MCID: RNL051
MIFTS: 46

Renal Cysts and Diabetes Syndrome

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

Aliases & Classifications for Renal Cysts and Diabetes Syndrome

MalaCards integrated aliases for Renal Cysts and Diabetes Syndrome:

Name: Renal Cysts and Diabetes Syndrome 54 12 50 24 56 71 13 38 69
Mody5 12 50 24 56 71
Rcad 12 50 71
Congenital Anomalies of the Kidney and Urinary Tract with Diabetes 12 71
Atypical Familial Juvenile Hyperuricemic Nephropathy 12 71
Maturity-Onset Diabetes of the Young Type 5 12 71
Familial Hypoplastic Glomerulocystic Kidney 12 71
Cakut with Diabetes 12 71
Atypical Fjhn 12 71
Renal Cysts-Maturity-Onset Diabetes of the Young Syndrome 56
Hyperuricemic Nephropathy, Familial Juvenile, Atypical 50
Glomerulocystic Kidney Disease, Hypoplastic Type 50
Hypoplastic Type Glomerulocystic Kidney Disease 12
Renal Dysfunction-Early-Onset Diabetes Syndrome 56
Glomerulocystic Kidney Disease Hypoplastic Type 71
Maturity-Onset Diabetes of the Young, Type 5 50
Glomerulocystic Kidney, Familial Hypoplastic 50
Familial Hypoplastic, Glomerulocystic Kidney 29
Maturity-Onset Diabetes of the Young Type V 24
Diabetes Mellitus, Mody Type 5 24
Renal-Diabetes Mody5 Syndrome 71
Fjhn Atypical 50
Rcad Syndrome 56
Mody Type 5 50
Hnf1b-Mody 56

Characteristics:

Orphanet epidemiological data:

56
renal cysts and diabetes syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Renal Cysts and Diabetes Syndrome

OMIM : 54
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 17q12 deletion syndrome and glomerulocystic kidney disease with hyperuricemia and isosthenuria, and has symptoms including jaundice, hypospadias and global developmental delay. An important gene associated with Renal Cysts and Diabetes Syndrome is HNF1B (HNF1 Homeobox B), and among its related pathways/superpathways are Mesodermal Commitment Pathway and WNT Signaling. Affiliated tissues include kidney, uterus and pancreas.

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 : 71 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 : 72 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:

id Related Disease Score Top Affiliating Genes
1 17q12 deletion syndrome 11.1
2 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.9
3 primary hypomagnesemia 10.9
4 kidney disease 10.1
5 maturity-onset diabetes of the young 9.7
6 prostate cancer, hereditary, 11 9.6 HNF1B HNF4A
7 morning glory syndrome 9.5 HNF1B HNF4A
8 maturity-onset diabetes of the young 6 9.5 HNF1B HNF4A
9 congenital stationary night blindness 9.4 HNF1B HNF4A
10 hepatic adenoma, somatic 9.2 HNF1B HNF4A

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



Diseases related to Renal Cysts and Diabetes Syndrome

Symptoms & Phenotypes for Renal Cysts and Diabetes Syndrome

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
cortical atrophy
renal cysts
renal hypoplasia
enlarged glomeruli
interstitial fibrosis
more
Genitourinary- External Genitalia Male:
hypospadias

Genitourinary- Internal Genitalia Female:
bicornuate uterus
rudimentary uterus
vagina aplasia

Growth- Weight:
no obesity

Abdomen- Pancreas:
pancreas atrophy
subclinical defect in pancreatic exocrine function

Laboratory- Abnormalities:
proteinuria
glucosuria
hyperuricemia
increased serum creatinine

Endocrine Features:
impaired glucose tolerance
diabetes mellitus

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

Abdomen- Liver:
subclinical abnormal liver function tests

Skeletal- Feet:
gout, early-onset


Clinical features from OMIM:

137920

Human phenotypes related to Renal Cysts and Diabetes Syndrome:

