Renal Tubular Acidosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GARD: ¹⁹ A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.

MalaCards based summary: Renal Tubular Acidosis, also known as idiopathic infantile hypercalcemia - mild form, is related to renal tubular acidosis, distal, 4, with hemolytic anemia and distal renal tubular acidosis. An important gene associated with Renal Tubular Acidosis is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters. The drugs Potassium citrate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and liver, and related phenotypes are homeostasis/metabolism and renal/urinary system

Disease Ontology: ¹¹ A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine.

Wikipedia: ⁷⁵ Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body... more...

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Related Diseases for Renal Tubular Acidosis

Diseases in the Renal Tubular Acidosis family:

Renal Tubular Acidosis Iii

Primary Renal Tubular Acidosis

Diseases related to Renal Tubular Acidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 556)

#	Related Disease	Score	Top Affiliating Genes
1	renal tubular acidosis, distal, 4, with hemolytic anemia	33.3	WDR72 SLC4A1
2	distal renal tubular acidosis	33.2	WDR72 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
3	renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	33.2	WDR72 SLC4A1 FOXI1 ATP6V1B1 ATP6V0A4
4	osteopetrosis, autosomal recessive 3	33.1	SLC4A4 SLC4A1 CA4 CA2 ATP6V1B1 ATP6V0A4
5	distal renal tubular acidosis with hemolytic anemia	33.1	WDR72 SLC4A1
6	nephrocalcinosis	32.1	SLC4A1 SLC12A1 OCRL CLCN5 CA2 ATP6V1B1
7	metabolic acidosis	31.9	SLC4A4 SLC4A1 REN CA2 ATP6V1B1 ATP6V0A4
8	hypokalemia	31.8	SLC26A4 SLC12A1 REN ATP6V1B1
9	rickets	31.7	PTH OCRL CLCN5
10	sensorineural hearing loss	31.3	SLC26A4 SLC12A1 FOXI1 ATP6V1B1 ATP6V0A4
11	nephrolithiasis	31.3	SLC4A1 SLC12A1 PTH CLCN5 ATP6V1B1 ATP6V0A4
12	medullary sponge kidney	31.3	ATP6V1B1 ATP6V0A4
13	hereditary elliptocytosis	31.2	SLC4A1 OSGEP CA2 ATP6V1B1 ATP6V0A4
14	hypophosphatemia	31.2	PTH OCRL CLCN5
15	hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	31.2	SLC4A4 SLC12A1
16	aminoaciduria	31.2	OCRL CLCN5 B2M
17	fanconi syndrome	31.2	SLC4A4 PTH OCRL CLCN5 B2M ATP6V1B1
18	nephrogenic diabetes insipidus	31.2	SLC12A1 REN PTH
19	corneal dystrophy, band-shaped	31.0	SLC4A7 SLC4A4 CA2
20	deafness, autosomal recessive 4, with enlarged vestibular aqueduct	30.8	SLC26A4 FOXI1 ATP6V1B1
21	hydronephrosis	30.7	SLC12A1 REN B2M
22	chronic pyelonephritis	30.6	REN PTH B2M
23	intraocular pressure quantitative trait locus	30.6	SLC4A4 CA4 CA2
24	bartter disease	30.5	SLC26A4 SLC12A7 SLC12A1 REN PTH CLCN5
25	osteopetrosis, autosomal recessive 1	30.5	ATP6V1B1 ATP6V0A4
26	kidney disease	30.4	SLC12A1 REN PTH CLCN5 CA2 B2M
27	alport syndrome	30.4	REN OCRL CLCN5
28	dent disease 1	30.4	SLC12A1 OCRL CLCN5 ATP6V1B1
29	osteitis fibrosa	30.3	PTH B2M
30	liddle syndrome 1	30.2	SLC26A4 SLC12A1 REN
31	uremia	29.9	REN PTH B2M
32	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	12.2
33	slc4a1-associated distal renal tubular acidosis	12.0
34	renal tubular acidosis, distal, 1	12.0
35	renal tubular acidosis, proximal	11.9
36	renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	11.9
37	primary renal tubular acidosis	11.6
38	renal tubular acidosis iii	11.6
39	hereditary distal renal tubular acidosis	11.5
40	autosomal dominant proximal renal tubular acidosis	11.5
41	neuroaxonal dystrophy renal tubular acidosis	11.4
42	say syndrome	11.3
43	dent disease 2	11.3
44	lowe oculocerebrorenal syndrome	11.3
45	glomerulopathy with fibronectin deposits 2	11.3
46	primary tubular proximal acidosis	11.3
47	renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies	11.3
48	hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	11.2
49	amelogenesis imperfecta, type ig	11.2
50	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1	11.2

Graphical network of the top 20 diseases related to Renal Tubular Acidosis:

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Symptoms & Phenotypes for Renal Tubular Acidosis

