of pronephros size GO:0035565 9.4 HNF1B HNF1A
18 protein ufmylation GO:0071569 9.26 UFM1 UFL1 UBA5 CDK5RAP3
19 protein K69-linked ufmylation GO:1990592 8.92 UFM1 UFL1 UBA5 DDRGK1

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 PDX1 HNF4A HNF1B HNF1A
2 transcription regulatory region DNA binding GO:0044212 9.13 HNF4A HNF1B HNF1A
3 ubiquitin-like protein ligase binding GO:0044389 8.62 DDRGK1 CDK5RAP3

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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