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

Disease Browser
Parent Node: Cysts (D003560)
Parent Node: Liver Diseases (D008107)
..Starting node ..Polycystic liver disease (C536330)
Child Nodes:
Sister Nodes:
..alpha 1-Antitrypsin Deficiency (D019896) 1
..Budd-Chiari Syndrome (D006502) 1
..Carnitine Palmitoyltransferase II Deficiency, Infantile (C563462)
..Cholestasis, Intrahepatic (D002780) 14
..COACH syndrome (C536430)
..Congenital Hepatic Fibrosis (C580013)
..Cyanosis and Hepatic Disease (C565660)
..Drug-Induced Liver Injury (D056486) 2
..Fatty Liver (D005234) 6
..Focal Nodular Hyperplasia (D020518)
..Glycogen Storage Disease 0, Liver (C565485)
..GSD IV, Nonprogressive Hepatic (C565540)
..Hepatic Insufficiency (D048550) 9
..Hepatic Veno-Occlusive Disease (D006504) 1
..Hepatitis (D006505) 17
..Hepatolenticular Degeneration (D006527) 2
..Hepatomegaly (D006529) 4
..Hepatopulmonary Syndrome (D020065)
..Hepatorenal Syndrome (D006530)
..Hypertension, Portal (D006975) 3
..Liver Abscess (D008100) 2
..Liver Cirrhosis (D008103) 16
..Liver Diseases, Alcoholic (D008108) 3
..Liver Diseases, Parasitic (D008109) 5
..Liver Fibrocystic Disease and Polydactyly (C565272)
..Liver Neoplasms (D008113) 8
..Navajo neurohepatopathy (C538344) 1
..Peliosis Hepatis (D010382)
..Phosphoenolpyruvate carboxykinase deficiency (C536654)
..Polycystic liver disease (C536330)
..Porphyrias, Hepatic (D017094) 14
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Retinohepatoendocrinologic Syndrome (C564839)
..Tuberculosis, Hepatic (D014386)
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9065

Name:

Polycystic liver disease

Definition:

Alternative IDs:

OMIM:174050

ParentIDs:

MESH:D003560|MESH:D008107

TreeNumbers:

C04.182/C536330 |C06.552/C536330 |C23.300.306/C536330

Synonyms:

Isolated autosomal dominant polycystic liver disease |Isolated polycystic liver disease |PCLD

Slim Mappings:

Cancer|Digestive system disease|Pathology (anatomical condition)

Reference:

MedGen: C536330
MeSH: C536330
OMIM: 174050;

Genes: PRKCSH; SEC63;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003270	Abdominal distention
3	HP:0001626	Abnormality of the cardiovascular system
4	HP:0000707	Abnormality of the nervous system
5	HP:0001541	Ascites
6	HP:0003418	Back pain
7	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040283
8	HP:0003573	Increased total bilirubin
9	HP:0006557	Polycystic liver disease
10	HP:0000107	Renal cyst

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_002335.3(LRP5):c.1360G>A (p.Val454Met)	4041	LRP5	not provided	373910016	RCV000162092;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005	11	68154128	68154128	NM_002335.3:c.1360G>A	NP_002326.2:p.Val454Met	NC_000011.9:g.68154128G>A	-	C0158683 174050 Congenital cystic disease of liver
NM_002335.3(LRP5):c.3562C>T (p.Arg1188Trp)	4041	LRP5	not provided	141178995	RCV000149786;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005	11	68193580	68193580	NM_002335.3:c.3562C>T	NP_002326.2:p.Arg1188Trp	NC_000011.9:g.68193580C>T	-	C0158683 174050 Congenital cystic disease of liver
NM_002335.3(LRP5):c.4587G>C (p.Arg1529Ser)	4041	LRP5	not provided	724159826	RCV000149787;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005	11	68216277	68216277	NM_002335.3:c.4587G>C	NP_002326.2:p.Arg1529Ser	NC_000011.9:g.68216277G>C	-	C0158683 174050 Congenital cystic disease of liver
NM_002335.3(LRP5):c.4651G>A (p.Asp1551Asn)	4041	LRP5	not provided	724159827	RCV000149788;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005	11	68216341	68216341	NM_002335.3:c.4651G>A	NP_002326.2:p.Asp1551Asn	NC_000011.9:g.68216341G>A	-	C0158683 174050 Congenital cystic disease of liver
NM_002743.3(PRKCSH):c.1240C>T (p.Gln414Ter)	5589	PRKCSH	Pathogenic	121918519	RCV000014146;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005	19	11559419	11559419	NM_002743.3:c.1240C>T	NP_002734.2:p.Gln414Ter	NC_000019.9:g.11559419C>T	OMIM Allelic Variant:177060.0004	C0158683 174050 Congenital cystic disease of liver
NM_002743.3(PRKCSH):c.1269C>G (p.Tyr423Ter)	5589	PRKCSH	Pathogenic	121918520	RCV000014147;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005	19	11559732	11559732	NM_002743.3:c.1269C>G	NP_002734.2:p.Tyr423Ter	NC_000019.9:g.11559732C>G	OMIM Allelic Variant:177060.0005	C0158683 174050 Congenital cystic disease of liver
NM_002743.3(PRKCSH):c.1460_1463delAAGA (p.Lys487Argfs)	5589	PRKCSH	Pathogenic	794727187	RCV000175169;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005	19	11560100	11560103	NM_002743.3:c.1460_1463delAAGA	NP_002734.2:p.Lys487Argfs	NC_000019.9:g.11560100_11560103delAAGA	-	C0158683 174050 Congenital cystic disease of liver
NM_007214.4(SEC63):c.1605dupA (p.Pro536Thrfs)	11231	SEC63	Pathogenic	797044656	RCV000175067;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005	6	108214755	108214755	NM_007214.4:c.1605dupA	NP_009145.1:p.Pro536Thrfs	NC_000006.11:g.108214755dupT	-	C0158683 174050 Congenital cystic disease of liver
NM_007214.4(SEC63):c.452+1G>A	11231	SEC63	Pathogenic	869312977	RCV000210666;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005	6	108243000	108243000	NM_007214.4:c.452+1G>A		NC_000006.11:g.108243000C>T	-	C0158683 174050 Congenital cystic disease of liver
NM_007214.4(SEC63):c.220delG (p.Val74Terfs)	11231	SEC63	Pathogenic	869312978	RCV000210741;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005	6	108250623	108250623	NM_007214.4:c.220delG	NP_009145.1:p.Val74Terfs	NC_000006.11:g.108250623delC	-	C0158683 174050 Congenital cystic disease of liver
NM_007214.4(SEC63):c.173G>A (p.Trp58Ter)	11231	SEC63	Pathogenic	119103233	RCV000002251;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005	6	108250670	108250670	NM_007214.4:c.173G>A	NP_009145.1:p.Trp58Ter	NC_000006.11:g.108250670C>T	OMIM Allelic Variant:608648.0001	C0158683 174050 Congenital cystic disease of liver
NM_007214.4(SEC63):c.109delC (p.Arg37Glufs)	11231	SEC63	Pathogenic	727504146	RCV000173417; RCV000153932;	N	MedGen:C0158683,OMIM:174050,ORPHA:2924,SNOMED CT:72925005; MedGen:CN221809	6	108279105	108279105	NM_007214.4:c.109delC	NP_009145.1:p.Arg37Glufs	NC_000006.11:g.108279105delG	-	C0158683 174050 Congenital cystic disease of liver; CN221809 not provided