Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal renal physiology (HP:0012211)

Parent Node:
Acidosis (HP:0001941)

Parent Node:
Renal tubular dysfunction (HP:0000124)

..Starting node
..Renal tubular acidosis (HP:0001947)

Term ID:

1947

Name:

Renal tubular acidosis

Synonym:

Accumulation of acid in body due to kidney problem

Definition:

Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.

Comments:

Reference:

HP:0001947

Genes and Diseases:

Child Nodes:

........

Proximal renal tubular acidosis (HP:0002049)

........

Bicarbonate-wasting renal tubular acidosis (HP:0004910)

........

Distal renal tubular acidosis (HP:0008341)

................... HP:0004916 Generalized distal tubular acidosis

Sister Nodes:

Impaired histidine renal tubular absorption (HP:0008666)

Renal tubular lysine transport defect (HP:0008272)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001947	HP:0001947	Renal tubular acidosis	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0001947	HP:0001947	Renal tubular acidosis	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0001947	HP:0001947	Renal tubular acidosis	0	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness	.	67
HP:0001947	HP:0001947	Renal tubular acidosis	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome		72
HP:0001947	HP:0001947	Renal tubular acidosis	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001947	HP:0001947	Renal tubular acidosis	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3		29
HP:0001947	HP:0001947	Renal tubular acidosis	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.	10
HP:0001947	HP:0001947	Renal tubular acidosis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001947	HP:0001947	Renal tubular acidosis	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0001947	HP:0001947	Renal tubular acidosis	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001947	HP:0001947	Renal tubular acidosis	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0001947	HP:0001947	Renal tubular acidosis	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040283 - Occasional	99
HP:0001947	HP:0001947	Renal tubular acidosis	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0001947	HP:0001947	Renal tubular acidosis	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0001947	HP:0001947	Renal tubular acidosis	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis		178
HP:0001947	HP:0001947	Renal tubular acidosis	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0001947	HP:0001947	Renal tubular acidosis	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0001947	HP:0001947	Renal tubular acidosis	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040282 - Frequent	40
HP:0001947	HP:0001947	Renal tubular acidosis	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0001947	HP:0001947	Renal tubular acidosis	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional	384
HP:0001947	HP:0001947	Renal tubular acidosis	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0001947	HP:0001947	Renal tubular acidosis	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0001947	HP:0001947	Renal tubular acidosis	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0001947	HP:0001947	Renal tubular acidosis	0	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney		90
HP:0001947	HP:0001947	Renal tubular acidosis	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0001947	HP:0001947	Renal tubular acidosis	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0001947	HP:0001947	Renal tubular acidosis	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent	5
HP:0001947	HP:0001947	Renal tubular acidosis	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0001947	HP:0001947	Renal tubular acidosis	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0001947	HP:0001947	Renal tubular acidosis	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0001947	HP:0001947	Renal tubular acidosis	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0001947	HP:0001947	Renal tubular acidosis	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0001947	HP:0001947	Renal tubular acidosis	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0001947	HP:0001947	Renal tubular acidosis	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0001947	HP:0001947	Renal tubular acidosis	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0001947	HP:0001947	Renal tubular acidosis	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0001947	HP:0001947	Renal tubular acidosis	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0001947	HP:0001947	Renal tubular acidosis	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	54
HP:0001947	HP:0001947	Renal tubular acidosis	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0001947	HP:0001947	Renal tubular acidosis	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	48
HP:0001947	HP:0001947	Renal tubular acidosis	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0001947	HP:0001947	Renal tubular acidosis	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0001947	HP:0001947	Renal tubular acidosis	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0001947	HP:0001947	Renal tubular acidosis	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0001947	HP:0001947	Renal tubular acidosis	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0001947	HP:0001947	Renal tubular acidosis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001947	HP:0001947	Renal tubular acidosis	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent	71
HP:0001947	HP:0001947	Renal tubular acidosis	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0001947	HP:0001947	Renal tubular acidosis	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	.	109
HP:0001947	HP:0001947	Renal tubular acidosis	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia		109
HP:0001947	HP:0001947	Renal tubular acidosis	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0001947	HP:0001947	Renal tubular acidosis	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0001947	HP:0001947	Renal tubular acidosis	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0001947	HP:0001947	Renal tubular acidosis	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001947	HP:0001947	Renal tubular acidosis	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001947	HP:0001947	Renal tubular acidosis	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001947	HP:0001947	Renal tubular acidosis	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0001947	HP:0001947	Renal tubular acidosis	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0001947	HP:0001947	Renal tubular acidosis	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent	72
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent	178
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney	HP:0040282 - Frequent	90
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent	88
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040284 - Very rare	46
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0001947	HP:0008341	Distal renal tubular acidosis	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia		109
HP:0001947	HP:0004910	Bicarbonate-wasting renal tubular acidosis	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.	89
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.	89
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001947	HP:0001994	Renal Fanconi syndrome	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001947	HP:0002049	Proximal renal tubular acidosis	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.	7
HP:0001947	HP:0004916	Generalized distal tubular acidosis	2	CL E G H

Genes (51) :ALDOB ATP6V0A4 ATP6V1B1 BCS1L CA2 CAD CLCNKB CLDN16 COA8 COQ2 CPT1A CTNS EHHADH EPG5 FAH FBXL4 GATA3 GATM HNF1B HNF4A JAG1 KYNU NADK2 NDUFAF3 NDUFAF6 NDUFB8 NDUFS2 NOTCH2 OCRL PC PDSS2 PHKA2 PHKB PHKG2 PIGA POLRMT RMND1 RRM2B SCO2 SLC12A3 SLC2A2 SLC34A1 SLC4A1 SLC4A4 SURF1 TAOK1 TRNN TRNS1 UQCC2 VIPAS39 VPS33B

Diseases (47) :OMIM:229600 OMIM:602722 OMIM:267300 ORPHA:53693 ORPHA:2785 OMIM:259730 OMIM:616457 ORPHA:358 OMIM:248250 ORPHA:436271 ORPHA:255249 ORPHA:156 OMIM:255120 OMIM:219800 ORPHA:411629 ORPHA:411634 ORPHA:3337 ORPHA:1493 OMIM:276700 OMIM:615471 OMIM:146255 ORPHA:93111 ORPHA:1309 ORPHA:263455 OMIM:118450 ORPHA:79155 ORPHA:431361 ORPHA:70474 OMIM:610205 OMIM:309000 ORPHA:534 OMIM:266150 ORPHA:264580 ORPHA:79240 ORPHA:447 OMIM:619743 OMIM:614922 OMIM:268315 ORPHA:2088 OMIM:179800 OMIM:611590 OMIM:604278 OMIM:220110 OMIM:619575 OMIM:615824 OMIM:613404 OMIM:208085

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

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