GenomeRNAi Phenotypes related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.19	ATP6V0A4 ATP6V1B1 B2M CA2 CA4 CLCN5
2	no effect	GR00402-S-2	10.19	ATP6V0A4 ATP6V1B1 B2M CA2 CA4 CLCN5

MGI Mouse Phenotypes related to Renal Tubular Acidosis:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.28	ATP6V0A4 ATP6V1B1 B2M CA2 CA4 CLCN5
2	renal/urinary system	MP:0005367	10.24	ATP6V0A4 ATP6V1B1 CA2 CLCN5 FOXI1 OCRL
3	growth/size/body region	MP:0005378	10.06	ATP6V0A4 ATP6V1B1 B2M CA2 CA4 CLCN5
4	hearing/vestibular/ear	MP:0005377	9.73	ATP6V0A4 ATP6V1B1 FOXI1 SLC12A7 SLC26A4 SLC4A7
5	skeleton	MP:0005390	9.7	ATP6V0A4 ATP6V1B1 CA2 CLCN5 FOXI1 PTH
6	mortality/aging	MP:0010768	9.47	ATP6V0A4 B2M CA2 CA4 FOXI1 OCRL

Sources

Drugs & Therapeutics for Renal Tubular Acidosis

Drugs for Renal Tubular Acidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Potassium citrate

Approved, Investigational, Vet_approved

Phase 3

866-84-2

2

Sodium citrate

Approved, Investigational

Phase 3

68-04-2

23431961

3

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 3

77-92-9

311

4

Expectorants

Phase 3

5

Respiratory System Agents

Phase 3

6

Citrate

Phase 3

7

diuretics

Phase 3

8

Rifampicin

Approved

Phase 2

13292-46-1

135512673 5381226 135900090

9

Calcium, Dietary

Phase 2

10

Anti-Bacterial Agents

Phase 2

11

Anti-Infective Agents

Phase 2

12

Antitubercular Agents

Phase 2

13

Antibiotics, Antitubercular

Phase 2

14

Calcium

Nutraceutical

Phase 2

7440-70-2

271

15

Carbamide peroxide

Approved

124-43-6

16

Topiramate

Approved

97240-79-4

5284627

Synonyms:

[(1R,2S,6S,9R)-4,4,11,11-TETRAMETHYL-3,5,7,10,12-PENTAOXATRICYCLO[7.3.0.0^{2,6}]DODECAN-6-YL]METHYL SULFAMATE

2,3:4,5-Bis-O-(1-methylethylidene)-b-D-fructopyranose sulfamate

2,3:4,5-Bis-O-(1-methylethylidene)-b-D-fructopyranose sulfamic acid

2,3:4,5-Bis-O-(1-methylethylidene)-b-D-fructopyranose sulphamate

2,3:4,5-Bis-O-(1-methylethylidene)-b-D-fructopyranose sulphamic acid

2,3:4,5-Bis-O-(1-methylethylidene)-beta-D-fructopyranose sulfamate

2,3:4,5-Bis-O-(1-methylethylidene)-beta-D-fructopyranose sulfamic acid

2,3:4,5-Bis-O-(1-methylethylidene)-beta-D-fructopyranose sulphamate

2,3:4,5-Bis-O-(1-methylethylidene)-beta-D-fructopyranose sulphamic acid

2,3:4,5-Bis-O-(1-methylethylidene)-β-D-fructopyranose sulfamate

2,3:4,5-Bis-O-(1-methylethylidene)-β-D-fructopyranose sulfamic acid

2,3:4,5-Bis-O-(1-methylethylidene)-β-D-fructopyranose sulphamate

2,3:4,5-Bis-O-(1-methylethylidene)-β-D-fructopyranose sulphamic acid

2,3:4,5-Di-O-isopropylidene-b-D-fructopyranose sulfamate

2,3:4,5-Di-O-isopropylidene-b-D-fructopyranose sulfamic acid

2,3:4,5-Di-O-isopropylidene-b-D-fructopyranose sulphamate

2,3:4,5-Di-O-isopropylidene-b-D-fructopyranose sulphamic acid

2,3:4,5-Di-O-isopropylidene-beta-D-fructopyranose sulfamate

2,3:4,5-Di-O-isopropylidene-beta-D-fructopyranose sulfamic acid

2,3:4,5-Di-O-isopropylidene-beta-D-fructopyranose sulphamate

2,3:4,5-Di-O-isopropylidene-beta-D-fructopyranose sulphamic acid

2,3:4,5-Di-O-isopropylidene-β-D-fructopyranose sulfamate

2,3:4,5-Di-O-isopropylidene-β-D-fructopyranose sulfamic acid

2,3:4,5-Di-O-isopropylidene-β-D-fructopyranose sulphamate

2,3:4,5-Di-O-isopropylidene-β-D-fructopyranose sulphamic acid

2,3-4,5-Bis-O-(1-methylethylidene)-beta-D-fructopyranose sulfamate

Epitomax

epitomax|Eprontia® (liquid formulation)|MCN-4853|RWJ-17021|Topamax®

MCN-4853

QUDEXY XR

RWJ-17021

RWJ-17021-000

Tipiramate

Tipiramate [French]

