Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the kidney (HP:0000077)help
Grandparent Node:
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Abnormality of the urinary system physiology (HP:0011277)help
Parent Node:
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Abnormal renal physiology (HP:0012211)help
..Starting node
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Abnormal glomerular filtration rate (HP:0012212)help
Term ID: 12212
Name: Abnormal glomerular filtration rate
Synonym: Abnormal GFR
Definition: An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
Comments:
Reference: HP:0012212
Genes and Diseases:
 
       Child Nodes:
........expandDecreased glomerular filtration rate (HP:0012213) help
........expandIncreased glomerular filtration rate (HP:0012214) help

 Sister Nodes: 
..expandAbnormal renal tubular resorption (HP:0011038) help
..expandAbnormality of renal excretion (HP:0011036) help
..expandElevated alkaline phosphatase of renal origin (HP:0010680) help
..expandHematuria (HP:0000790) help
..expandHemolytic-uremic syndrome (HP:0005575) help
..expandImpaired urinary acidification (HP:0031033) help
..expandIsothenuria (HP:0030036) help
..expandLow alkaline phosphatase of renal origin (HP:0010685) help
..expandNephritis (HP:0000123) help
..expandNephropathy (HP:0000112) help
..expandNephrotic syndrome (HP:0000100) help
..expandRenal insufficiency (HP:0000083) help
..expandRenal tubular dysfunction (HP:0000124) help
..expandRenovascular hypertension (HP:0100817) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012212HP:0012212Abnormal glomerular filtration rate0AGXT CL E G H189341ORPHA:93598Primary hyperoxaluria type 1260
HP:0012212HP:0012212Abnormal glomerular filtration rate0ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney disease
HP:0012212HP:0012212Abnormal glomerular filtration rate0ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney disease93
HP:0012212HP:0012212Abnormal glomerular filtration rate0BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney disease5
HP:0012212HP:0012212Abnormal glomerular filtration rate0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness53
HP:0012212HP:0012212Abnormal glomerular filtration rate0CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0012212HP:0012212Abnormal glomerular filtration rate0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness9
HP:0012212HP:0012212Abnormal glomerular filtration rate0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness27
HP:0012212HP:0012212Abnormal glomerular filtration rate0CYB561 CL E G H15342571OMIM:618182Orthostatic hypotension 2
HP:0012212HP:0012212Abnormal glomerular filtration rate0DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney disease
HP:0012212HP:0012212Abnormal glomerular filtration rate0DNAJB11 CL E G H5172614889OMIM:618061Polycystic kidney disease 6 with or without polycystic liver disease
HP:0012212HP:0012212Abnormal glomerular filtration rate0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia
HP:0012212HP:0012212Abnormal glomerular filtration rate0GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney disease6
HP:0012212HP:0012212Abnormal glomerular filtration rate0HGD CL E G H30814892OMIM:203500Alkaptonuria77
HP:0012212HP:0012212Abnormal glomerular filtration rate0IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney disease148
HP:0012212HP:0012212Abnormal glomerular filtration rate0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0012212HP:0012212Abnormal glomerular filtration rate0MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 21
HP:0012212HP:0012212Abnormal glomerular filtration rate0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0012212HP:0012212Abnormal glomerular filtration rate0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0012212HP:0012212Abnormal glomerular filtration rate0PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney disease342
HP:0012212HP:0012212Abnormal glomerular filtration rate0PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney disease106
HP:0012212HP:0012212Abnormal glomerular filtration rate0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1
HP:0012212HP:0012212Abnormal glomerular filtration rate0SLC22A12 CL E G H11608517989ORPHA:94088Hereditary renal hypouricemia56
HP:0012212HP:0012212Abnormal glomerular filtration rate0SLC2A9 CL E G H5660613446ORPHA:94088Hereditary renal hypouricemia57
