Renal Cysts and Diabetes Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RCAD MCID: RNL051 MIFTS: 55	Renal Cysts and Diabetes Syndrome (RCAD) Categories: Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Nephrological diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111101

OMIM ⁵⁶ 137920

MeSH ⁴³ D003924

MedGen ⁴¹ C0431693

UMLS ⁷¹ C0431693

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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...

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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:

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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

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Drugs & Therapeutics for Renal Cysts and Diabetes Syndrome

Search Clinical Trials , NIH Clinical Center for Renal Cysts and Diabetes Syndrome

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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

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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

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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	Edghill EL...Hattersley AT	15930087	2006
2	Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. ⁶¹ ⁵⁶ ⁶	Bingham C...Hattersley AT	11085914	2001
3	Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. ⁵⁶ ⁶	Bellanne-Chantelot C...Timsit J	15068978	2004
4	Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. ⁵⁶ ⁶	Bingham C...Hattersley AT	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	Lindner TH...Sovik O	10484768	1999
6	Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. ⁵⁶ ⁶	Horikawa Y...Bell GI	9398836	1997
7	Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance. ⁵⁶ ⁶	Kaplan BS...Barratt TM	2624270	1989
8	Familial hypoplastic glomerulocystic kidney. A new entity? ⁵⁶ ⁶	Rizzoni G...Mathieu H	7151342	1982
9	Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. ⁶¹ ⁶	Kolatsi-Joannou M...Woolf AS	11562418	2001
10	Maturity-Onset Diabetes of the Young Overview ⁶	Naylor R...del Gaudio D	29792621	2018
11	17q12 Recurrent Deletion Syndrome ⁶	Mitchel MW...Martin CL	27929632	2016
12	HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. ⁵⁶	Thomas R...Gharavi AG	21380624	2011
13	HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. ⁵⁶	Nakayama M...Iijima K	20155289	2010
14	Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. ⁵⁶	Nagamani SC...Cheung SW	19844256	2010
15	HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. ⁶	Adalat S...Bockenhauer D	19389850	2009
16	Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. ⁵⁶	Mefford HC...Bellanne-Chantelot C	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	Carette C...Bellanne-Chantelot C	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	Bellanne-Chantelot C...Timsit J	16249435	2005
19	Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. ⁶	Rebouissou S...Zucman-Rossi J	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	Yorifuji T...Nakahata T	15181075	2004
21	Contributions to the MODY5 phenotype. ⁵⁶	Sovik O...Myhr KM	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	Furuta H...Nanjo K	12161522	2002
23	Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. ⁵⁶	Fajans SS...Polonsky KS	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	Iwasaki N...Iwamoto Y	11317673	2001
25	The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos. ⁶	Wild W...Ryffel GU	10758154	2000
26	Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. ⁶	Bingham C...Hattersley AT	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	Menzel R...Menzel S	9796880	1998
28	Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction. ⁵⁶	Nishigori H...Takeda J	9703339	1998
29	Precocious familial gout with reduced fractional urate clearance and normal purine enzymes. ⁵⁶	Calabrese G...Davies PM	2388995	1990
30	HNF1B-associated clinical phenotypes: the kidney and beyond. ⁵²	Bockenhauer D...Jaureguiberry G	26160100	2016
31	Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. ⁵²	Eckardt KU...Kidney Disease: Improving Global Outcomes	25738250	2015
32	Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review. ⁵²	van der Made CI...de Baaij JH	26340261	2015
33	External transcutaneous ultrasound technique in the equine cricoarytenoideus dorsalis muscle: Assessment of muscle size and echogenicity with resting endoscopy. ⁶¹	Satoh M...Shimizu Y	31736125	2019
34	Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital cystic adenomatoid malformation by chromosomal microarray analysis. ⁶¹	Deng Q...Liao C	31581877	2019
35	Clinical characteristics of HNF1B-related disorders in a Japanese population. ⁶¹	Nagano C...Iijima K	31131422	2019
36	Ufl1/RCAD, a Ufm1 E3 ligase, has an intricate connection with ER stress. ⁶¹	Xie Z...Pan Z	31129212	2019
37	Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review. ⁶¹	Pinon M...Calvo PL	30791938	2019
38	Urinary proteome signature of Renal Cysts and Diabetes syndrome in children. ⁶¹	Ricci P...Zurbig P	30778115	2019
39	Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease. ⁶¹	Seeman T...John U	29874928	2019
40	Metabolic Profiling of Multiorgan Samples: Evaluation of MODY5/RCAD Mutant Mice. ⁶¹	Torell F...Lundstedt T	29873499	2018
41	MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene. ⁶¹	Matsukura H...Yorifuji T	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	Erger F...Zerres K	28283827	2017
43	[A case of renal cysts and diabetes syndrome presenting with gout as initial symptom]. ⁶¹	Wang Q...Wang Q	28355727	2017
44	RCAD/BiP pathway is necessary for the proper synthesis of digestive enzymes and secretory function of the exocrine pancreas. ⁶¹	Miller C...Sabbatini ME	28104585	2017
45	Identification of the First Riboflavin Catabolic Gene Cluster Isolated from Microbacterium maritypicum G10. ⁶¹	Xu H...Begley TP	27590337	2016
46	Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array. ⁶¹	Fu F...Liao C	26932690	2016
47	Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes. ⁶¹	Verhave JC...Nijenhuis T	26319241	2016
48	RCAD/Ufl1, a Ufm1 E3 ligase, is essential for hematopoietic stem cell function and murine hematopoiesis. ⁶¹	Zhang M...Li H	25952549	2015
49	Attenuation of Replication-Competent Adenovirus Serotype 26 Vaccines by Vectorization. ⁶¹	Maxfield LF...Barouch DH	26376928	2015
50	A cadherin switch underlies malignancy in high-grade gliomas. ⁶¹	Appolloni I...Malatesta P	24858041	2015

