Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Kidney Diseases, Cystic (D052177)
..Starting node ..Polycystic Kidney Diseases (D007690)
Child Nodes:
........Arima syndrome (C537430)
........Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
........Daneman Davy Mancer syndrome (C535986)
........Meckel syndrome type 1 (C536133)
........Meckel syndrome type 2 (C536131)
........Meckel syndrome type 3 (C536132)
........Meckel Syndrome, Type 4 (C567003)
........Meckel Syndrome, Type 5 (C566915)
........Meckel Syndrome, Type 6 (C567365)
........Meckel-Like Cerebrorenodigital Syndrome (C567004)
........Polycystic kidney disease, type 1 (C536326)
........Polycystic Kidney, Autosomal Dominant (D016891) 3
........Polycystic Kidney, Autosomal Recessive (D017044) 3
........Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
........Potter Type III Polycystic Kidney Disease (C566792)
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:

9061

Name:

Polycystic Kidney Diseases

Definition:

Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.

Alternative IDs:

OMIM:173900

ParentIDs:

MESH:D052177

TreeNumbers:

C12.777.419.403.875 |C13.351.968.419.403.875

Synonyms:

Slim Mappings:

Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: D007690
MeSH: D007690
OMIM: 173900;

Genes: PKD1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007029	Cerebral berry aneurysm	HP:0040284
3	HP:0002253	Colonic diverticula
4	HP:0001407	Hepatic cysts
5	HP:0000822	Hypertension
6	HP:0001653	Mitral regurgitation	HP:0040284
7	HP:0001634	Mitral valve prolapse	HP:0040284
8	HP:0000113	Polycystic kidney dysplasia
9	HP:0000083	Renal insufficiency