56 32 (show top 50) (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice 56 32 occasional (7.5%) Occasional (29-5%) HP:0000952
2 hypospadias 56 32 occasional (7.5%) Occasional (29-5%) HP:0000047
3 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
4 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 horseshoe kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000085
6 arthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001369
7 renal agenesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000104
8 hyperuricemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002149
9 hepatic steatosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001397
10 bicornuate uterus 56 32 very rare (1%) Occasional (29-5%) HP:0000813
11 diabetes mellitus 56 32 frequent (33%) Frequent (79-30%) HP:0000819
12 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
13 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
14 polydipsia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001959
15 pyloric stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002021
16 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
17 renal fanconi syndrome 56 32 occasional (7.5%) Occasional (29-5%) HP:0001994
18 elevated hepatic transaminases 56 32 frequent (33%) Occasional (29-5%) HP:0002910
19 absent vas deferens 56 32 occasional (7.5%) Occasional (29-5%) HP:0012873
20 mandibular prognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000303
21 glomerulopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0100820
22 multicystic kidney dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000003
23 renal cell carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0005584
24 papillary cystadenoma of the epididymis 56 32 occasional (7.5%) Occasional (29-5%) HP:0009715
25 acute kidney injury 56 32 occasional (7.5%) Occasional (29-5%) HP:0001919
26 aplasia/hypoplasia of the pancreas 56 32 occasional (7.5%) Occasional (29-5%) HP:0100800
27 abnormality of endocrine pancreas physiology 56 32 occasional (7.5%) Occasional (29-5%) HP:0012093
28 abnormality of exocrine pancreas physiology 56 32 occasional (7.5%) Occasional (29-5%) HP:0012092
29 nephrolithiasis 32 HP:0000787
30 proteinuria 32 frequent (33%) HP:0000093
31 glucose intolerance 32 frequent (33%) HP:0000833
32 renal insufficiency 56 Very frequent (99-80%)
33 cerebral cortical atrophy 32 HP:0002120
34 gout 32 frequent (33%) HP:0001997
35 unilateral renal agenesis 32 very rare (1%) HP:0000122
36 renal hypoplasia 32 very rare (1%) HP:0000089
37 ureteropelvic junction obstruction 32 HP:0000074
38 multiple renal cysts 32 HP:0005562
39 epididymal cyst 32 HP:0030424
40 elevated serum creatinine 32 frequent (33%) HP:0003259
41 glycosuria 32 frequent (33%) HP:0003076
42 exocrine pancreatic insufficiency 32 very rare (1%) HP:0001738
43 renal cyst 32 very rare (1%) HP:0000107
44 biliary tract abnormality 32 frequent (33%) HP:0001080
45 abnormality of the liver 32 HP:0001392
46 hypoplasia of the uterus 32 very rare (1%) HP:0000013
47 stage 5 chronic kidney disease 32 frequent (33%) HP:0003774
48 pancreatic hypoplasia 32 very rare (1%) HP:0002594
49 maturity-onset diabetes of the young 32 very rare (1%) HP:0004904
50 abnormality of alkaline phosphatase activity 32 very rare (1%) HP:0004379

Drugs & Therapeutics for Renal Cysts and Diabetes Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Long Term Follow up of a Cohort of Children With TCF2 Mutation:Evolution of Endocrine and Renal Function Recruiting NCT00760331

Search NIH Clinical Center for Renal Cysts and Diabetes Syndrome

Genetic Tests for Renal Cysts and Diabetes Syndrome

Genetic tests related to Renal Cysts and Diabetes Syndrome:

id Genetic test Affiliating Genes
1 Familial Hypoplastic, Glomerulocystic Kidney 29
2 Renal Cysts and Diabetes Syndrome 24 HNF1B

Anatomical Context for Renal Cysts and Diabetes Syndrome

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

39
Kidney, Uterus, Pancreas, Liver, Testes

Publications for Renal Cysts and Diabetes Syndrome

Articles related to Renal Cysts and Diabetes Syndrome:

id Title Authors Year
1
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. ( 21163139 )
2010
2
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. ( 15085338 )
2004
3
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. ( 15496559 )
2004
4
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement. ( 12148114 )
2002

Variations for Renal Cysts and Diabetes Syndrome

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

71 (show all 23)
id Symbol AA change Variation ID SNP ID
1 HNF1B p.Ser36Phe VAR_046012 rs544890850
2 HNF1B p.Val61Gly VAR_046013 rs147816724
3 HNF1B p.Gly76Cys VAR_046014 rs144425830
4 HNF1B p.Val110Gly VAR_046015
5 HNF1B p.Arg112Pro VAR_046016
6 HNF1B p.Gln136Glu VAR_046017
7 HNF1B p.Ser148Leu VAR_046018
8 HNF1B p.Ser148Trp VAR_046019 rs121918674
9 HNF1B p.Ser151Pro VAR_046020
10 HNF1B p.His153Asn VAR_046021
11 HNF1B p.Lys156Glu VAR_046022
12 HNF1B p.Lys164Gln VAR_046023
13 HNF1B p.Arg165His VAR_046024 rs121918675
14 HNF1B p.Arg235Gln VAR_046025
15 HNF1B p.Ala241Thr VAR_046026 rs761415487
16 HNF1B p.Glu260Asp VAR_046027 rs536638039
17 HNF1B p.Arg276Gly VAR_046028
18 HNF1B p.Arg276Gln VAR_046029
19 HNF1B p.Gly285Asp VAR_046030
20 HNF1B p.Arg295Cys VAR_046031
21 HNF1B p.Arg295His VAR_046032
22 HNF1B p.Arg295Pro VAR_046033
23 HNF1B p.Gly370Ser VAR_046034 rs113042313

