MCID: RNL021
MIFTS: 30

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
Renal Tubular Transport, Inborn Errors 44 73
Inborn Renal Tubular Transport Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:447
MeSH 44 D015499
UMLS 73 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 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...

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:



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 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

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

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
13.03 ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB SCNN1B
2
Show member pathways
12.31 CLCN5 SCNN1B SCNN1G SLC12A1 SLC12A3
3
Show member pathways
12.1 ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB SCNN1B
4
Show member pathways
11.67 CLCN5 CLCNKA CLCNKB
5 11 KCNJ1 SCNN1B SCNN1G
6 10.98 SCNN1B SCNN1G
7 10.83 BSND CLCNKA CLCNKB KCNJ1 SCNN1B SCNN1G
8 10.48 SCNN1B SCNN1G

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

Sources for Renal Tubular Transport Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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