MCID: RNL021
MIFTS: 26

Renal Tubular Transport Disease

Categories: Nephrological diseases

Aliases & Classifications for Renal Tubular Transport Disease

MalaCards integrated aliases for Renal Tubular Transport Disease:

Name: Renal Tubular Transport Disease 12 15 17
Renal Tubular Transport, Inborn Errors 44 70
Inborn Renal Tubular Transport Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:447
MeSH 44 D015499
UMLS 70 C0035091

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 SLC12A3 (Solute Carrier Family 12 Member 3), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Related phenotypes are Decreased viability and Decreased viability

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 top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 fanconi syndrome 32.1 SLC4A4 OCRL CTNS CLCN5
2 dent disease 1 31.8 SLC12A1 OCRL KCNJ1 CTNS CLCNKB CLCNKA
3 renal tubular acidosis 31.8 SLC4A4 SLC4A1 SCNN1G REN OCRL ATP6V1B1
4 gitelman syndrome 31.5 WNK4 WNK1 STK39 SLC12A3 SLC12A1 REN
5 liddle syndrome 1 31.4 WNK4 WNK1 STK39 SLC12A3 SLC12A1 SCNN1G
6 iminoglycinuria 11.2
7 nephrogenic syndrome of inappropriate antidiuresis 11.2
8 x-linked nephrolithiasis type i 11.2
9 bartter syndrome, type 1, antenatal 10.4 SLC12A3 SLC12A1 KCNJ1
10 bartter syndrome, type 4a, neonatal, with sensorineural deafness 10.4 KCNJ1 CLCNKB BSND
11 hypomagnesemia 5, renal, with or without ocular involvement 10.4 SLC12A1 KCNJ1 BSND
12 orofaciodigital syndrome x 10.4 CLCNKA BSND
13 miliaria rubra 10.4 SCNN1G SCNN1B
14 miliaria 10.4 SCNN1G SCNN1B
15 infantile bartter syndrome with sensorineural deafness 10.4 CLCNKB CLCNKA BSND
16 apparent mineralocorticoid excess 10.4 WNK4 REN KCNJ1
17 medullary sponge kidney 10.4 CLCN5 ATP6V1B1 ATP6V0A4
18 proteinuria, chronic benign 10.4 REN CLCNKB CLCN5
19 hypercalciuria, absorptive, 2 10.4 KCNJ1 CLCN5
20 nephrolithiasis, calcium oxalate 10.3 SLC12A1 CLCN5 ATP6V1B1
21 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.3 SLC4A4 SLC12A1
22 osteopetrosis, autosomal recessive 1 10.3 ATP6V1B1 ATP6V0A4
23 hyperaldosteronism, familial, type i 10.3 WNK4 WNK1 REN
24 myotonia congenita 10.3 CLCNKB CLCNKA CLCN5
25 pseudohypoaldosteronism, type i, autosomal dominant 10.3 SCNN1G SCNN1B REN
26 bartter syndrome, type 4b, neonatal, with sensorineural deafness 10.3 CLCNKB CLCNKA
27 antenatal bartter syndrome 10.3 SLC12A1 REN KCNJ1 BSND
28 idiopathic hypercalciuria 10.3 REN CLCN5
29 bartter syndrome, type 2, antenatal 10.3 SLC12A1 SCNN1G SCNN1B KCNJ1
30 hereditary distal renal tubular acidosis 10.3 SLC4A1 ATP6V1B1 ATP6V0A4
31 distal renal tubular acidosis 10.3 SLC4A1 ATP6V1B1 ATP6V0A4
32 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 10.3 SLC4A1 ATP6V1B1 ATP6V0A4
33 placenta disease 10.3 SLC12A1 REN KCNJ1
34 auditory system disease 10.3 BSND ATP6V1B1 ATP6V0A4
35 familial hypertension 10.3 WNK4 WNK1 REN KLHL3
36 diabetes insipidus 10.3 SLC12A1 REN CLCNKB CLCNKA
37 autosomal recessive distal renal tubular acidosis 10.3 SLC4A1 ATP6V1B1 ATP6V0A4
38 pseudohypoaldosteronism, type iie 10.3 WNK4 WNK1 KLHL3
39 neuropathy, hereditary sensory and autonomic, type iib 10.3 WNK1 STK39
40 corneal dystrophy, band-shaped 10.3 SLC4A4 CTNS
41 mineral metabolism disease 10.3 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB
42 agenesis of the corpus callosum with peripheral neuropathy 10.3 STK39 SLC12A1
43 polyhydramnios 10.3 SLC12A3 SLC12A1 KCNJ1 CLCNKB BSND
44 hereditary elliptocytosis 10.3 SLC4A1 ATP6V1B1 ATP6V0A4
45 primary hypomagnesemia 10.2 SLC12A1 KCNJ1
46 pseudohypoaldosteronism, type i, autosomal recessive 10.2 SCNN1G SCNN1B REN KCNJ1 ATP6V1B1
47 osteopetrosis, autosomal recessive 4 10.2 SLC4A4 SLC4A1 ATP6V1B1 ATP6V0A4
48 osteopetrosis, autosomal recessive 7 10.2 SLC4A4 SLC4A1 ATP6V1B1 ATP6V0A4
49 osteopetrosis, autosomal recessive 6 10.2 SLC4A4 SLC4A1 ATP6V1B1 ATP6V0A4
50 sensorineural hearing loss 10.2 SLC12A1 KCNJ1 BSND ATP6V1B1 ATP6V0A4