Tipiramato

Tipiramato [Spanish]

Tipiramic acid

Topamax

Topamax sprinkle

TOPIRAMATE

topiramate tablet

Topiramato

Topiramato [INN-Spanish]

Topiramatum

Topiramatum [INN-Latin]

Topiramic acid

Topomax

TPM

Trokendi XR

USL255

USL-255

17

Fludrocortisone

Approved, Investigational

127-31-1

31378

18

Furosemide

Approved, Vet_approved

54-31-9

3440

Synonyms:

2-Furfurylamino-4-chloro-5-sulfamoylbenzoate

2-Furfurylamino-4-chloro-5-sulfamoylbenzoic acid

2-Furfurylamino-4-chloro-5-sulphamoylbenzoate

2-Furfurylamino-4-chloro-5-sulphamoylbenzoic acid

4-Chloro-5-sulfamoyl-N-furfuryl-anthranilate

4-Chloro-5-sulfamoyl-N-furfuryl-anthranilic acid

4-Chloro-5-sulphamoyl-N-furfuryl-anthranilate

4-Chloro-5-sulphamoyl-N-furfuryl-anthranilic acid

4-Chloro-N-(2-furylmethyl)-5-sulfamoylanthranilate

4-Chloro-N-(2-furylmethyl)-5-sulfamoylanthranilic acid

4-Chloro-N-(2-furylmethyl)-5-sulphamoylanthranilate

4-Chloro-N-(2-furylmethyl)-5-sulphamoylanthranilic acid

4-Chloro-N-furfuryl-5-sulfamoylanthranilate

4-Chloro-N-furfuryl-5-sulfamoylanthranilic acid

4-Chloro-N-furfuryl-5-sulphamoylanthranilate

4-Chloro-N-furfuryl-5-sulphamoylanthranilic acid

Acetic acid potassium salt

Aisemide

Aldalix

Aldic

Aluzine

ALUZINE 20

ALUZINE 40

ALUZINE 500

Anfuramaide

Apo-frusemide

Apo-furosemide

AQUAMED

Aquarid

Aquasin

Arasemide

Beronald

Bioretic

Bristab

Bristurin

Cetasix

Depix

Desal

Desdemin

Di-Ademil

DIHYDROFLUMETHIAZIDE

dihydroflumethiazide|frusemide|Lasix®|methforylthiazidine

Dirine

Disal

Discoid

Disemide

Diucardin

Diumide-K

Diural

Diurapid

DIURESAL

Diuretic salt

Diurin

Diurolasa

Diusemide

Diusil

Diuzol

Dranex

Dryptal

Durafurid

Edemid

Edenol

Eliur

Elodrine

Endural

Errolon

Eutensin

Farsix

Finuret

Fluidrol

Fluss

Franyl

FROOP

FRUMAX

Frumex

Frumide

Frumil

Frusedan

Frusema

Frusemid

Frusemide

Frusemin

Frusenex

Frusetic

Frusid

FRUSOL

Fulsix

Fuluvamide

Fuluvamine

Furanthril

Furanthryl

Furantral

Furantril

Furanturil

Furesis

Furetic

Furex

Furfan

Furix

Furmid

Furo-basan

Furobeta

Furocot

Furodiurol

Furodrix

Furomen

Furomex

Furomide m.d.

Furo-puren

Furorese

Furosan

Furose

Furosedon

Furosemid

Furosemida

Furosemida [INN-Spanish]

Furosemide

Furosemide "mita"

Furosemide monohydrochloride

Furosemide monosodium salt

Furosemidu

Furosemidu [Polish]

Furosemidum

Furosemidum [INN-Latin]

Furosemix

Furoside

Furosifar

Furosix

Furoter

Furovite

Fursemid

Fursemida

Fursemide

Fursol

Fusid

Fusidic acid

Golan

Hissuflux

Hydol

Hydrenox

Hydrex

Hydro

Hydroled

Hydro-rapid

Impugan

Jenafusid

Katlex

Kofuzon

Kolkin

Kutrix

Lasemid

Lasex

Lasiletten

Lasilix

Lasix

LASIX (TN)

LASIX RET

Lasix retard

Lasix Special

Laxur

Lazix

LB-502

Leodrine

Less diur

Liside

Logirene

Lowpston

Lowpstron

Luscek

Macasirool

Marsemide

Metflorylthiazidine

METHFORYLTHIAZIDINE

Mirfat

Mita

Moilarorin

Myrosemide

Nadis

Nelsix

Neo-renal

Nephron

Nicorol

Novosemide

NSC-269420

Octan draselny

Odemase

Odemex

Oedemex

Olmagran

Osyrol

Polysquall a

Prefemin

Profemin

Promedes

Promide

Protargen

Puresis

Radisemide

Radonna

Radouna

Retep

Rodiuran

Rontyl

Rosemide

Rosis

Rusyde

Sal diureticum

Salinex

Salix

Salix (brand OF furosemide)

