Human Phenotype Ontology 
Grandparent Node:
expandAbnormal renal morphology (HP:0012210)help
Parent Node:
expandAbnormal tubulointerstitial morphology (HP:0001969)help
Parent Node:
expandRenal fibrosis (HP:0030760)help
..Starting node
..expandTubulointerstitial fibrosis (HP:0005576)help
Term ID: 5576
Name: Tubulointerstitial fibrosis
Synonym: Tubulointerstitial renal fibrosis; Tubulointerstitial scarring
Definition: A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy.
Comments:
Reference: HP:0005576
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005576HP:0005576Tubulointerstitial fibrosis0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0005576HP:0005576Tubulointerstitial fibrosis0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0005576HP:0005576Tubulointerstitial fibrosis0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0005576HP:0005576Tubulointerstitial fibrosis0CLCN5 CL E G H11842023OMIM:310468Nephrolithiasis, type I.112
HP:0005576HP:0005576Tubulointerstitial fibrosis0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0005576HP:0005576Tubulointerstitial fibrosis0MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 2.1
HP:0005576HP:0005576Tubulointerstitial fibrosis0NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0005576HP:0005576Tubulointerstitial fibrosis0NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 1.85
HP:0005576HP:0005576Tubulointerstitial fibrosis0NPHP1 CL E G H48677905OMIM:266900Senior-Loken syndrome 185
HP:0005576HP:0005576Tubulointerstitial fibrosis0NPHP3 CL E G H270317907OMIM:604387Nephronophthisis 3.157
HP:0005576HP:0005576Tubulointerstitial fibrosis0NPHP4 CL E G H26173419104OMIM:606966Nephronophthisis 4.220
HP:0005576HP:0005576Tubulointerstitial fibrosis0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0005576HP:0005576Tubulointerstitial fibrosis0PTPRO CL E G H58009678OMIM:614196Nephrotic syndrome, type 6.2
HP:0005576HP:0005576Tubulointerstitial fibrosis0REN CL E G H59729958OMIM:613092Hyperuricemic nephropathy, familial juvenile, 2.25
HP:0005576HP:0005576Tubulointerstitial fibrosis0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040283 - Occasional110


Genes (14) :ACP5 ANTXR1 BSND CLCN5 GBE1 MUC1 NDUFAF6 NPHP1 NPHP3 NPHP4 PKHD1 PTPRO REN SLC37A4

Diseases (15) :OMIM:607944 OMIM:230740 OMIM:602522 OMIM:310468 OMIM:232500 OMIM:174000 OMIM:618913 OMIM:256100 OMIM:266900 OMIM:604387 OMIM:606966 OMIM:263200 OMIM:614196 OMIM:613092 ORPHA:79259
 

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