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
Accession: DOID:0110861
browse the term
Definition: A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.
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
For additional species annotation, visit the
Alliance of Genome Resources .
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Ace
angiotensin I converting enzyme
IMP IEP
mRNA:increased expression:kidney (rat)
RGD
PMID:20229187 , PMID:20798958
RGD:2325220 , RGD:12879406
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Akt1
AKT serine/threonine kinase 1
IDA
protein:increased serine phosphorylation:cholangiocyte
RGD
PMID:24498161
RGD:10040950
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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Aqp1
aquaporin 1
IEP ISO
mRNA, protein:increased expression, altered location:bile duct, epithelial cell CTD Direct Evidence: marker/mechanism
CTD
PMID:18988797 , PMID:18988797
RGD:2307071
NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
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Arl3
ADP ribosylation factor like GTPase 3
ISS
OMIM:263200
MouseDO
NCBI chr 1:266,287,015...266,333,099
Ensembl chr 1:266,287,017...266,333,105
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Bicc1
BicC family RNA binding protein 1
ISS
OMIM:263200
MouseDO
NCBI chr20:18,780,605...18,940,429
Ensembl chr20:18,780,605...18,940,408
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C3
complement C3
ISO
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:17960140 , PMID:17960140
RGD:7175542 , RGD:7175542
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Cd14
CD14 molecule
severity
ISO
RGD
PMID:20555320 , PMID:20555320
RGD:7204130 , RGD:7204130
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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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 8:117,953,223...117,971,552
Ensembl chr 8:117,953,444...117,971,519
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Cftr
CF transmembrane conductance regulator
IEP ISO
mRNA, protein:increased expression:bile duct epithelium CTD Direct Evidence: marker/mechanism
CTD
PMID:18988797 , PMID:18988797
RGD:2307071
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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Cyp4a1
cytochrome P450, family 4, subfamily a, polypeptide 1
IEP
mRNA:increased expression:kidney
RGD
PMID:19129252
RGD:2303380
NCBI chr 5:134,492,734...134,507,158
Ensembl chr 5:134,492,756...134,507,154
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Cyp4a2
cytochrome P450, family 4, subfamily a, polypeptide 2
IEP
mRNA:increased expression:kidney
RGD
PMID:19129252
RGD:2303380
NCBI chr 5:134,196,910...134,207,888
Ensembl chr 5:134,196,912...134,207,863
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Cyp4a3
cytochrome P450, family 4, subfamily a, polypeptide 3
IEP
mRNA:increased expression:kidney
RGD
PMID:19129252
RGD:2303380
NCBI chr 5:134,468,666...134,484,851
Ensembl chr 5:134,469,270...134,484,839
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Cyp4a8
cytochrome P450, family 4, subfamily a, polypeptide 8
IEP
mRNA:increased expression:kidney
RGD
PMID:19129252
RGD:2303380
NCBI chr 5:133,978,953...134,008,255
Ensembl chr 5:133,978,954...134,008,255
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Cys1
cystin 1
ISO ISS
OMIM:263200
MouseDO
PMID:11854326
RGD:7175541
NCBI chr 6:43,844,937...43,862,131
Ensembl chr 6:43,844,937...43,862,131
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Dzip1l
DAZ interacting zinc finger protein 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28530676
NCBI chr 8:107,875,659...107,916,298
Ensembl chr 8:107,875,991...107,916,294
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9486961
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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Eln
elastin
IEP
RGD
PMID:21478483
RGD:7207865
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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Gpbar1
G protein-coupled bile acid receptor 1
ISO
mRNA,protein:increased expression: cholangiocyte
RGD
PMID:28543567
RGD:14700993
NCBI chr 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594
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Ift88
intraflagellar transport 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8191288 PMID:8608416
NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
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Mtor
mechanistic target of rapamycin kinase
IDA
protein:increased serine phosphorylation:cholangiocyte
RGD
PMID:24498161
RGD:10040950
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
mRNA:increased expression:kidney (mouse)
RGD
PMID:3479800
RGD:7207453
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Nek1
NIMA-related kinase 1
ISS
OMIM:263200
MouseDO
NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
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Nek8
NIMA-related kinase 8
ISS
OMIM:263200
MouseDO
NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143
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Nphp3
nephrocystin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12089381
NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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Panx1
Pannexin 1
IEP
RGD
