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

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Aliases & Classifications for Renal Tubular Transport Disease

MalaCards integrated aliases for Renal Tubular Transport Disease:

Name: Renal Tubular Transport Disease ¹² ¹⁵

Renal Tubular Transport, Inborn Errors ⁴⁴ ⁷³

Inborn Renal Tubular Transport Disorder ¹²

Classifications:

MalaCards categories:
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:447

MeSH ⁴⁴ D015499

UMLS ⁷³ C0035091

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Summaries for Renal Tubular Transport Disease

MalaCards based summary : Renal Tubular Transport Disease, also known as renal tubular transport, inborn errors, is related to fanconi syndrome and dent disease 1. An important gene associated with Renal Tubular Transport Disease is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Related phenotypes are Increased cell death HMECs cells and cardiovascular system

Wikipedia : ⁷⁶ Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability... more...

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Related Diseases for Renal Tubular Transport Disease

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

(show all 35)

#	Related Disease	Score	Top Affiliating Genes
1	fanconi syndrome	31.7	CLCN5 OCRL
2	dent disease 1	31.6	CLCN5 CLCNKA CLCNKB OCRL
3	renal tubular acidosis	31.6	ATP6V0A4 OCRL REN SCNN1G
4	liddle syndrome 1	31.6	REN SCNN1B SCNN1G WNK4
5	gitelman syndrome	31.4	BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
6	hypercalciuria, absorptive, 2	10.2	CLCN5 KCNJ1
7	bartter syndrome, type 1, antenatal	10.1	ATP6V0A4 SLC12A1
8	impaired renal function disease	10.1	ATP6V0A4 SLC12A1
9	osteopetrosis, autosomal recessive 3	10.1	ATP6V0A4 SLC12A3
10	bartter syndrome, type 4b, neonatal, with sensorineural deafness	10.1	CLCNKA CLCNKB
11	deafness, autosomal recessive 96	10.1	CLCNKA CLCNKB
12	polyhydramnios	10.1	CLCNKB KCNJ1 SLC12A1
13	autosomal recessive nonsyndromic deafness 36	10.1	CLCNKA CLCNKB
14	renal hypertension	10.1	REN SLC12A3
15	lowe oculocerebrorenal syndrome	10.0	CLCN5 OCRL
16	idiopathic bronchiectasis	10.0	SCNN1B SCNN1G
17	infantile bartter syndrome with sensorineural deafness	10.0	BSND CLCNKA CLCNKB
18	arthrogryposis, distal, type 3	10.0	REN SLC12A3 WNK1 WNK4
19	bartter syndrome, type 2, antenatal	10.0	KCNJ1 SCNN1B SCNN1G
20	diabetes insipidus, nephrogenic, autosomal	10.0	ATP6V0A4 CLCNKA SLC12A1
21	diabetes insipidus	9.9	CLCNKA REN SLC12A1
22	pseudohypoaldosteronism, type i, autosomal dominant	9.9	REN SCNN1B SCNN1G
23	pseudohypoaldosteronism, type i, autosomal recessive	9.9	REN SCNN1B SCNN1G
24	antenatal bartter syndrome	9.9	BSND KCNJ1 REN SLC12A1
25	pseudohyperkalemia, familial, 2, due to red cell leak	9.9	KCNJ1 REN SCNN1G WNK1 WNK4
26	familial hypertension	9.9	KLHL3 REN WNK1 WNK4
27	hypertension, essential	9.8	REN SLC12A1 SLC12A3 WNK1 WNK4
28	metabolic acidosis	9.8	ATP6V0A4 KLHL3 SCNN1G WNK1 WNK4
29	mineral metabolism disease	9.8	ATP6V0A4 CLCN5 CLCNKB KCNJ1 REN SLC12A3
30	nephrolithiasis	9.8	ATP6V0A4 BSND CLCN5 CLCNKB KCNJ1 SLC12A1
31	hypokalemia	9.7	BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
32	nephrocalcinosis	9.7	ATP6V0A4 CLCN5 CLCNKB KCNJ1 OCRL SLC12A1
33	bartter syndrome, type 3	9.6	ATP6V0A4 BSND CLCNKB KCNJ1 REN SLC12A1
34	bartter disease	9.5	BSND CLCN5 CLCNKA CLCNKB KCNJ1 REN
35	pseudohypoaldosteronism	9.4	KCNJ1 KLHL3 REN SCNN1B SCNN1G SLC12A3

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

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Symptoms & Phenotypes for Renal Tubular Transport Disease

