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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Central Nervous System Diseases (D002493)
Parent Node: Diabetes Mellitus, Type 2 (D003924)
Parent Node: Kidney Diseases, Cystic (D052177)
..Starting node ..Renal cysts and diabetes syndrome (C535520)
Child Nodes:
Sister Nodes:
..Baraitser Rodeck Garner syndrome (C537906)
..Brachymesomelia renal syndrome (C537096)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Cystic Kidney Disease with Ventriculomegaly (C565657)
..Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
..Joubert syndrome 1 (C536293)
..Joubert syndrome 2 (C536294)
..Joubert syndrome 4 (C536296)
..Joubert Syndrome 7 (C566916)
..Medullary Sponge Kidney (D007691) 1
..Multicystic Dysplastic Kidney (D021782) 2
..NEPHRONOPHTHISIS 11 (OMIM:613550)
..Nephronophthisis 2 (C566582)
..Nephronophthisis 3 (C565780)
..Nephronophthisis 4 (C564640)
..Nephronophthisis 7 (C566930)
..Nephronophthisis, familial juvenile (C537699)
..Polycystic Kidney Diseases (D007690) 21
..Renal cysts and diabetes syndrome (C535520)
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Senior Loken Syndrome (C537580)
..Senior-Loken Syndrome 3 (C564637)
..Senior-Loken syndrome 4 (C537581)
..Senior-Loken Syndrome 5 (C563763)
..Senior-Loken Syndrome 6 (C565708)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9649

Name:

Renal cysts and diabetes syndrome

Definition:

Alternative IDs:

OMIM:137920

ParentIDs:

MESH:D002493|MESH:D003924|MESH:D052177

TreeNumbers:

C10.228/C535520 |C12.777.419.403/C535520 |C13.351.968.419.403/C535520 |C18.452.394.750.149/C535520 |C19.246.300/C535520

Synonyms:

Slim Mappings:

Endocrine system disease|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C535520
MeSH: C535520
OMIM: 137920;

Genes: HNF1B;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004904	Maturity-onset diabetes of the young	HP:0040284
3	HP:0003674	Onset
4	HP:0004379	Abnormality of alkaline phosphatase level	HP:0040284
5	HP:0030997	Atretic vas deferens
6	HP:0000813	Bicornuate uterus	HP:0040284
7	HP:0001080	Biliary tract abnormality	HP:0040282
8	HP:0002120	Cerebral cortical atrophy
9	HP:0005563	Decreased numbers of nephrons
10	HP:0003259	Elevated circulating creatinine concentration	HP:0040282
11	HP:0002910	Elevated hepatic transaminase	HP:0040282
12	HP:0030424	Epididymal cyst
13	HP:0001738	Exocrine pancreatic insufficiency	HP:0040284
14	HP:0003076	Glycosuria	HP:0040282
15	HP:0001997	Gout	HP:0040282
16	HP:0000013	Hypoplasia of the uterus	HP:0040284
17	HP:0000047	Hypospadias
18	HP:0100611	Multiple glomerular cysts	HP:0040284
19	HP:0000787	Nephrolithiasis
20	HP:0000833	obsolete Glucose intolerance	HP:0040282
21	HP:0002594	Pancreatic hypoplasia	HP:0040284
22	HP:0003812	Phenotypic variability
23	HP:0000093	Proteinuria	HP:0040282
24	HP:0012207	Reduced sperm motility
25	HP:0000107	Renal cyst	HP:0040284
26	HP:0000089	Renal hypoplasia	HP:0040284
27	HP:0003774	Stage 5 chronic kidney disease	HP:0040282
28	HP:0000122	Unilateral renal agenesis	HP:0040284
29	HP:0000074	Ureteropelvic junction obstruction