Salurex

Salurid

Saluron

Seguril

Selectofur

Sigasalur

Sisuril

Spirofur

Synephron

TENKOFRUSE

Transit

Trofurit

Uremide

Uresix

Urex

Urex-m

Urian

Uridon

Uritol

Urosemide

Vergonil

Vesix

Yidoli

Zafimida

19

Sodium Potassium Chloride Symporter Inhibitors

20

Anti-Inflammatory Agents

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase 3B Open-Label Extension Of Study B23CS (ARENA 2) Evaluating The Continued Safety And Efficacy Of ADV7103 In Subjects With Primary Distal Renal Tubular Acidosis	Unknown status	NCT03831152	Phase 3	ADV7103
2	A Phase 3 Multicenter, Randomized, Double-Blinded, Placebo-Controlled Withdrawal Study Evaluating ADV7103 In Pediatric and Adult Subjects With Distal Renal Tubular Acidosis (dRTA)	Not yet recruiting	NCT03644706	Phase 3	ADV7103;Placebo
3	Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene	Recruiting	NCT03301038	Phase 2	Rifampin
4	Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Idiopathic Infantile Hypercalcemia	Recruiting	NCT03384121	Phase 1	Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
5	Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH)	Unknown status	NCT03268460
6	Renal Tubular Acidosis in Incident Renal Transplant Recipients	Unknown status	NCT01283880
7	Use of Sodium Bicarbonate to Alkalinize Serum/Urine in Pediatric Patients Treated With Topiramate (Pilot Study)	Unknown status	NCT03354507
8	Renal Tubular Acidosis is Highly Prevalent in Critically Ill Patients	Completed	NCT02392091
9	Mircera In Patients With CKD Stages III-IV Not On Dialysis: Observational, Non-interventional Cohort Study	Completed	NCT02490514
10	Comparison of Furosemide/Fludrocortisone With Ammonium Chloride Loading Test in the Diagnosis of Incomplete dRTA in Kidney Stone Formers	Completed	NCT01690039		Furosemide-Fludrocortisone-Test (test for urinary acidification)

Search NIH Clinical Center for Renal Tubular Acidosis

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

Citric Acid

CITRIC ACID GRANULES

citric acid monohydrate

Citric Acid, Anhydrous

CITRIC ACID,HYDROUS

CITRUS NARINGININE

Sodium Bicarbonate

SODIUM BICARBONATE PWDR

Cochrane evidence based reviews: acidosis, renal tubular

Sources

Genetic Tests for Renal Tubular Acidosis

Genetic tests related to Renal Tubular Acidosis:

#	Genetic test	Affiliating Genes
1	Renal Tubular Acidosis ²⁸

Sources

Anatomical Context for Renal Tubular Acidosis

Organs/tissues related to Renal Tubular Acidosis:

MalaCards : Kidney, Bone, Liver, Bone Marrow, Brain, Thyroid, Small Intestine

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Renal Tubular Acidosis:

#	Tissue Anatomical CompartmentCell	Relevance
1	Kidney Proximal Tubule Proximal Tubule Cells	Affected by disease, potential therapeutic candidate

Sources

Publications for Renal Tubular Acidosis

Articles related to Renal Tubular Acidosis:

(show top 50) (show all 2870)