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased cell death HMECs cells	GR00103-A-0	9.02	KLHL3 OCRL STK39 WNK1 WNK4

MGI Mouse Phenotypes related to Renal Tubular Transport Disease:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.06	BSND CLCNKA KCNJ1 KLHL3 REN SCNN1B
2	homeostasis/metabolism	MP:0005376	10.06	ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB KCNJ1
3	growth/size/body region	MP:0005378	10	ATP6V0A4 BSND CLCN5 CLCNKA KCNJ1 OCRL
4	mortality/aging	MP:0010768	9.65	ATP6V0A4 BSND CLCNKA KCNJ1 OCRL REN
5	renal/urinary system	MP:0005367	9.53	ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB KCNJ1

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Drugs & Therapeutics for Renal Tubular Transport Disease

Search Clinical Trials , NIH Clinical Center for Renal Tubular Transport Disease

Cochrane evidence based reviews: renal tubular transport, inborn errors

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Genetic Tests for Renal Tubular Transport Disease

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Anatomical Context for Renal Tubular Transport Disease

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Publications for Renal Tubular Transport Disease

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Genes for Renal Tubular Transport Disease

Genes related to Renal Tubular Transport Disease (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CLCN5	Chloride Voltage-Gated Channel 5	Protein Coding	19.29	DISEASES inferred ¹⁵
2	SLC12A3	Solute Carrier Family 12 Member 3	Protein Coding	19.11	DISEASES inferred ¹⁵
3	WNK4	WNK Lysine Deficient Protein Kinase 4	Protein Coding	18.94	DISEASES inferred ¹⁵
4	CLCNKB	Chloride Voltage-Gated Channel Kb	Protein Coding	18.92	DISEASES inferred ¹⁵
5	SCNN1G	Sodium Channel Epithelial 1 Gamma Subunit	Protein Coding	18.9	DISEASES inferred ¹⁵
6	KCNJ1	Potassium Voltage-Gated Channel Subfamily J Member 1	Protein Coding	18.85	DISEASES inferred ¹⁵
7	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	18.49	DISEASES inferred ¹⁵
8	WNK1	WNK Lysine Deficient Protein Kinase 1	Protein Coding	18.4	DISEASES inferred ¹⁵
9	ATP6V0A4	ATPase H+ Transporting V0 Subunit A4	Protein Coding	18.29	DISEASES inferred ¹⁵
10	BSND	Barttin CLCNK Type Accessory Beta Subunit	Protein Coding	18.27	DISEASES inferred ¹⁵
11	REN	Renin	Protein Coding	18.18	DISEASES inferred ¹⁵
12	OCRL	OCRL, Inositol Polyphosphate-5-Phosphatase	Protein Coding	18.1	DISEASES inferred ¹⁵
13	KLHL3	Kelch Like Family Member 3	Protein Coding	17.99	DISEASES inferred ¹⁵
14	SCNN1B	Sodium Channel Epithelial 1 Beta Subunit	Protein Coding	17.8	DISEASES inferred ¹⁵
15	STK39	Serine/Threonine Kinase 39	Protein Coding	17.73	DISEASES inferred ¹⁵
16	CLCNKA	Chloride Voltage-Gated Channel Ka	Protein Coding	17.7	DISEASES inferred ¹⁵

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Variations for Renal Tubular Transport Disease

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Expression for Renal Tubular Transport Disease

Search GEO for disease gene expression data for Renal Tubular Transport Disease.

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Pathways for Renal Tubular Transport Disease

Pathways related to Renal Tubular Transport Disease according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁶ Show member pathways Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Class II GLUTs ⁶⁶ Facilitative Na+-independent glucose transporters ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Na+-dependent glucose 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 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 Transmembrane transport of small molecules ⁶⁶ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶	13.03	ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB SCNN1B
2	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.31	CLCN5 SCNN1B SCNN1G SLC12A1 SLC12A3
3	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.1	ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB SCNN1B
4	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.67	CLCN5 CLCNKA CLCNKB
5	Aldosterone-regulated sodium reabsorption ³⁷	11	KCNJ1 SCNN1B SCNN1G
6	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) ²²	10.98	SCNN1B SCNN1G
7	Diuretics Pathway, Pharmacodynamics ⁶¹	10.83	BSND CLCNKA CLCNKB KCNJ1 SCNN1B SCNN1G
8	NO-dependent CFTR activation (normal and CF) ²²	10.48	SCNN1B SCNN1G

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GO Terms for Renal Tubular Transport Disease

