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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autosomal recessive polycystic kidney disease
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Accession:DOID:0110861 term browser browse the term
Definition:A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. (DO)
Synonyms:exact_synonym: ARPKD;   Polycystic Kidney Disease, Infantile, Type I;   autosomal recessive polycystic kidney
 narrow_synonym: congenital hepatic fibrosis
 primary_id: MESH:D017044
 xref: GARD:8378;   ICD10CM:Q61.1;   ICD9CM:753.14;   NCI:C84579;   ORDO:731


show annotations for term's descendants           Sort by:
autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IMP
IEP		 mRNA:increased expression:kidney (rat) RGD PMID:20229187 PMID:20798958 RGD:2325220, RGD:12879406 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Aqp1 aquaporin 1 IEP
ISO		 mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISS OMIM:263200 MouseDO NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:263200 MouseDO NCBI chr20:17,449,639...17,686,775
Ensembl chr20:17,449,560...17,686,776 		JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140 PMID:17960140 RGD:7175542, RGD:7175542 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320 PMID:20555320 RGD:7204130, RGD:7204130 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cdc25a cell division cycle 25A treatment IEP
IMP
ISO		 protein:increased expression:cholangiocyte: RGD PMID:22155366 PMID:22155366 PMID:22155366 PMID:22155366 RGD:14700990, RGD:14700990, RGD:14700990, RGD:14700990 NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701 		JBrowse link
G Cftr CF transmembrane conductance regulator IEP
ISO		 mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:129,123,323...129,137,464
Ensembl chr 5:129,123,336...129,137,464 		JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:128,922,355...128,934,188
Ensembl chr 5:128,923,615...128,934,165 		JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:129,097,571...129,115,488
Ensembl chr 5:129,097,926...129,115,463 		JBrowse link
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:128,702,130...128,733,476
Ensembl chr 5:128,702,131...128,733,476 		JBrowse link
G Cys1 cystin 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
OMIM:263200		 ClinVar
MouseDO
RGD		 PMID:25741868 PMID:34521872 PMID:11854326 RGD:7175541 NCBI chr 6:41,300,836...41,318,071
Ensembl chr 6:41,300,836...41,318,071 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:16199547 PMID:23339108 PMID:28492532 PMID:29068549 PMID:32753734 NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1-like ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:263200		 CTD
MouseDO		 PMID:28530676 NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Eln elastin IEP RGD PMID:21478483 RGD:7207865 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Ift88 intraflagellar transport 88 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:263200		 CTD
MouseDO		 PMID:8191288 PMID:8608416 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nek1 NIMA-related kinase 1 ISS OMIM:263200 MouseDO NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Nek8 NIMA-related kinase 8 ISS OMIM:263200 MouseDO NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416 		JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Panx1 Pannexin 1 IEP RGD PMID:31630543 RGD:14995937 NCBI chr 8:11,851,176...11,889,774
Ensembl chr 8:11,850,730...11,889,774 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha IEP protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISS
ISO		 OMIM:263200
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease		 MouseDO
ClinVar		 PMID:25741868 PMID:26467025 PMID:29100090 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin susceptibility
severity		 ISO
ISS
IAGP
IEP		 DNA:missense mutations, nonsense mutations: :multiple
OMIM:263200
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
DNA:missense mutations:cds:
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism
DNA:splice site mutation:intron:IVS35-2A>T
protein:decreased expression:kidney		 MouseDO
ClinVar
CTD
RGD		 PMID:1189128 PMID:3239877 PMID:9536098 PMID:11898128 PMID:11919560 More... RGD:70439, RGD:70439, RGD:11062506, RGD:14700917, RGD:70439, RGD:1642441 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease IAGP RGD PMID:11919560 RGD:70439
G Sclt1 sodium channel and clathrin linker 1 ISS OMIM:263200 MouseDO NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 IEP
ISO		 mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476 		JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 PMID:11095650 PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 PMID:11095650 PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788
G Tsc1 TSC complex subunit 1 ISS OMIM:263200 MouseDO NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 More... NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261 		JBrowse link
polycystic kidney disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO
ISS		 OMIM:263200
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4		 OMIM
MouseDO
ClinVar		 PMID:1189128 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 More... NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Polycystic kidney disease 4 ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
polycystic kidney disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dzip1l DAZ interacting zinc finger protein 1-like ISO ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        Congenital Abnormalities 7410
          Multiple Abnormalities 3598
            polycystic kidney disease 152
              autosomal recessive polycystic kidney disease 42
                Gillessen-Kaesbach-Nishimura Dysplasia 1
                Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
                polycystic kidney disease 4 2
                polycystic kidney disease 5 1
Path 2
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        genetic disease 18227
          monogenic disease 10209
            autosomal genetic disease 9352
              autosomal recessive disease 6379
                autosomal recessive polycystic kidney disease 42
                  Gillessen-Kaesbach-Nishimura Dysplasia 1
                  Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
                  polycystic kidney disease 4 2
                  polycystic kidney disease 5 1
paths to the root