#	Title	Authors	PMID	Year
1	Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene. ⁵³ ⁶²	Anacleto FE...Wrong O	20068363	2010
2	Carbonic anhydrase II deficiency a novel mutation. ⁵³ ⁶²	Nampoothiri S...Anikster Y	19556665	2009
3	Functional significance of channels and transporters expressed in the inner ear and kidney. ⁵³ ⁶²	Lang F...Wangemann P	17670895	2007
4	Carbonic anhydrase II in the developing and adult human brain. ⁵³ ⁶²	Kida E...Wisniewski KE	16825953	2006
5	Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. ⁵³ ⁶²	Lotan D...Anikster Y	16382316	2006
6	Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. ⁵³ ⁶²	Li HC...Soleimani M	15713912	2005
7	Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. ⁵³ ⁶²	Cotter M...McMahon C	15701991	2005
8	Dent Disease with mutations in OCRL1. ⁵³ ⁶²	Hoopes RR...Scheinman SJ	15627218	2005
9	Autoantibodies against carbonic anhydrase II are increased in renal tubular acidosis associated with Sjogren syndrome. ⁵³ ⁶²	Takemoto F...Uchida S	15694905	2005
10	Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. ⁵³ ⁶²	Shah GN...Sly WS	15300855	2004
11	Paralysis Episodes in Carbonic Anhydrase II Deficiency. ⁵³ ⁶²	Al-Ibrahim A...Al-Musallam S	17657093	2003
12	Rapid improvement of osteomalacia by treatment in a case with Sjögren's syndrome, rheumatoid arthritis and renal tubular acidosis type 1. ⁵³ ⁶²	Okada M...Ohsuzu F	11518137	2001
13	Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome. ⁵³ ⁶²	McMahon C...Smith OP	11264157	2001
14	Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. ⁵³ ⁶²	Tanphaichitr VS...Alper SL	9854053	1998
15	Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency. ⁵³ ⁶²	Repetto HA	9630052	1998
16	Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy. ⁵³ ⁶²	Lai LW...Lien YH	9525974	1998
17	Promoter activity of carbonic anhydrase II regulatory regions in cultured renal proximal tubular cells. ⁵³ ⁶²	Lai LW...Lien YH	9674946	1998
18	Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: pathogenesis of impaired acidification. ⁵³ ⁶²	Nagai R...Halperin ML	9323296	1997
19	Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. ⁵³ ⁶²	Bruce LJ...Tanner MJ	9312167	1997
20	Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. ⁵³ ⁶²	Fathallah DM...Dellagi K	9150731	1997
21	Recent developments in the understanding of the pathophysiology of osteopetrosis. ⁵³ ⁶²	Felix R...Cecchini MG	8630510	1996
22	Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. ⁵³ ⁶²	Hu PY...Tashian RE	8128957	1994
23	Carbonic anhydrase II deficiency syndrome--clinico-pathological, biochemical and molecular studies. ⁵³ ⁶²	Soda H	7700057	1994
24	[Recent progress in molecular biology of inherited tubular transport abnormalities]. ⁵³ ⁶²	Indo Y...Matsuda I	1491459	1992
25	[A case of Hashimoto's thyroiditis associated with renal tubular acidosis, Sjögren syndrome and empty sella syndrome]. ⁵³ ⁶²	Yoshiiwa A...Ogihara T	1468597	1992
26	Molecular basis of human carbonic anhydrase II deficiency. ⁵³ ⁶²	Roth DE...Sly WS	1542674	1992
27	Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. ⁵³ ⁶²	Sly WS...Zhu XL	1959222	1991
28	Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification). ⁵³ ⁶²	Schwartz GJ...Dorfman HD	1925679	1991
29	The excretion of carbonic anhydrase isozymes CA I and CA II in the urine of apparently healthy subjects and in patients with kidney disease. ⁵³ ⁶²	Backman U...Wistrand PJ	2123360	1990
30	Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients. ⁵³ ⁶²	Sato S...Sly WS	2117271	1990
31	[Type IVa2 urinary lithiasis and associated pathologies: About 3 cases]. ⁶²	Gorsane I...Abderrahim E	36280550	2022
32	Pediatric urolithiasis: what can pediatricians expect from radiologists? ⁶²	Bernardor J...Cabet S	36329164	2022
33	Comprehensive analysis of clinical and laboratory features of 440 published cases of Sjögren's syndrome and renal tubular acidosis. ⁶²	Sandhya P	36324184	2022
34	Improved growth of a child with primary distal renal tubular acidosis after switching from a conventional alkalizing treatment to a new prolonged-release formulation containing potassium citrate and potassium bicarbonate: lessons for the clinical nephrologist. ⁶²	Boyer O...Guittet C	35357683	2022
35	A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis. ⁶²	Giovanni Raimondo P...Enrico F	35441494	2022
36	The V-ATPases in cancer and cell death. ⁶²	Chen F...Tang D	35504950	2022
37	[Epidemiological, clinical and evolutionary particularities of primary distal tubular acidosis in Tunisian children]. ⁶²	Hammi Y...Gargah T	36216732	2022
38	Renal tubular acidosis and associated factors in patients with primary Sjögren's syndrome: a registry-based study. ⁶²	Zhang Y...Zeng X	36383239	2022
39	Severe hypophosphatemia as the initial presentation of renal Fanconi's syndrome and distal renal tubular acidosis related to zoledronic acid: A case report and literature review. ⁶²	Wu Y...Su T	36412607	2022
40	Distal renal tubular acidosis and lethargy associated with zonisamide treatment in a dog with idiopathic epilepsy. ⁶²	Itoi T...Kanda T	35916390	2022
41	Renal tubular acidosis and nephrogenic diabetes insipidus caused by Sjögren's syndrome with hypokalemic periodic paralysis as the first symptom: A case report. ⁶²	Tu R...Zeng G	35568514	2022
42	Hypokalemic Periodic Paralysis Secondary to Medullary Sponge Kidney Complicated With Renal Tubular Acidosis. ⁶²	Li J	36238424	2022
43	Acid-Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis. ⁶²	Adachi M...Mizuno K	36320629	2022
44	Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis. ⁶²	Deejai N...Rungroj N	36320073	2022
45	Retraction: Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis. ⁶²	Fatima A...Karim O	36246090	2022
46	Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3. ⁶²	Newstead SM...Finsterer J	36249637	2022
47	Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability. ⁶²	Schonauer R...Halbritter J	35923129	2022
48	Lithium-induced nephropathy; One medication with multiple side effects: a case report. ⁶²	Zhang P...Kassis N	36085030	2022
49	Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute. ⁶²	Dawman L...Sharawat IK	35990030	2022
50	Fanconi Syndrome in an Adult With Chronic Alcohol Use Disorder: A Rare Etiology. ⁶²	Safdar S...Shahid Z	36158425	2022

