Human Phenotype
Ontology
Grandparent Node: Abnormal nephron morphology (HP:0012575) Parent Node: Abnormal renal tubule morphology (HP:0000091) ..Starting node Renal tubular atrophy (HP:0000092)
Term ID: 92
Name: Renal tubular atrophy
Synonym: Renal tubular cell atrophy; Tubular atrophy
Definition: The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
Comments:
Reference: HP:0000092
Genes and Diseases: Child Nodes: Sister Nodes: ..Abnormal tubulointerstitial morphology (HP:0001969) ..Proximal tubulopathy (HP:0000114) ..Renal tubular epithelial necrosis (HP:0008682) ..Renotubular dysgenesis (HP:0008660) ..Tubular basement membrane disintegration (HP:0005583) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0000092 HP:0000092 Renal tubular atrophy 0 CEP83 CL E G H 51134 17966 OMIM:615862 Nephronophthisis 18 . 10 HP:0000092 HP:0000092 Renal tubular atrophy 0 CLCN5 CL E G H 1184 2023 OMIM:310468 Nephrolithiasis, type I . 112 HP:0000092 HP:0000092 Renal tubular atrophy 0 CLCN5 CL E G H 1184 2023 OMIM:308990 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis . 112 HP:0000092 HP:0000092 Renal tubular atrophy 0 GLIS2 CL E G H 84662 29450 OMIM:611498 NEPHRONOPHTHISIS 7; NPHP7 83 HP:0000092 HP:0000092 Renal tubular atrophy 0 ITGA3 CL E G H 3675 6139 OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital . 6 HP:0000092 HP:0000092 Renal tubular atrophy 0 MUC1 CL E G H 4582 7508 OMIM:174000 Tubulointerstitial kidney disease, autosomal dominant, 2 . 1 HP:0000092 HP:0000092 Renal tubular atrophy 0 MYO1E CL E G H 4643 7599 OMIM:614131 Focal segmental glomerulosclerosis 6 . 3 HP:0000092 HP:0000092 Renal tubular atrophy 0 NPHP1 CL E G H 4867 7905 OMIM:256100 Nephronophthisis 1 . 85 HP:0000092 HP:0000092 Renal tubular atrophy 0 NPHP3 CL E G H 27031 7907 OMIM:604387 Nephronophthisis 3 . 157 HP:0000092 HP:0000092 Renal tubular atrophy 0 NPHP4 CL E G H 261734 19104 OMIM:606966 Nephronophthisis 4 . 220 HP:0000092 HP:0000092 Renal tubular atrophy 0 NPHS1 CL E G H 4868 7908 OMIM:256300 Nephrotic syndrome, type 1 . 241 HP:0000092 HP:0000092 Renal tubular atrophy 0 NUP107 CL E G H 57122 29914 OMIM:618348 Galloway-Mowat syndrome 7 . 5 HP:0000092 HP:0000092 Renal tubular atrophy 0 NUP107 CL E G H 57122 29914 OMIM:616730 Nephrotic syndrome, type 11 . 5 HP:0000092 HP:0000092 Renal tubular atrophy 0 NUP133 CL E G H 55746 18016 OMIM:618349 Galloway-Mowat syndrome 8 . 1 HP:0000092 HP:0000092 Renal tubular atrophy 0 REN CL E G H 5972 9958 OMIM:613092 Hyperuricemic nephropathy, familial juvenile, 2 . 25 HP:0000092 HP:0000092 Renal tubular atrophy 0 RPGRIP1L CL E G H 23322 29168 OMIM:619113 COACH SYNDROME 3; COACH3 167 HP:0000092 HP:0000092 Renal tubular atrophy 0 TMEM67 CL E G H 91147 28396 OMIM:613550 NEPHRONOPHTHISIS 11; NPHP11 166 HP:0000092 HP:0000092 Renal tubular atrophy 0 UMOD CL E G H 7369 12559 OMIM:162000 Hyperuricemic nephropathy, familial juvenile, 1 . 66 HP:0000092 HP:0000092 Renal tubular atrophy 0 VPS33A CL E G H 65082 18179 OMIM:617303 Mucopolysaccharidosis-Plus syndrome 1 HP:0000092 HP:0000092 Renal tubular atrophy 0 VPS33B CL E G H 26276 12712 OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1 63 HP:0000092 HP:0000092 Renal tubular atrophy 0 XPNPEP3 CL E G H 63929 28052 OMIM:613159 Nephronophthisis-Like nephropathy 1 . 109 HP:0000092 HP:0032952 Usual-type tubular atrophy 1 CL E G H HP:0000092 HP:0032609 Endocrine-type tubular atrophy 1 CL E G H HP:0000092 HP:0032608 Thyroidization-type tubular atrophy 1 CL E G H
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
