MCID: BRT004
MIFTS: 47

Bartter Disease malady

Categories: Rare diseases, Nephrological diseases, Endocrine diseases, Genetic diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Bartter Disease

Aliases & Descriptions for Bartter Disease:

Name: Bartter Disease 38 12 25 14 69
Bartter Syndrome 50 25 56 29 42
Bartter's Syndrome 12 50 25
Aldosteronism with Hyperplasia of the Adrenal Cortex 12 25
Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria 56
Juxtaglomerular Hyperplasia with Secondary Aldosteronism 25
Salt-Losing Tubular Disorder, Henle's Loop Type 56
Salt-Wasting Tubulopathy, Henle's Loop Type 56
Hypokalemic Alkalosis with Hypercalciuria 50
Potassium Wasting 50
Bartters Syndrome 52

Characteristics:

Orphanet epidemiological data:

56
bartter syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Sweden),1-9/100000 (Kuwait); Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:445
ICD10 33 E26.81
ICD9CM 35 255.13
MeSH 42 D001477
NCIt 47 C34412
Orphanet 56 ORPHA112
MESH via Orphanet 43 D001477
UMLS via Orphanet 70 C0004775
ICD10 via Orphanet 34 E26.8
UMLS 69 C0004775

Summaries for Bartter Disease

NIH Rare Diseases : 50 bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. in some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). affected infants typically do not grow and gain weight as expected (failure to thrive). dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. bartter syndrome is caused by mutations in any one of at least 5 genes and is usually inherited in an autosomal recessive manner. the different types of bartter syndrome are classified according to the age of onset, severity, and the specific gene that causes the condition. treatment depends on the type of the syndrome present but chiefly focuses on restoring and maintaining the proper balance of fluids and electrolytes in the body. last updated: 9/19/2016

MalaCards based summary : Bartter Disease, also known as bartter syndrome, is related to bartter syndrome, type 4b, digenic and bartter syndrome, type 3, and has symptoms including short stature and abnormality of metabolism/homeostasis. An important gene associated with Bartter Disease is KCNJ1 (Potassium Voltage-Gated Channel Subfamily J Member 1), 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. The drugs Pioglitazone and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

Genetics Home Reference : 25 Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.

Wikipedia : 71 Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is... more...

Related Diseases for Bartter Disease

Diseases in the Bartter Disease family:

Bartter Syndrome, Type 3 Bartter Syndrome, Type 4a
Bartter Syndrome, Type 2 Bartter Syndrome, Type 1
Bartter Disease Type 5 Bartter Syndrome Type 4