ClinVar genetic disease variations for Renal Cysts and Diabetes Syndrome:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 HNF1B NM_000458.3(HNF1B): c.529C> T (p.Arg177Ter) single nucleotide variant Pathogenic rs1800575 GRCh37 Chromosome 17, 36099446: 36099446
2 HNF1B HNF1B, 75-BP DEL, NT409 deletion Pathogenic
3 HNF1B HNF1B, 5-BP DEL deletion Pathogenic
4 HNF1B NM_000458.3(HNF1B): c.301G> T (p.Glu101Ter) single nucleotide variant Pathogenic rs121918671 GRCh37 Chromosome 17, 36104575: 36104575
5 HNF1B HNF1B, 1-BP DEL deletion Pathogenic
6 HNF1B NM_000458.3(HNF1B): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs121918672 GRCh37 Chromosome 17, 36091805: 36091805
7 HNF1B HNF1B, 1-BP INS, 1055A insertion Pathogenic
8 HNF1B HNF1B, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
9 HNF1B HNF1B, IVS2DS, G-T, +1 single nucleotide variant Pathogenic
10 HNF1B NM_000458.3(HNF1B): c.443C> G (p.Ser148Trp) single nucleotide variant Pathogenic rs121918674 GRCh37 Chromosome 17, 36099532: 36099532
11 HNF1B HNF1B, EX5DUP duplication Pathogenic
12 HNF1B NM_000458.3(HNF1B): c.494G> A (p.Arg165His) single nucleotide variant Pathogenic rs121918675 GRCh37 Chromosome 17, 36099481: 36099481
13 HNF1B NM_000458.3(HNF1B): c.1006C> T (p.His336Tyr) single nucleotide variant Likely pathogenic rs138986885 GRCh37 Chromosome 17, 36091625: 36091625
14 HNF1B NM_000458.3(HNF1B): c.1325T> C (p.Met442Thr) single nucleotide variant Likely pathogenic rs193922482 GRCh37 Chromosome 17, 36064938: 36064938
15 HNF1B NM_000458.3(HNF1B): c.140C> T (p.Pro47Leu) single nucleotide variant Likely pathogenic rs193922483 GRCh37 Chromosome 17, 36104736: 36104736
16 HNF1B NM_000458.3(HNF1B): c.221T> A (p.Leu74Ter) single nucleotide variant Likely pathogenic rs193922486 GRCh37 Chromosome 17, 36104655: 36104655
17 HNF1B NM_000458.3(HNF1B): c.344G> A (p.Ser115Asn) single nucleotide variant Likely pathogenic rs193922487 GRCh37 Chromosome 17, 36104532: 36104532
18 HNF1B NM_000458.3(HNF1B): c.345-1G> T single nucleotide variant Likely pathogenic rs193922488 GRCh37 Chromosome 17, 36099631: 36099631
19 HNF1B NM_000458.3(HNF1B): c.477delT (p.Met160Terfs) deletion Likely pathogenic rs193922489 GRCh37 Chromosome 17, 36099498: 36099498
20 HNF1B NM_000458.3(HNF1B): c.511T> C (p.Trp171Arg) single nucleotide variant Likely pathogenic rs193922490 GRCh37 Chromosome 17, 36099464: 36099464
21 HNF1B NM_000458.3(HNF1B): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs193922491 GRCh37 Chromosome 17, 36093656: 36093656
22 HNF1B NM_000458.3(HNF1B): c.949G> T (p.Ala317Ser) single nucleotide variant Likely pathogenic rs193922492 GRCh37 Chromosome 17, 36091682: 36091682
23 HNF1B NM_000458.3(HNF1B): c.962A> G (p.Asn321Ser) single nucleotide variant Likely pathogenic rs193922493 GRCh37 Chromosome 17, 36091669: 36091669
24 HNF1B NM_000458.3(HNF1B): c.1132dupC (p.Gln378Profs) duplication Pathogenic rs1057519371 GRCh37 Chromosome 17, 36070585: 36070585

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

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 8.96 HNF1B HNF4A
2 response to glucose GO:0009749 8.62 HNF1B HNF4A

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

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.26 HNF1B HNF4A
2 sequence-specific DNA binding GO:0043565 9.16 HNF1B HNF4A
3 transcription regulatory region DNA binding GO:0044212 8.96 HNF1B HNF4A
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 HNF1B HNF4A

Sources for Renal Cysts and Diabetes Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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