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_001009944.2(PKD1):c.11554delC (p.Leu3852Trpfs)	-1	-	not provided	724159823	RCV000149768;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2141582	2141582	NM_001009944.2:c.11554delC	NP_001009944.2:p.Leu3852Trpfs	NC_000016.9:g.2141582delG	-	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.11512C>T (p.Gln3838Ter)	-1	-	Pathogenic	199476096	RCV000008682;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2141807	2141807	NM_001009944.2:c.11512C>T	NP_001009944.2:p.Gln3838Ter	NC_000016.9:g.2141807G>A	OMIM Allelic Variant:601313.0005	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.11457C>A (p.Tyr3819Ter)	-1	-	Pathogenic	199476098	RCV000008684;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2141862	2141862	NM_001009944.2:c.11457C>A	NP_001009944.2:p.Tyr3819Ter	NC_000016.9:g.2141862G>T	OMIM Allelic Variant:601313.0007	C0085413 173900 Polycystic kidney disease, adult type
NM_002335.3(LRP5):c.1680G>T (p.Trp560Cys)	4041	LRP5	not provided	377144001	RCV000162088;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	11	68171046	68171046	NM_002335.3:c.1680G>T	NP_002326.2:p.Trp560Cys	NC_000011.9:g.68171046G>T	-	C0085413 173900 Polycystic kidney disease, adult type
NM_002335.3(LRP5):c.3107G>A (p.Arg1036Gln)	4041	LRP5	Uncertain significance	61889560	RCV000162089; RCV000174732;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008; MedGen:CN221809	11	68191036	68191036	NM_002335.3:c.3107G>A	NP_002326.2:p.Arg1036Gln	NC_000011.9:g.68191036G>A	-	CN221809 not provided; C0085413 173900 Polycystic kidney disease, adult type
NM_002335.3(LRP5):c.3403C>T (p.Arg1135Cys)	4041	LRP5	Uncertain significance	143396225	RCV000162090; RCV000174875;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008; MedGen:CN221809	11	68192736	68192736	NM_002335.3:c.3403C>T	NP_002326.2:p.Arg1135Cys	NC_000011.9:g.68192736C>T	-	CN221809 not provided; C0085413 173900 Polycystic kidney disease, adult type
NM_002335.3(LRP5):c.3468G>C (p.Gln1156His)	4041	LRP5	not provided	724159825	RCV000149785;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	11	68193486	68193486	NM_002335.3:c.3468G>C	NP_002326.2:p.Gln1156His	NC_000011.9:g.68193486G>C	-	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.12682C>T (p.Arg4228Ter)	5310	PKD1	Pathogenic	199476095	RCV000008681;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2139958	2139958	NM_001009944.2:c.12682C>T	NP_001009944.2:p.Arg4228Ter	NC_000016.9:g.2139958G>A	OMIM Allelic Variant:601313.0004	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.12420G>A (p.Trp4140Ter)	5310	PKD1	Pathogenic	199476102	RCV000008692;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2140310	2140310	NM_001009944.2:c.12420G>A	NP_001009944.2:p.Trp4140Ter	NC_000016.9:g.2140310C>T	OMIM Allelic Variant:601313.0015	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.12261T>A (p.Cys4087Ter)	5310	PKD1	Pathogenic	199476097	RCV000008683;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2140469	2140469	NM_001009944.2:c.12261T>A	NP_001009944.2:p.Cys4087Ter	NC_000016.9:g.2140469A>T	OMIM Allelic Variant:601313.0006	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.12124C>T (p.Gln4042Ter)	5310	PKD1	Pathogenic	199476094	RCV000008679;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2140689	2140689	NM_001009944.2:c.12124C>T	NP_001009944.2:p.Gln4042Ter	NC_000016.9:g.2140689G>A	OMIM Allelic Variant:601313.0002	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.9988dupA (p.Ser3330Lysfs)	5310	PKD1	not provided	796053523	RCV000190347;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2149707	2149707	NM_001009944.2:c.9988dupA	NP_001009944.2:p.Ser3330Lysfs	NC_000016.9:g.2149707dupT	-	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.9829C>T (p.Arg3277Cys)	5310	PKD1	Pathogenic	148812376	RCV000192215;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2149956	2149956	NM_001009944.2:c.9829C>T	NP_001009944.2:p.Arg3277Cys	NC_000016.9:g.2149956G>A	-	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.8293C>T (p.Arg2765Cys)	5310	PKD1	not provided	144979397	RCV000162091;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2153765	2153765	NM_001009944.2:c.8293C>T	NP_001009944.2:p.Arg2765Cys	NC_000016.9:g.2153765G>A	-	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.5764C>T (p.Gln1922Ter)	5310	PKD1	Pathogenic	199476101	RCV000008690;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2159404	2159404	NM_001009944.2:c.5764C>T	NP_001009944.2:p.Gln1922Ter	NC_000016.9:g.2159404G>A	OMIM Allelic Variant:601313.0013	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.3133G>C (p.Val1045Leu)	5310	PKD1	not provided	724159822	RCV000149767;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2162817	2162817	NM_001009944.2:c.3133G>C	NP_001009944.2:p.Val1045Leu	NC_000016.9:g.2162817C>G	-	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.2534T>C (p.Leu845Ser)	5310	PKD1	Pathogenic	199476100	RCV000008689;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2164490	2164490	NM_001009944.2:c.2534T>C	NP_001009944.2:p.Leu845Ser	NC_000016.9:g.2164490A>G	OMIM Allelic Variant:601313.0012	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.1281_1283delGGC (p.Ala428del)	5310	PKD1	not provided	724159824	RCV000149769;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2167592	2167594	NM_001009944.2:c.1281_1283delGGC	NP_001009944.2:p.Ala428del	NC_000016.9:g.2167592_2167594delGCC	-	C0085413 173900 Polycystic kidney disease, adult type
NM_001009944.2(PKD1):c.971G>T (p.Arg324Leu)	5310	PKD1	Pathogenic	199476099	RCV000008688;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2168022	2168022	NM_001009944.2:c.971G>T	NP_001009944.2:p.Arg324Leu	NC_000016.9:g.2168022C>A	OMIM Allelic Variant:601313.0011	C0085413 173900 Polycystic kidney disease, adult type
NM_000296.3(PKD1):c.445delC (p.Gln149Serfs)	5310	PKD1	Pathogenic	796052133	RCV000190326;	N	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	16	2168761	2168761	NM_000296.3:c.445delC	NP_000287.3:p.Gln149Serfs	NC_000016.9:g.2168761delG	-	C0085413 173900 Polycystic kidney disease, adult type