Diseases related to Bartter Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
id Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 4b, digenic 32.1 CLCNKA CLCNKB
2 bartter syndrome, type 3 31.7 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
3 bartter disease type 5 12.0
4 bartter syndrome, type 4a 11.5
5 bartter syndrome, type 2 11.5
6 bartter syndrome, type 1 11.5
7 fanconi renotubular syndrome 1 10.8
8 congenital chloride diarrhea 10.8
9 cataract 21, multiple types 10.2 CLCNKB REN
10 dystonia 25 10.2 REN SLC12A3
11 microphthalmia, isolated, with coloboma 7 10.1 KCNJ1 REN
12 petrositis 10.1 REN SLC12A3
13 clear cell adenocarcinoma 10.0 REN SLC12A3
14 brip1-related breast cancer 10.0 CLCNKA CLCNKB
15 listeria meningitis 10.0 CASR REN SLC12A3
16 deafness, autosomal recessive 96 10.0 CLCNKA CLCNKB
17 deafness, autosomal recessive 36 10.0 CLCNKA CLCNKB
18 deafness, nonsyndromic, modifier 1 10.0 CASR CLCN5 KCNJ1
19 hypertension, essential 10.0 REN SLC12A1 SLC12A3
20 pulmonary sarcoidosis 10.0 KCNJ1 SLC12A3
21 high-grade dysplasia in patients with barrett esophagus 10.0 CASR CLCN5 REN
22 hyperaldosteronism, familial, type iii 10.0 CASR KCNJ1 REN SLC12A1
23 impetigo 9.9 CLCNKB KCNJ1 MAGED2 SLC12A1
24 mixed receptive-expressive language disorder 9.9 CLCN5 CLCNKB KCNJ1 SLC12A1
25 basal cell carcinoma 4 9.9 CLCNKA SLC12A1
26 maple syrup urine disease, type ii 9.9 BSND CLCNKA CLCNKB
27 fatty liver disease 9.9 CLCNKA REN SLC12A1
28 renal tubular acidosis 9.8
29 dysphagia lusoria 9.8 BSND KCNJ1 MAGED2 REN SLC12A1
30 aorta angiosarcoma 9.7 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
31 fanconi syndrome 9.6
32 leptospirosis 9.6
33 hypokalemia 9.6
34 indian tick typhus 9.6 CASR CLCN5 CLCNKB KCNJ1 REN SLC12A3
35 hypophosphatemic rickets 9.6 CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A3
36 episodic kinesigenic dyskinesia 2 9.5 BSND CASR CLCNKB KCNJ1 REN SLC12A1
37 malignant biphasic mesothelioma 9.5 BSND CLCN5 CLCNKB KCNJ1 REN SLC12A1
38 bipolar disorder 8.6 BSND CASR CLCN5 CLCNKA CLCNKB KCNJ1

Graphical network of the top 20 diseases related to Bartter Disease:



Diseases related to Bartter Disease

Symptoms & Phenotypes for Bartter Disease

Human phenotypes related to Bartter Disease:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 Very frequent (99-80%) HP:0004322
2 abnormality of metabolism/homeostasis 56 32 Very frequent (99-80%) HP:0001939

GenomeRNAi Phenotypes related to Bartter Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.58 SLC12A3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.58 SLC12A3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.58 SLC12A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.58 SLC12A3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.58 SLC12A3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.58 SLC12A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.58 SLC12A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.58 SLC12A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.58 SLC12A2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.58 SLC12A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.58 SLC12A1 SLC12A2 SLC12A3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.58 SLC12A2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.58 SLC12A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.58 SLC12A2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.58 SLC12A2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.58 SLC12A3

MGI Mouse Phenotypes related to Bartter Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 BSND KCNJ1 REN SLC12A1 SLC12A2 SLC12A3
2 homeostasis/metabolism MP:0005376 9.61 KCNJ1 REN SLC12A1 SLC12A2 SLC12A3 BSND
3 renal/urinary system MP:0005367 9.23 BSND CASR CLCN5 CLCNKB KCNJ1 REN

Drugs & Therapeutics for Bartter Disease

Drugs for Bartter Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
2
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
3
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
4
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
5 Hormones Phase 4
6 insulin Phase 4
7 diuretics Phase 4
8
protease inhibitors Phase 4
9 Natriuretic Agents Phase 4
10 TIMP1 protein, human Phase 4
11 TIMP3 protein, human Phase 4
12 HIV Protease Inhibitors Phase 4
13 Tissue Inhibitor of Metalloproteinase-1 Phase 4
14 Tissue Inhibitor of Metalloproteinase-3 Phase 4
15 Tissue Inhibitor of Metalloproteinases Phase 4
16 Hormone Antagonists Phase 4
17 Diuretics, Potassium Sparing Phase 4
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
19 Hypoglycemic Agents Phase 4
20 2,4-thiazolidinedione Phase 4
21 Insulin, Globin Zinc Phase 4
22 Liver Extracts Phase 4
23 Matrix Metalloproteinase Inhibitors Phase 4
24 Mineralocorticoid Receptor Antagonists Phase 4
25 Mineralocorticoids Phase 4
26 Anti-Bacterial Agents Phase 4
27 Anti-Infective Agents Phase 4
28 Antifungal Agents Phase 4
29 Liposomal amphotericin B Phase 4
30 Antiparasitic Agents Phase 4
31 Antiprotozoal Agents Phase 4
32
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
33 Calcium, Dietary
34 Sodium Chloride Symporter Inhibitors
35 Antihypertensive Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 University of Texas H.S.C. San Antonio Pioglitazone in Non-Alcoholic Steatohepatitis Trial (UTHSCSA NASH Trial) Completed NCT00994682 Phase 4
2 Effect of Pioglitazone on TIMP-3 and TACE in Type 2 Diabetes Completed NCT01223196 Phase 4
3 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4
4 Parathyroid Hormone (PTH) Homeostasis in Bartter Syndrome Unknown status NCT01021280
5 Spironolactone to Decrease Potassium Wasting in Hypercalciurics on Thiazides Diuretics Completed NCT00276289
6 A Translational Approach to Gitelman Syndrome Completed NCT00822107