Sources

Genes for Renal Tubular Acidosis

Genes related to Renal Tubular Acidosis (1 elite genes):

(show all 29)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SLC4A1	Solute Carrier Family 4 Member 1 (Diego Blood Group)	Protein Coding	483.14	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	20068363 9312167 9854053
2	ATP6V1B1	ATPase H+ Transporting V1 Subunit B1	Protein Coding	84.57	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	17670895
3	SLC4A4	Solute Carrier Family 4 Member 4	Protein Coding	54.13	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	15713912
4	CA2	Carbonic Anhydrase 2	Protein Coding	46.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	9525974 15300855 1959222 (more) 9323296 9150731 16825953 17657093 2117271 1925679 11264157 8128957 9630052 8630510 7700057 16382316 1542674 9674946 15694905 19556665 1491459 15701991
5	ATP6V0A4	ATPase H+ Transporting V0 Subunit A4	Protein Coding	37.14	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
6	OCRL	OCRL Inositol Polyphosphate-5-Phosphatase	Protein Coding	22.33	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	15627218
7	SLC12A7	Solute Carrier Family 12 Member 7	Protein Coding	13.6	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	CA4	Carbonic Anhydrase 4	Protein Coding	12.68	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	B2M	Beta-2-Microglobulin	Protein Coding	10.14	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	2123360
10	OSGEP	O-Sialoglycoprotein Endopeptidase	Protein Coding	8.16	DISEASES inferred ¹⁴
11	FOXI1	Forkhead Box I1	Protein Coding	7.33	DISEASES inferred ¹⁴
12	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	7.06	DISEASES inferred ¹⁴
13	CLCN5	Chloride Voltage-Gated Channel 5	Protein Coding	6.94	DISEASES inferred ¹⁴
14	PTH	Parathyroid Hormone	Protein Coding	6.86	DISEASES inferred ¹⁴
15	WDR72	WD Repeat Domain 72	Protein Coding	6.81	DISEASES inferred ¹⁴
16	REN	Renin	Protein Coding	6.62	DISEASES inferred ¹⁴
17	SLC4A7	Solute Carrier Family 4 Member 7	Protein Coding	6.57	DISEASES inferred ¹⁴
18	RHCG	Rh Family C Glycoprotein	Protein Coding	6.55	DISEASES inferred ¹⁴
19	SLC26A7	Solute Carrier Family 26 Member 7	Protein Coding	6.51	DISEASES inferred ¹⁴
20	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	6.48	DISEASES inferred ¹⁴
21	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	6.47	DISEASES inferred ¹⁴
22	SLC12A3	Solute Carrier Family 12 Member 3	Protein Coding	6.44	DISEASES inferred ¹⁴
23	WNK4	WNK Lysine Deficient Protein Kinase 4	Protein Coding	6.43	DISEASES inferred ¹⁴
24	AQP2	Aquaporin 2	Protein Coding	6.41	DISEASES inferred ¹⁴
25	CLDN16	Claudin 16	Protein Coding	6.4	DISEASES inferred ¹⁴
26	SLC9A3	Solute Carrier Family 9 Member A3	Protein Coding	6.39	DISEASES inferred ¹⁴
27	VPS33B	VPS33B Late Endosome And Lysosome Associated	Protein Coding	6.32	DISEASES inferred ¹⁴
28	SLC4A8	Solute Carrier Family 4 Member 8	Protein Coding	6.28	DISEASES inferred ¹⁴
29	SLC26A1	Solute Carrier Family 26 Member 1	Protein Coding	6.24	DISEASES inferred ¹⁴