HP:0012212HP:0012212Abnormal glomerular filtration rate0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib110
HP:0012212HP:0012212Abnormal glomerular filtration rate0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic110
HP:0012212HP:0012212Abnormal glomerular filtration rate0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intolerance104
HP:0012212HP:0012212Abnormal glomerular filtration rate0UMOD CL E G H736912559OMIM:162000Hyperuricemic nephropathy, familial juvenile, 166
HP:0012212HP:0012214Increased glomerular filtration rate1 CL E G H
HP:0012212HP:0012213Decreased glomerular filtration rate1AGXT CL E G H189341ORPHA:93598Primary hyperoxaluria type 1HP:0040282 - Frequent260
HP:0012212HP:0012213Decreased glomerular filtration rate1ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent
HP:0012212HP:0012213Decreased glomerular filtration rate1ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent93
HP:0012212HP:0012213Decreased glomerular filtration rate1BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent5
HP:0012212HP:0012213Decreased glomerular filtration rate1BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0012212HP:0012213Decreased glomerular filtration rate1CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0012212HP:0012213Decreased glomerular filtration rate1CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0012212HP:0012213Decreased glomerular filtration rate1CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0012212HP:0012213Decreased glomerular filtration rate1CYB561 CL E G H15342571OMIM:618182Orthostatic hypotension 2.
HP:0012212HP:0012213Decreased glomerular filtration rate1DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent
HP:0012212HP:0012213Decreased glomerular filtration rate1DNAJB11 CL E G H5172614889OMIM:618061Polycystic kidney disease 6 with or without polycystic liver disease.
HP:0012212HP:0012213Decreased glomerular filtration rate1G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0012212HP:0012213Decreased glomerular filtration rate1GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent6
HP:0012212HP:0012213Decreased glomerular filtration rate1HGD CL E G H30814892OMIM:203500Alkaptonuria77
HP:0012212HP:0012213Decreased glomerular filtration rate1IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent148
HP:0012212HP:0012213Decreased glomerular filtration rate1ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0012212HP:0012213Decreased glomerular filtration rate1MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 2.1
HP:0012212HP:0012213Decreased glomerular filtration rate1PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0012212HP:0012213Decreased glomerular filtration rate1PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0012212HP:0012213Decreased glomerular filtration rate1PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent342
HP:0012212HP:0012213Decreased glomerular filtration rate1PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent106
HP:0012212HP:0012213Decreased glomerular filtration rate1PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040282 - Frequent1
HP:0012212HP:0012213Decreased glomerular filtration rate1SLC22A12 CL E G H11608517989ORPHA:94088Hereditary renal hypouricemiaHP:0040283 - Occasional56
HP:0012212HP:0012213Decreased glomerular filtration rate1SLC2A9 CL E G H5660613446ORPHA:94088Hereditary renal hypouricemiaHP:0040283 - Occasional57
HP:0012212HP:0012213Decreased glomerular filtration rate1SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0012212HP:0012213Decreased glomerular filtration rate1SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0012212HP:0012213Decreased glomerular filtration rate1SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0012212HP:0012213Decreased glomerular filtration rate1UMOD CL E G H736912559OMIM:162000Hyperuricemic nephropathy, familial juvenile, 166


Genes (26) :AGXT ALG5 ALG9 BICC1 BSND CASR CLCNKA CLCNKB CYB561 DNAJB11 G6PC1 GANAB HGD IFT140 ITGA3 MUC1 PAX2 PBX1 PKD1 PKD2 PUS3 SLC22A12 SLC2A9 SLC37A4 SLC7A7 UMOD

Diseases (18) :ORPHA:93598 ORPHA:730 OMIM:602522 OMIM:601198 OMIM:613090 OMIM:618182 OMIM:618061 OMIM:232200 OMIM:203500 OMIM:614748 OMIM:174000 ORPHA:97362 ORPHA:488627 ORPHA:94088 OMIM:232220 OMIM:232240 ORPHA:470 OMIM:162000
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.