PMID:31630543
RGD:14995937
NCBI chr 8:13,567,185...13,606,040
Ensembl chr 8:13,566,739...13,606,040
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
IEP
protein:increased expression:cholangiocyte
RGD
PMID:24498161
RGD:10040950
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO ISS
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease OMIM:263200
ClinVar MouseDO
PMID:10729710 PMID:11115377 PMID:11967008 PMID:17574468 PMID:17582161 PMID:19515475 PMID:21551026 PMID:22031115 PMID:22508176 PMID:23431072 PMID:24374109 PMID:25333066 PMID:25741868 PMID:26453610 PMID:26467025 PMID:26632257 PMID:27782177 PMID:29100090 PMID:29338003
NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
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Pkd2
polycystin 2, transient receptor potential cation channel
ISO
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
ClinVar
PMID:12707387 PMID:25741868 PMID:28492532 PMID:29529603 PMID:30333007
NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
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Pkhd1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
susceptibility severity
ISO IAGP IEP
DNA:missense mutations, nonsense mutations: :multiple ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I DNA:missense mutations:cds: DNA:deletion:exon: ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE ClinVar Annotator: match by OMIM:263200 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 DNA:splice site mutation:intron:IVS35-2A>T protein:decreased expression:kidney
ClinVar CTD
PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:12925574 PMID:14741187 PMID:14971004 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16523049 PMID:16632497 PMID:16876319 PMID:18414213 PMID:18503009 PMID:18988797 PMID:19021639 PMID:19176689 PMID:19524688 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:20460933 PMID:20575693 PMID:21228398 PMID:21274727 PMID:21493627 PMID:21685914 PMID:21790888 PMID:21945273 PMID:22034641 PMID:22995991 PMID:23265383 PMID:23389334 PMID:23582048 PMID:23757202 PMID:24033266 PMID:24121792 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25114813 PMID:25124979 PMID:25153916 PMID:25193386 PMID:25326637 PMID:25525159 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25771912 PMID:25966130 PMID:26139440 PMID:26385851 PMID:26489027 PMID:26489029 PMID:26633542 PMID:26673778 PMID:26695994 PMID:26721323 PMID:27151922 PMID:27225849 PMID:27491411 PMID:27577217 PMID:27595491 PMID:27752906 PMID:27894351 PMID:28170084 PMID:28375157 PMID:28492532 PMID:28578020 PMID:28851938 PMID:28862642 PMID:28933340 PMID:29520754 PMID:29643536 PMID:29801666 PMID:29956005 PMID:30507656 PMID:30510609 PMID:30566001 PMID:30650191 PMID:31395954 PMID:32576985 , PMID:11919560 , PMID:12874454 , PMID:17519956 , PMID:11919560 , PMID:14983006
RGD:70439 , RGD:11062506 , RGD:14700917 , RGD:70439 , RGD:1642441
NCBI chr 9:26,164,969...26,736,704
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Pkhd1pck
polycystic kidney and hepatic disease 1,polycystic kidney disease
IAGP
RGD
PMID:11919560
RGD:70439
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Sclt1
sodium channel and clathrin linker 1
ISS
OMIM:263200
MouseDO
NCBI chr 2:128,523,376...128,675,668
Ensembl chr 2:128,523,636...128,675,408
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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
PMID:18988797 , PMID:18988797
RGD:2307071
NCBI chr 4:7,264,677...7,282,355
Ensembl chr 4:7,264,683...7,281,223
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18385429
NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:30705305 , PMID:11095650 , PMID:15052665
RGD:14995942 , RGD:1300514 , RGD:15014788
NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305 , PMID:11095650 , PMID:15052665
RGD:14995942 , RGD:1300514 , RGD:15014788
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Tsc1
TSC complex subunit 1
ISS
OMIM:263200
MouseDO
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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Alg9
ALG9, alpha-1,2-mannosyltransferase
ISO
ClinVar Annotator: match by term: Gillessen-kaesbach-nishimura syndrome
ClinVar OMIM
PMID:25741868 PMID:25966638
NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
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Pkhd1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
ISO
ClinVar Annotator: match by term: Polycystic kidney disease 4 ClinVar Annotator: match by term: Abnormality of the intrahepatic bile duct ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
OMIM ClinVar
PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:12925574 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15805161 PMID:16133180 PMID:16199545 PMID:19914852 PMID:19940839 PMID:20413436 PMID:21274727 PMID:23582048 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25124979 PMID:25701400 PMID:25741868 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28375157 PMID:28492532 PMID:28578020 PMID:29956005
NCBI chr 9:26,164,969...26,736,704
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Dzip1l
DAZ interacting zinc finger protein 1-like
ISO
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 5
ClinVar OMIM
PMID:28530676
NCBI chr 8:107,875,659...107,916,298
Ensembl chr 8:107,875,991...107,916,294
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