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Genes for Renal Cysts and Diabetes Syndrome

Genes related to Renal Cysts and Diabetes Syndrome (1 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HNF1B	HNF1 Homeobox B	Protein Coding	1351.56	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9398836 15930087 11085914 (more) 11317673 10720943 10758154 15181075 11562418 7151342 15068978 12161522 10484768 29792621 17440011 2624270 12675839 15649945 19389850 27929632
2	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	7.79	DISEASES inferred ¹⁵
3	GCK	Glucokinase	Protein Coding	7.71	DISEASES inferred ¹⁵
4	HNF1A	HNF1 Homeobox A	Protein Coding	7.6	DISEASES inferred ¹⁵
5	NEUROD1	Neuronal Differentiation 1	Protein Coding	7.58	DISEASES inferred ¹⁵
6	UFL1	UFM1 Specific Ligase 1	Protein Coding	7.43	DISEASES inferred ¹⁵
7	DDRGK1	DDRGK Domain Containing 1	Protein Coding	7.36	DISEASES inferred ¹⁵
8	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	7.34	DISEASES inferred ¹⁵
9	KLF11	Kruppel Like Factor 11	Protein Coding	7.06	DISEASES inferred ¹⁵
10	PAX4	Paired Box 4	Protein Coding	6.89	DISEASES inferred ¹⁵
11	UFM1	Ubiquitin Fold Modifier 1	Protein Coding	6.83	DISEASES inferred ¹⁵
12	CDK5RAP3	CDK5 Regulatory Subunit Associated Protein 3	Protein Coding	6.81	DISEASES inferred ¹⁵
13	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	6.69	DISEASES inferred ¹⁵
14	CDH4	Cadherin 4	Protein Coding	6.67	DISEASES inferred ¹⁵
15	PCBD1	Pterin-4 Alpha-Carbinolamine Dehydratase 1	Protein Coding	6.65	DISEASES inferred ¹⁵
16	BLK	BLK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	6.64	DISEASES inferred ¹⁵
17	LHX1	LIM Homeobox 1	Protein Coding	6.62	DISEASES inferred ¹⁵
18	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	6.44	DISEASES inferred ¹⁵
19	HPN-AS1	HPN Antisense RNA 1	RNA Gene	6.4	DISEASES inferred ¹⁵
20	UMOD	Uromodulin	Protein Coding	6.38	DISEASES inferred ¹⁵
21	GGNBP2	Gametogenetin Binding Protein 2	Protein Coding	6.24	DISEASES inferred ¹⁵
22	PTF1A	Pancreas Associated Transcription Factor 1a	Protein Coding	6.22	DISEASES inferred ¹⁵

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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, NT409	deletion	Pathogenic	12636
4	HNF1B	HNF1B, 5-BP DEL	deletion	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 DEL	deletion	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>A	SNV	Pathogenic	12643	rs1568670479	17:36099430-36099430	17:37739439-37739439
11	HNF1B	NM_000458.4(HNF1B):c.544+1G>T	SNV	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, EX5DUP	duplication	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>T	SNV	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>A	SNV	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

Sources

Expression for Renal Cysts and Diabetes Syndrome

Search GEO for disease gene expression data for Renal Cysts and Diabetes Syndrome.

Sources

Pathways for Renal Cysts and Diabetes Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	13.18	PDX1 PAX4 NEUROD1 HNF4A HNF1B HNF1A
2	Glucose / Energy Metabolism ⁴	12.25	PDX1 NEUROD1 HNF4A HNF1A
3	WNT Signaling ⁶³	12.13	HNF4A HNF1B HNF1A CDH4
4	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.83	PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
5	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.75	PDX1 PAX4 NEUROD1 HNF1B
6	Regulation of beta-cell development ⁶⁵ Show member pathways Maturity onset diabetes of the young ³⁶ Regulation of gene expression in beta cells ⁶⁵ Regulation of gene expression in early pancreatic precursor cells ⁶⁵ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁵ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁵	11.7	PDX1 PAX4 NEUROD1 HNF4A HNF1B HNF1A
7	Type II diabetes mellitus ³⁶ ¹ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶⁰	11.21	PDX1 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
8	FOXA2 and FOXA3 transcription factor networks ¹	11.08	PDX1 KCNJ11 HNF4A HNF1A GCK ABCC8
9	Dichloroethylene metabolism ²²	10.31	HNF4A HNF1A

Sources

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

Sources for Renal Cysts and Diabetes Syndrome

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Renal Cysts and Diabetes Syndrome (RCAD)

Aliases & Classifications for Renal Cysts and Diabetes Syndrome

MalaCards integrated aliases for Renal Cysts and Diabetes Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Renal Cysts and Diabetes Syndrome

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Renal Cysts and Diabetes Syndrome:

Drugs & Therapeutics for Renal Cysts and Diabetes Syndrome

Genetic Tests for Renal Cysts and Diabetes Syndrome

Genetic tests related to Renal Cysts and Diabetes Syndrome:

Anatomical Context for Renal Cysts and Diabetes Syndrome

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

Publications for Renal Cysts and Diabetes Syndrome

Articles related to Renal Cysts and Diabetes Syndrome:

Genes for Renal Cysts and Diabetes Syndrome

Genes related to Renal Cysts and Diabetes Syndrome (1 elite genes):

Variations for Renal Cysts and Diabetes Syndrome

ClinVar genetic disease variations for Renal Cysts and Diabetes Syndrome:

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

Expression 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:

GO Terms for Renal Cysts and Diabetes Syndrome

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

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

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

Sources for Renal Cysts and Diabetes Syndrome