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000458.3(HNF1B):c.1654-4G>A	6928	HNF1B	Uncertain significance	193922485	RCV000030525;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36047399	36047399	NM_000458.3:c.1654-4G>A		NC_000017.10:g.36047399C>T	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.1654-11_1654-9delTCTinsC	6928	HNF1B	Uncertain significance	386134268	RCV000030523;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36047404	36047406	NM_000458.3:c.1654-11_1654-9delTCTinsC		NC_000017.10:g.36047404_36047406delAGAinsG	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.1654-22T>C	6928	HNF1B	Benign	3110641	RCV000030524;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36047417	36047417	NM_000458.3:c.1654-22T>C		NC_000017.10:g.36047417A>G	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.1413C>T (p.Pro471=)	6928	HNF1B	Likely benign	140781855	RCV000030522;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36061109	36061109	NM_000458.3:c.1413C>T	NP_000449.1:p.Pro471=	NC_000017.10:g.36061109G>A	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.1325T>C (p.Met442Thr)	6928	HNF1B	Likely pathogenic	193922482	RCV000030520;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36064938	36064938	NM_000458.3:c.1325T>C	NP_000449.1:p.Met442Thr	NC_000017.10:g.36064938A>G	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.1045+12T>C	6928	HNF1B	Uncertain significance	141166864	RCV000030519;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36091574	36091574	NM_000458.3:c.1045+12T>C		NC_000017.10:g.36091574A>G	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.1006C>T (p.His336Tyr)	6928	HNF1B	Likely pathogenic	138986885	RCV000030518;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36091625	36091625	NM_000458.3:c.1006C>T	NP_000449.1:p.His336Tyr	NC_000017.10:g.36091625G>A	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.962A>G (p.Asn321Ser)	6928	HNF1B	Likely pathogenic	193922493	RCV000030537;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36091669	36091669	NM_000458.3:c.962A>G	NP_000449.1:p.Asn321Ser	NC_000017.10:g.36091669T>C	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.951C>G (p.Ala317=)	6928	HNF1B	Likely benign	145750370	RCV000030536;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36091680	36091680	NM_000458.3:c.951C>G	NP_000449.1:p.Ala317=	NC_000017.10:g.36091680G>C	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.949G>T (p.Ala317Ser)	6928	HNF1B	Likely pathogenic	193922492	RCV000030535;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36091682	36091682	NM_000458.3:c.949G>T	NP_000449.1:p.Ala317Ser	NC_000017.10:g.36091682C>A	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.826C>T (p.Arg276Ter)	6928	HNF1B	Pathogenic	121918672	RCV000013475;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36091805	36091805	NM_000458.3:c.826C>T	NP_000449.1:p.Arg276Ter	NC_000017.10:g.36091805G>A	OMIM Allelic Variant:189907.0006	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.750C>T (p.Tyr250=)	6928	HNF1B	Likely benign	144249535	RCV000030534;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36093609	36093609	NM_000458.3:c.750C>T	NP_000449.1:p.Tyr250=	NC_000017.10:g.36093609G>A	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.703C>T (p.Arg235Trp)	6928	HNF1B	Likely pathogenic	193922491	RCV000030532;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36093656	36093656	NM_000458.3:c.703C>T	NP_000449.1:p.Arg235Trp	NC_000017.10:g.36093656G>A	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.529C>T (p.Arg177Ter)	6928	HNF1B	Pathogenic	1800575	RCV000013470;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36099446	36099446	NM_000458.3:c.529C>T	NP_000449.1:p.Arg177Ter	NC_000017.10:g.36099446G>A	OMIM Allelic Variant:189907.0001	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.511T>C (p.Trp171Arg)	6928	HNF1B	Likely pathogenic	193922490	RCV000030531;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36099464	36099464	NM_000458.3:c.511T>C	NP_000449.1:p.Trp171Arg	NC_000017.10:g.36099464A>G	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.494G>A (p.Arg165His)	6928	HNF1B	Pathogenic	121918675	RCV000013482;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36099481	36099481	NM_000458.3:c.494G>A	NP_000449.1:p.Arg165His	NC_000017.10:g.36099481C>T	OMIM Allelic Variant:189907.0014	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.477delT (p.Met160Terfs)	6928	HNF1B	Likely pathogenic	193922489	RCV000030530;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36099498	36099498	NM_000458.3:c.477delT	NP_000449.1:p.Met160Terfs	NC_000017.10:g.36099498delA	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.443C>G (p.Ser148Trp)	6928	HNF1B	Pathogenic	121918674	RCV000013480;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36099532	36099532	NM_000458.3:c.443C>G	NP_000449.1:p.Ser148Trp	NC_000017.10:g.36099532G>C	OMIM Allelic Variant:189907.0011	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.345-1G>T	6928	HNF1B	Likely pathogenic	193922488	RCV000030529;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36099631	36099631	NM_000458.3:c.345-1G>T		NC_000017.10:g.36099631C>A	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.345-19C>T	6928	HNF1B	Benign	59527848	RCV000030528; RCV000175611;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004; MedGen:CN169374	17	36099649	36099649	NM_000458.3:c.345-19C>T		NC_000017.10:g.36099649G>A	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney; CN169374 not specified
NM_000458.3(HNF1B):c.344G>A (p.Ser115Asn)	6928	HNF1B	Likely pathogenic	193922487	RCV000030527;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36104532	36104532	NM_000458.3:c.344G>A	NP_000449.1:p.Ser115Asn	NC_000017.10:g.36104532C>T	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.301G>T (p.Glu101Ter)	6928	HNF1B	Pathogenic	121918671	RCV000013473;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36104575	36104575	NM_000458.3:c.301G>T	NP_000449.1:p.Glu101Ter	NC_000017.10:g.36104575C>A	OMIM Allelic Variant:189907.0004	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.221T>A (p.Leu74Ter)	6928	HNF1B	Likely pathogenic	193922486	RCV000030526;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36104655	36104655	NM_000458.3:c.221T>A	NP_000449.1:p.Leu74Ter	NC_000017.10:g.36104655A>T	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.140C>T (p.Pro47Leu)	6928	HNF1B	Likely pathogenic	193922483	RCV000030521;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36104736	36104736	NM_000458.3:c.140C>T	NP_000449.1:p.Pro47Leu	NC_000017.10:g.36104736G>A	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.73G>T (p.Val25Leu)	6928	HNF1B	Likely benign	139107479	RCV000030533;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36104803	36104803	NM_000458.3:c.73G>T	NP_000449.1:p.Val25Leu	NC_000017.10:g.36104803C>A	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney
NM_000458.3(HNF1B):c.-14dupT	6928	HNF1B	Uncertain significance	193922481	RCV000030517;	N	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	17	36104889	36104889	NM_000458.3:c.-14dupT		NC_000017.10:g.36104889dupA	-	C0431693 137920 Familial hypoplastic, glomerulocystic kidney