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



Diseases related to Renal Tubular Transport Disease

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 Decreased viability GR00107-A-1 9.64 STK39
2 Decreased viability GR00221-A-1 9.64 WNK4
3 Decreased viability GR00221-A-2 9.64 STK39 WNK4
4 Decreased viability GR00221-A-3 9.64 WNK1
5 Decreased viability GR00221-A-4 9.64 WNK1 WNK4
6 Decreased viability GR00240-S-1 9.64 STK39
7 Decreased viability GR00249-S 9.64 KCNJ1 SLC12A1 SLC12A3 STK39 WNK1
8 Decreased viability GR00301-A 9.64 STK39
9 Decreased viability GR00386-A-1 9.64 CTNS SCNN1G SLC4A4 WNK1
10 Decreased viability GR00402-S-2 9.64 SLC12A1 SLC12A3 WNK1

MGI Mouse Phenotypes related to Renal Tubular Transport Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 ATP6V1B1 BSND CLCNKA KCNJ1 KLHL3 REN
2 homeostasis/metabolism MP:0005376 10.16 ATP6V0A4 ATP6V1B1 BSND CLCN5 CLCNKA CLCNKB
3 growth/size/body region MP:0005378 10.1 ATP6V0A4 ATP6V1B1 BSND CLCN5 CLCNKA KCNJ1
4 mortality/aging MP:0010768 9.77 ATP6V0A4 BSND CLCNKA KCNJ1 OCRL REN
5 renal/urinary system MP:0005367 9.62 ATP6V0A4 ATP6V1B1 BSND CLCN5 CLCNKA CLCNKB

Drugs & Therapeutics for Renal Tubular Transport Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287

Search NIH Clinical Center for Renal Tubular Transport Disease

Cochrane evidence based reviews: renal tubular transport, inborn errors

Genetic Tests for Renal Tubular Transport Disease

Anatomical Context for Renal Tubular Transport Disease

Publications for Renal Tubular Transport Disease

Variations for Renal Tubular Transport Disease

Expression for Renal Tubular Transport Disease

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

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
Show member pathways
12.96 WNK4 WNK1 SLC4A4 SLC4A1 SLC12A3 SLC12A1
2
Show member pathways
12.35 WNK4 WNK1 SCNN1G SCNN1B CLCNKB CLCNKA
3
Show member pathways
12.31 SLC12A3 SLC12A1 SCNN1G SCNN1B CLCN5
4
Show member pathways
12.15 SLC4A1 CLCNKB ATP6V1B1 ATP6V0A4
5
Show member pathways
11.7 CLCNKB CLCNKA CLCN5
6 11 SCNN1G SCNN1B KCNJ1
7 10.83 WNK4 WNK1 STK39 SLC12A3 SLC12A1 SCNN1G
8 10.48 SCNN1G SCNN1B