Sources

Variations for Renal Tubular Acidosis

ClinVar genetic disease variations for Renal Tubular Acidosis:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SLC4A1	NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)	SNV	Pathogenic	17764	rs121912745	GRCh37: 17:42333076-42333076 GRCh38: 17:44255708-44255708
2	SLC4A1	NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg)	SNV	Likely Pathogenic	235293	rs878853002	GRCh37: 17:42332640-42332640 GRCh38: 17:44255272-44255272
3	ATP6V1B1	NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter)	SNV	Likely Pathogenic	988216	rs1288346981	GRCh37: 2:71163163-71163163 GRCh38: 2:70936033-70936033
4	SLC4A1	NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile)	SNV	Uncertain Significance	988235	rs747337202	GRCh37: 17:42328568-42328568 GRCh38: 17:44251200-44251200
5	SLC4A1	NM_000342.4(SLC4A1):c.2385G>A (p.Met795Ile)	SNV	Uncertain Significance	988236	rs2047339489	GRCh37: 17:42328883-42328883 GRCh38: 17:44251515-44251515
6	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln)	SNV	Uncertain Significance	852567	rs1680670309	GRCh37: 2:71191605-71191605 GRCh38: 2:70964475-70964475
7	CA1	NM_001128831.4(CA1):c.368_369del (p.His123fs)	DEL	Uncertain Significance	694733	rs768769200	GRCh37: 8:86245835-86245836 GRCh38: 8:85333606-85333607
8	HADHB	NM_000183.3(HADHB):c.110-2324G>C	SNV	Uncertain Significance	830363	rs764471823	GRCh37: 2:26483924-26483924 GRCh38: 2:26261056-26261056

Sources

Expression for Renal Tubular Acidosis

Search GEO for disease gene expression data for Renal Tubular Acidosis.

Sources

Pathways for Renal Tubular Acidosis

Pathways directly related to Renal Tubular Acidosis:

#	Pathway	Source
1	Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)	Reactome ⁶⁶
2	Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)	Reactome ⁶⁶

Pathways related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Show member pathways Amino acid transport across the plasma membrane ⁶⁶ Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) ⁶⁶ Defective SLC12A1 causes Bartter syndrome 1 (BS1) ⁶⁶ Defective SLC12A3 causes Gitelman syndrome (GS) ⁶⁶ Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) ⁶⁶ Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) ⁶⁶ Defective SLC17A5 causes Salla disease (SD) and ISSD ⁶⁶ Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) ⁶⁶ Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) ⁶⁶ Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) ⁶⁶ Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) ⁶⁶ Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) ⁶⁶ Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) ⁶⁶ Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) ⁶⁶ Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) ⁶⁶ Defective SLC26A4 causes Pendred syndrome (PDS) ⁶⁶ Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) ⁶⁶ Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) ⁶⁶ Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) ⁶⁶ Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) ⁶⁶ Defective SLC6A5 causes hyperekplexia 3 (HKPX3) ⁶⁶ Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) ⁶⁶ Defective SLC9A9 causes autism 16 (AUTS16) ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Proton-coupled neutral amino acid transporters ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transport of bile salts and organic acids, metal ions and amine compounds ⁶⁶ Transport of small molecules ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶ Variant SLC6A14 may confer susceptibility towards obesity ⁶⁶	12.57	SLC4A7 SLC4A4 SLC4A1 SLC26A7 SLC26A4 SLC12A7
2	Disorders of transmembrane transporters ⁶⁶ Show member pathways SLC transporter disorders ⁶⁶	12.06	SLC4A4 SLC4A1 SLC26A4 SLC12A1
3	Proximal tubule transport ⁷⁴	11.11	SLC4A4 CA4 CA2 ATP6V1B1 ATP6V0A4
4	O2/CO2 exchange in erythrocytes ⁶⁶ Show member pathways Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) ⁶⁶ Erythrocytes take up carbon dioxide and release oxygen ⁶⁶ Erythrocytes take up oxygen and release carbon dioxide ⁶⁶	10.89	SLC4A1 CA4 CA2
5	Reversible hydration of carbon dioxide ⁶⁶	10.34	CA4 CA2

Sources

GO Terms for Renal Tubular Acidosis

Cellular components related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	10.74	CLCN5 RHCG SLC12A7 SLC26A4 SLC26A7 SLC4A1
2	plasma membrane	GO:0005887	10.74	CLCN5 RHCG SLC12A7 SLC26A4 SLC26A7 SLC4A1
3	phagocytic vesicle membrane	GO:0030670	9.85	OCRL B2M ATP6V0A4
4	brush border membrane	GO:0031526	9.8	SLC26A4 CA4 ATP6V0A4
5	apical plasma membrane	GO:0016324	9.8	ATP6V0A4 ATP6V1B1 CA4 RHCG SLC12A1 SLC26A4
6	apical part of cell	GO:0045177	9.76	REN CLCN5 CA2 ATP6V0A4
7	basolateral plasma membrane	GO:0016323	9.5	SLC4A7 SLC4A4 SLC4A1 SLC26A7 RHCG CA4

