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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: AR-PKD;   ARPKD;   Polycystic Kidney Disease, Infantile, Type I;   autosomal recessive polycystic kidney
 narrow_synonym: congenital hepatic fibrosis
 xref: GARD:8378;   ICD10CM:Q61.1;   ICD9CM:753.14;   MESH:D017044;   MONDO:0009889;   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 chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610 		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 4:85,812,784...85,824,964
Ensembl chr 4:85,812,784...85,830,504 		JBrowse link
G Arl3 ARF like GTPase 3 ISS OMIM:263200 MouseDO NCBI chr 1:255,342,078...255,388,087
Ensembl chr 1:255,342,076...255,388,279 		JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:263200 MouseDO NCBI chr20:17,448,745...17,685,887
Ensembl chr20:17,448,765...17,685,885 		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 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320 PMID:20555320 RGD:7204130, RGD:7204130 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292 		JBrowse link
G Cdc25a cell division cycle 25A treatment IEP
ISO
IMP 		protein:increased expression:cholangiocyte: RGD PMID:22155366 PMID:22155366 PMID:22155366 PMID:22155366 RGD:14700990, RGD:14700990, RGD:14700990, RGD:14700990 NCBI chr 8:118,742,824...118,761,190
Ensembl chr 8:118,742,426...118,761,188 		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 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643 		JBrowse link
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,360,096...134,374,233
Ensembl chr 5:134,360,111...134,374,231 		JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,160,356...134,170,908
Ensembl chr 5:134,160,358...134,176,156 		JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,334,396...134,352,268
Ensembl chr 5:134,334,701...134,352,236 		JBrowse link
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:133,938,882...133,970,226
Ensembl chr 5:133,938,883...133,970,226 		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 6:47,028,461...47,046,671 		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:25741868 PMID:28492532 PMID:29068549 More... NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:12,473,955...12,697,058 		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 8:109,067,466...109,108,390
Ensembl chr 8:109,067,775...109,108,393 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358 		JBrowse link
G Eln elastin IEP RGD PMID:21478483 RGD:7207865 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:83,309,895...83,312,397
Ensembl chr 9:83,311,246...83,315,608 		JBrowse link
G Ift88 intraflagellar transport 88 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:263200 		CTD
MouseDO		 PMID:8191288 PMID:8608416 NCBI chr15:35,685,678...35,786,875
Ensembl chr15:35,688,927...35,781,634 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028 		JBrowse link
G Nek1 NIMA-related kinase 1 ISS OMIM:263200 MouseDO NCBI chr16:34,009,092...34,137,418
Ensembl chr16:34,009,094...34,128,576 		JBrowse link
G Nek8 NIMA-related kinase 8 ISS OMIM:263200 MouseDO NCBI chr10:63,558,940...63,570,954
Ensembl chr10:63,558,788...63,570,488 		JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:113,500,509...113,541,179 		JBrowse link
G Panx1 Pannexin 1 IEP RGD PMID:31630543 RGD:14995937 NCBI chr 8:20,128,783...20,171,200
Ensembl chr 8:20,132,165...20,171,200 		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 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		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 PMID:32775833 PMID:33639313 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:14,078,679...14,125,681 		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 chr14:5,541,821...5,585,140 JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin susceptibility
severity 		ISO
IAGP
IEP
ISS 		DNA:missense mutations, nonsense mutations: :multiple
DNA:splice site mutation:intron:IVS35-2A>T
protein:decreased expression:kidney
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
DNA:missense mutations:cds:
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
OMIM:263200
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I 		CTD
ClinVar
MouseDO
RGD		 PMID:1189128 PMID:3239877 PMID:9536098 PMID:11898128 PMID:11919560 More... RGD:70439, RGD:70439, RGD:1642441, RGD:14700917, RGD:11062506, RGD:70439 NCBI chr 9:30,040,466...30,533,834
Ensembl chr 9:30,046,038...30,533,935 		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 2:126,533,436...126,691,879
Ensembl chr 2:126,533,560...126,691,971 		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 4:11,628,860...11,646,961
Ensembl chr 4:11,628,862...11,645,402 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:166,511,985...166,559,462 		JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 PMID:11095650 PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		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 3:32,367,434...32,416,565
Ensembl chr 3:32,367,670...32,416,568 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALG9-associated autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome 		OMIM
CTD
ClinVar		 PMID:15945070 PMID:16199547 PMID:25741868 PMID:25966638 PMID:26467025 More... NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:60,009,618...60,085,054 		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 		ClinVar Annotator: match by term: PKHD1-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4
OMIM:263200 		OMIM
ClinVar
MouseDO		 PMID:1189128 PMID:3239877 PMID:9536098 PMID:11898128 PMID:11919560 More... NCBI chr 9:30,040,466...30,533,834
Ensembl chr 9:30,046,038...30,533,935 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE ClinVar PMID:12110947 PMID:18414213 PMID:18929575 PMID:19684605 PMID:20882035 More... NCBI chr 1:262,964,345...263,052,898
Ensembl chr 1:262,965,011...263,052,634 		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: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr 8:109,067,466...109,108,390
Ensembl chr 8:109,067,775...109,108,393 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Multiple Abnormalities 3816
            polycystic kidney disease 161
              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 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                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