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

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.93	ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB KCNJ1
2	integral component of plasma membrane	GO:0005887	9.87	BSND CLCN5 CLCNKA CLCNKB SCNN1B SCNN1G
3	membrane	GO:0016020	9.83	ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB KCNJ1
4	apical part of cell	GO:0045177	9.54	ATP6V0A4 CLCN5 REN
5	sodium channel complex	GO:0034706	9.26	SCNN1B SCNN1G
6	apical plasma membrane	GO:0016324	9.1	ATP6V0A4 SCNN1B SCNN1G SLC12A1 SLC12A3 STK39

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

(show all 28)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transmembrane transport	GO:0034220	9.87	ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB KCNJ1
2	regulation of ion transmembrane transport	GO:0034765	9.81	CLCNKA CLCNKB KCNJ1
3	sodium ion transport	GO:0006814	9.81	SCNN1B SCNN1G SLC12A1 SLC12A3
4	chloride transport	GO:0006821	9.77	BSND CLCN5 CLCNKA CLCNKB WNK4
5	sodium ion transmembrane transport	GO:0035725	9.76	SCNN1B SCNN1G SLC12A1 SLC12A3
6	potassium ion import across plasma membrane	GO:1990573	9.72	KCNJ1 SLC12A1 SLC12A3
7	potassium ion import	GO:0010107	9.7	KCNJ1 SLC12A1 SLC12A3
8	ion transport	GO:0006811	9.7	ATP6V0A4 CLCN5 CLCNKA CLCNKB KCNJ1 SCNN1B
9	cell volume homeostasis	GO:0006884	9.63	SLC12A1 SLC12A3
10	potassium ion homeostasis	GO:0055075	9.63	SLC12A1 SLC12A3
11	chloride transmembrane transport	GO:1902476	9.63	BSND CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A3
12	positive regulation of T cell chemotaxis	GO:0010820	9.62	STK39 WNK1
13	cellular response to chemokine	GO:1990869	9.62	STK39 WNK1
14	sodium ion homeostasis	GO:0055078	9.61	SCNN1B SCNN1G
15	positive regulation of ion transmembrane transporter activity	GO:0032414	9.61	STK39 WNK1 WNK4
16	chloride ion homeostasis	GO:0055064	9.6	SLC12A1 SLC12A3
17	multicellular organismal water homeostasis	GO:0050891	9.59	SCNN1B SCNN1G
18	positive regulation of sodium ion transmembrane transporter activity	GO:2000651	9.58	WNK1 WNK4
19	negative regulation of sodium ion transport	GO:0010766	9.58	WNK1 WNK4
20	negative regulation of pancreatic juice secretion	GO:0090188	9.58	STK39 WNK1 WNK4
21	positive regulation of potassium ion import	GO:1903288	9.57	WNK1 WNK4
22	renal sodium ion absorption	GO:0070294	9.56	KLHL3 WNK4
23	ion homeostasis	GO:0050801	9.56	KLHL3 STK39 WNK1 WNK4
24	signal transduction by trans-phosphorylation	GO:0023016	9.54	STK39 WNK1
25	distal tubule morphogenesis	GO:0072156	9.49	KLHL3 WNK4
26	regulation of cellular process	GO:0050794	9.48	WNK1 WNK4
27	excretion	GO:0007588	9.17	ATP6V0A4 CLCN5 CLCNKA CLCNKB KCNJ1 SCNN1B
28	transmembrane transport	GO:0055085	10	CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A3

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	WW domain binding	GO:0050699	9.49	SCNN1B SCNN1G
2	chloride channel inhibitor activity	GO:0019869	9.48	WNK1 WNK4
3	ligand-gated sodium channel activity	GO:0015280	9.46	SCNN1B SCNN1G
4	potassium:chloride symporter activity	GO:0015379	9.43	SLC12A1 SLC12A3
5	cation:chloride symporter activity	GO:0015377	9.4	SLC12A1 SLC12A3
6	potassium channel inhibitor activity	GO:0019870	9.37	WNK1 WNK4
7	sodium ion transmembrane transporter activity	GO:0015081	9.32	SLC12A1 SLC12A3
8	sodium:chloride symporter activity	GO:0015378	9.26	SLC12A1 SLC12A3
9	chloride channel activity	GO:0005254	9.26	BSND CLCN5 CLCNKA CLCNKB
10	sodium:potassium:chloride symporter activity	GO:0008511	9.16	SLC12A1 SLC12A3
11	voltage-gated chloride channel activity	GO:0005247	8.92	BSND CLCN5 CLCNKA CLCNKB

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