GO Terms for Renal Tubular Transport Disease

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.25 SLC4A4 SLC4A1 SLC12A3 SLC12A1 SCNN1G SCNN1B
2 plasma membrane GO:0005886 10.03 SLC4A4 SLC4A1 SLC12A3 SLC12A1 SCNN1G SCNN1B
3 extracellular exosome GO:0070062 10.02 SLC4A4 SLC4A1 SLC12A3 SLC12A1 SCNN1G SCNN1B
4 membrane GO:0016020 9.93 WNK4 WNK1 STK39 SLC4A4 SLC4A1 SLC12A3
5 integral component of plasma membrane GO:0005887 9.91 SLC4A4 SLC4A1 SLC12A3 SCNN1G SCNN1B CLCNKB
6 basolateral plasma membrane GO:0016323 9.72 STK39 SLC4A4 SLC4A1 BSND ATP6V1B1
7 apical part of cell GO:0045177 9.65 REN CLCN5 ATP6V0A4
8 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.49 ATP6V1B1 ATP6V0A4
9 plasma membrane protein complex GO:0098797 9.46 SCNN1G SCNN1B
10 sodium channel complex GO:0034706 9.4 SCNN1G SCNN1B
11 apical plasma membrane GO:0016324 9.17 STK39 SLC12A3 SLC12A1 SCNN1G SCNN1B ATP6V1B1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.06 SLC4A4 SLC4A1 SLC12A3 SLC12A1 CTNS CLCNKB
2 ion transmembrane transport GO:0034220 9.96 SLC12A1 SCNN1G SCNN1B KCNJ1 CLCNKB CLCNKA
3 sodium ion transport GO:0006814 9.89 SLC4A4 SLC12A3 SLC12A1 SCNN1G SCNN1B
4 sodium ion transmembrane transport GO:0035725 9.88 SLC4A4 SLC12A3 SLC12A1 SCNN1G SCNN1B
5 chloride transmembrane transport GO:1902476 9.87 SLC4A1 SLC12A3 SLC12A1 CLCNKB CLCNKA CLCN5
6 chloride transport GO:0006821 9.85 WNK4 SLC4A1 CLCNKB CLCNKA CLCN5 BSND
7 proton transmembrane transport GO:1902600 9.81 CLCN5 ATP6V1B1 ATP6V0A4
8 potassium ion import across plasma membrane GO:1990573 9.74 SLC12A3 SLC12A1 KCNJ1
9 sodium ion homeostasis GO:0055078 9.71 SLC12A3 SLC12A1 SCNN1G SCNN1B
10 potassium ion homeostasis GO:0055075 9.7 SLC12A3 SLC12A1 ATP6V1B1
11 chloride ion homeostasis GO:0055064 9.69 SLC12A3 SLC12A1 ATP6V1B1
12 regulation of pH GO:0006885 9.63 ATP6V1B1 ATP6V0A4
13 ion homeostasis GO:0050801 9.63 WNK4 WNK1 STK39 SLC4A4 SLC4A1 KLHL3
14 cell volume homeostasis GO:0006884 9.62 SLC12A3 SLC12A1
15 cellular response to chemokine GO:1990869 9.62 WNK1 STK39
16 positive regulation of T cell chemotaxis GO:0010820 9.61 WNK1 STK39
17 multicellular organismal water homeostasis GO:0050891 9.61 SCNN1G SCNN1B
18 negative regulation of pancreatic juice secretion GO:0090188 9.61 WNK4 WNK1 STK39
19 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.6 WNK4 WNK1
20 positive regulation of potassium ion import GO:1903288 9.59 WNK4 WNK1
21 negative regulation of sodium ion transport GO:0010766 9.58 WNK4 WNK1
22 renal sodium ion absorption GO:0070294 9.58 WNK4 KLHL3
23 cellular response to aldosterone GO:1904045 9.56 SCNN1G SCNN1B
24 excretion GO:0007588 9.56 SCNN1G SCNN1B KCNJ1 CLCNKB CLCNKA CLCN5
25 distal tubule morphogenesis GO:0072156 9.55 WNK4 KLHL3
26 regulation of cellular process GO:0050794 9.54 WNK4 WNK1
27 ion transport GO:0006811 9.5 WNK4 WNK1 SLC4A4 SLC4A1 SLC12A3 SLC12A1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.69 SLC4A4 SLC12A3 SLC12A1
2 transmembrane transporter activity GO:0022857 9.62 SLC4A4 SLC4A1 SLC12A3 SLC12A1
3 anion transmembrane transporter activity GO:0008509 9.49 SLC4A4 SLC4A1
4 inorganic anion exchanger activity GO:0005452 9.48 SLC4A4 SLC4A1
5 ligand-gated sodium channel activity GO:0015280 9.46 SCNN1G SCNN1B
6 chloride channel inhibitor activity GO:0019869 9.43 WNK4 WNK1
7 potassium channel inhibitor activity GO:0019870 9.4 WNK4 WNK1
8 potassium:chloride symporter activity GO:0015379 9.37 SLC12A3 SLC12A1
9 cation:chloride symporter activity GO:0015377 9.26 SLC12A3 SLC12A1
10 chloride channel activity GO:0005254 9.26 CLCNKB CLCNKA CLCN5 BSND
11 sodium:potassium:chloride symporter activity GO:0008511 9.16 SLC12A3 SLC12A1
12 voltage-gated chloride channel activity GO:0005247 8.8 CLCNKB CLCNKA CLCN5

Sources for Renal Tubular Transport Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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