Biological processes related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	10.14	CLCN5 SLC12A1 SLC12A7 SLC26A4 SLC26A7 SLC4A1
2	chloride transport	GO:0006821	10.04	SLC4A1 SLC26A7 CLCN5
3	regulation of intracellular pH	GO:0051453	10.03	SLC4A7 SLC4A4 SLC4A1 CA2
4	chloride transmembrane transport	GO:1902476	10.03	SLC4A1 SLC26A7 SLC26A4 SLC12A7 SLC12A1 CLCN5
5	inorganic anion transport	GO:0015698	10	SLC4A7 SLC4A4 SLC4A1 SLC26A4
6	potassium ion homeostasis	GO:0055075	9.99	SLC12A7 SLC12A1 ATP6V1B1
7	monoatomic ion homeostasis	GO:0050801	9.97	SLC4A1 SLC4A4 SLC4A7
8	chloride ion homeostasis	GO:0055064	9.95	SLC12A7 SLC12A1 ATP6V1B1
9	regulation of pH	GO:0006885	9.92	SLC26A4 RHCG ATP6V1B1 ATP6V0A4
10	oxalate transport	GO:0019532	9.86	SLC26A7 SLC26A4
11	monoatomic anion transport	GO:0006820	9.85	SLC4A7 SLC4A4 SLC4A1 SLC26A7
12	cellular monoatomic ion homeostasis	GO:0006873	9.84	SLC4A1 RHCG
13	renal tubular secretion	GO:0097254	9.83	ATP6V1B1 ATP6V0A4
14	monoatomic ion transport	GO:0006811	9.8	SLC4A7 SLC4A4 SLC4A1 SLC26A7 SLC26A4 SLC12A7
15	monoatomic anion transmembrane transport	GO:0098656	9.7	SLC26A4 SLC26A7 SLC4A1 SLC4A4 SLC4A7
16	synaptic vesicle lumen acidification	GO:0097401	9.55	ATP6V1B1 ATP6V0A4
17	bicarbonate transport	GO:0015701	9.4	SLC4A7 SLC4A4 SLC4A1 SLC26A7 SLC26A4 CA4

Molecular functions related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transporter activity	GO:0022857	9.92	SLC12A1 SLC12A7 SLC4A1 SLC4A4 SLC4A7
2	ammonium transmembrane transporter activity	GO:0008519	9.8	SLC12A7 RHCG
3	oxalate transmembrane transporter activity	GO:0019531	9.78	SLC26A7 SLC26A4
4	symporter activity	GO:0015293	9.77	SLC4A7 SLC4A4 SLC12A7 SLC12A1
5	potassium:chloride symporter activity	GO:0015379	9.76	SLC12A7 SLC12A1
6	sodium:bicarbonate symporter activity	GO:0008510	9.73	SLC4A7 SLC4A4
7	chloride transmembrane transporter activity	GO:0015108	9.73	SLC4A1 SLC26A7 SLC26A4
8	bicarbonate transmembrane transporter activity	GO:0015106	9.63	SLC4A1 SLC26A7 SLC26A4
9	solute:inorganic anion antiporter activity	GO:0005452	9.43	SLC4A7 SLC4A4 SLC4A1
10	chloride:monoatomic cation symporter activity	GO:0015377	9.4	SLC12A7 SLC12A1
11	monoatomic anion transmembrane transporter activity	GO:0008509	9.02	SLC4A7 SLC4A4 SLC4A1 SLC26A7

Sources

Sources for Renal Tubular Acidosis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: RNL007 MIFTS: 51	Renal Tubular Acidosis Categories: Blood diseases, Metabolic diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Drugs Expand all tables

Renal Tubular Acidosis

Aliases & Classifications for Renal Tubular Acidosis

MalaCards integrated aliases for Renal Tubular Acidosis:

Classifications:

External Ids:

Summaries for Renal Tubular Acidosis

Related Diseases for Renal Tubular Acidosis

Diseases in the Renal Tubular Acidosis family:

Diseases related to Renal Tubular Acidosis via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Renal Tubular Acidosis:

Symptoms & Phenotypes for Renal Tubular Acidosis

GenomeRNAi Phenotypes related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Renal Tubular Acidosis:

Drugs & Therapeutics for Renal Tubular Acidosis

Drugs for Renal Tubular Acidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Inferred drug relations via UMLS 71 / NDF-RT 50 :

Cochrane evidence based reviews: acidosis, renal tubular

Genetic Tests for Renal Tubular Acidosis

Genetic tests related to Renal Tubular Acidosis:

Anatomical Context for Renal Tubular Acidosis

Organs/tissues related to Renal Tubular Acidosis:

Publications for Renal Tubular Acidosis

Articles related to Renal Tubular Acidosis:

Genes for Renal Tubular Acidosis

Genes related to Renal Tubular Acidosis (1 elite genes):

Variations for Renal Tubular Acidosis

ClinVar genetic disease variations for Renal Tubular Acidosis:

Expression for Renal Tubular Acidosis

Pathways for Renal Tubular Acidosis

Pathways directly related to Renal Tubular Acidosis:

Pathways related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

GO Terms for Renal Tubular Acidosis

Cellular components related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

Biological processes related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

Molecular functions related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

Sources for Renal Tubular Acidosis

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :