PedAM

Pediatric Disease Annotations & Medicines


	polycystic liver disease

Disease ID	493
Disease	polycystic liver disease
Definition	A usually asymptomatic hereditary disorder which is often associated with polycystic kidney disease. It is characterized by the presence of fluid-filled biliary cysts throughout the liver.
Synonym	(congenital cystic liver disease) or (congenital hepatic cyst) (congenital cystic liver disease) or (congenital hepatic cyst) (disorder) cong cystic liver dis congenital cystic disease of liver congenital cystic disease of liver (disorder) congenital cystic liver congenital cystic liver disease congenital cystic liver disease (disorder) congenital cystic liver disease nos congenital cystic liver disease nos (disorder) congenital hepatic cyst congenital polycystic disease of liver congenital polycystic liver disease cystic disease liver cystic disease of liver cystic diseases liver cystic liver disease disease liver polycystic diseases liver polycystic fibrocystic disease of liver fibrocystic liver disease fibrocystic liver disease (disorder) isolated autosomal dominant polycystic liver disease isolated polycystic liver disease liver polycystic disease of liver cystic disease pld - polycystic liver disease
Orphanet	ORPHANET:2924
OMIM	OMIM:174050
DOID	DOID:1173
ICD10	ICD10CM:Q44.6
UMLS	C0158683
SNOMED-CT	SNOMEDCT_US_2016_09_01:72925005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0022658 \| kidney disease \| 4 C0085413 \| autosomal dominant polycystic kidney \| 3 C0022679 \| cystic kidney \| 3 C0085413 \| autosomal dominant polycystic kidney disease \| 2 C0349604 \| intracranial meningiomas \| 1 C0349604 \| intracranial meningioma \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0025286 \| meningiomas \| 1 C0010631 \| cystadenocarcinoma \| 1 C0018552 \| hamartomas \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) LRP5 \| 4041 \| ORPHANET SEC63 \| 11231 \| CLINVAR;CTD_human;ORPHANET PRKCSH \| 5589 \| CLINVAR;CTD_human;ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5589 \| PRKCSH \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:53) 29850 \| TRPM5 \| DISEASES 6343 \| SCT \| DISEASES 10952 \| SEC61B \| DISEASES 56521 \| DNAJC12 \| DISEASES 6928 \| HNF1B \| DISEASES 5311 \| PKD2 \| DISEASES 29927 \| SEC61A1 \| DISEASES 821 \| CANX \| DISEASES 5589 \| PRKCSH \| DISEASES 10343 \| PKDREJ \| DISEASES 3337 \| DNAJB1 \| DISEASES 59341 \| TRPV4 \| DISEASES 8989 \| TRPA1 \| DISEASES 5310 \| PKD1 \| DISEASES 5595 \| MAPK3 \| DISEASES 64374 \| SIL1 \| DISEASES 56302 \| TRPV5 \| DISEASES 3087 \| HHEX \| DISEASES 6750 \| SST \| DISEASES 4041 \| LRP5 \| DISEASES 79053 \| ALG8 \| DISEASES 6786 \| STIM1 \| DISEASES 699 \| BUB1 \| DISEASES 3175 \| ONECUT1 \| DISEASES 993 \| CDC25A \| DISEASES 3171 \| FOXA3 \| DISEASES 3708 \| ITPR1 \| DISEASES 9451 \| EIF2AK3 \| DISEASES 24146 \| CLDN15 \| DISEASES 358 \| AQP1 \| DISEASES 112 \| ADCY6 \| DISEASES 54822 \| TRPM7 \| DISEASES 79054 \| TRPM8 \| DISEASES 9033 \| PKD2L1 \| DISEASES 84876 \| ORAI1 \| DISEASES 5587 \| PRKD1 \| DISEASES 10013 \| HDAC6 \| DISEASES 64359 \| NXN \| DISEASES 7095 \| SEC62 \| DISEASES 23193 \| GANAB \| DISEASES 6752 \| SSTR2 \| DISEASES 55503 \| TRPV6 \| DISEASES 140803 \| TRPM6 \| DISEASES 2475 \| MTOR \| DISEASES 11231 \| SEC63 \| DISEASES 5314 \| PKHD1 \| DISEASES 3710 \| ITPR3 \| DISEASES 7223 \| TRPC4 \| DISEASES 10525 \| HYOU1 \| DISEASES 29072 \| SETD2 \| DISEASES 111 \| ADCY5 \| DISEASES 151306 \| GPBAR1 \| DISEASES 162514 \| TRPV3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	493
Disease	polycystic liver disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:9) HP:0003270 \| Distended abdomen HP:0003155 \| Hyperphosphatasia HP:0001626 \| Cardiovascular abnormality HP:0003573 \| Increased bilirubin HP:0003418 \| Back pain HP:0000707 \| Neurological abnormality HP:0000107 \| Renal cyst HP:0001541 \| Ascites HP:0006557 \| Polycystic liver disease
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0002240 \| Enlarged liver \| 4 HP:0000113 \| Polycystic kidney dysplasia \| 2 HP:0001407 \| Hepatic cysts \| 1 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0030731 \| Carcinoma \| 1 HP:0001824 \| Weight loss \| 1 HP:0011921 \| Exudative pleural effusion \| 1 HP:0001399 \| Liver failure \| 1 HP:0003270 \| Distended abdomen \| 1 HP:0100009 \| Intracranial meningioma \| 1 HP:0002202 \| Pleural effusion \| 1

Disease ID	493
Disease	polycystic liver disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs119103233	NA	11231	SEC63	umls:C0158683	CLINVAR	NA	0.442985861	NA	SEC63	6	107929466	C	T
rs121918519	NA	5589	PRKCSH	umls:C0158683	CLINVAR	NA	0.447524428	NA	PRKCSH	19	11448604	C	T
rs121918520	NA	5589	PRKCSH	umls:C0158683	CLINVAR	NA	0.447524428	NA	PRKCSH	19	11448917	C	G,T
rs727504146	NA	11231	SEC63	umls:C0158683	CLINVAR	NA	0.442985861	NA	SEC63	6	107957901	G	-
rs794727187	NA	5589	PRKCSH	umls:C0158683	CLINVAR	NA	0.447524428	NA	PRKCSH	19	11449285	AAGA	-
rs797044656	NA	11231	SEC63	umls:C0158683	CLINVAR	NA	0.442985861	NA	SEC63	6	107893550	-	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0158683	carfilzomib	C524865	-	polycystic liver disease	MESH:C536330	therapeutic	21685914

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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