Search NIH Clinical Center for Bartter Disease

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: bartter syndrome

Genetic Tests for Bartter Disease

Genetic tests related to Bartter Disease:

id Genetic test Affiliating Genes
1 Bartter's Syndrome 29

Anatomical Context for Bartter Disease

MalaCards organs/tissues related to Bartter Disease:

39
Kidney, Bone, Cortex, Adrenal Cortex
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Bartter Disease:
id Tissue Anatomical CompartmentCell Relevance
1 Kidney Loop of Henle Loop of Henle Cells Affected by disease

Publications for Bartter Disease

Articles related to Bartter Disease:

id Title Authors Year
1
Cardiac arrhythmias due to severe hypokalemia in a patient with classic Bartter disease. ( 15338397 )
2004
2
[Neonatal Bartter disease diagnosed with the detection of a mutation of the KCNJ1 gene which codifies the synthesis of the renal ROMK1 potassium channel]. ( 11795013 )
2001

Variations for Bartter Disease

Expression for Bartter Disease

Search GEO for disease gene expression data for Bartter Disease.

Pathways for Bartter Disease

Pathways related to Bartter Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 BSND CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A2
2
Show member pathways
12.15 CLCN5 SLC12A1 SLC12A2 SLC12A3
3
Show member pathways
11.95 BSND CLCN5 CLCNKA CLCNKB
4
Show member pathways
11.59 CLCN5 CLCNKA CLCNKB
5 10.56 BSND CLCNKA CLCNKB KCNJ1 SLC12A1 SLC12A3

GO Terms for Bartter Disease

Cellular components related to Bartter Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.97 BSND CASR CLCN5 CLCNKA CLCNKB KCNJ1
2 membrane GO:0016020 9.9 BSND CASR CLCN5 CLCNKA CLCNKB KCNJ1
3 plasma membrane GO:0005886 9.65 BSND CASR CLCN5 CLCNKA CLCNKB KCNJ1
4 apical plasma membrane GO:0016324 9.56 CASR SLC12A1 SLC12A2 SLC12A3
5 chloride channel complex GO:0034707 9.37 CLCNKA CLCNKB
6 integral component of plasma membrane GO:0005887 9.17 BSND CASR CLCN5 CLCNKA CLCNKB SLC12A2

Biological processes related to Bartter Disease according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.98 CLCN5 CLCNKA CLCNKB KCNJ1 SLC12A1 SLC12A2
2 ion transport GO:0006811 9.87 CLCN5 CLCNKA CLCNKB KCNJ1 SLC12A1 SLC12A2
3 transmembrane transport GO:0055085 9.85 CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A2 SLC12A3
4 ion transmembrane transport GO:0034220 9.8 BSND CLCN5 CLCNKA CLCNKB SLC12A1
5 regulation of ion transmembrane transport GO:0034765 9.67 CLCNKA CLCNKB KCNJ1
6 potassium ion transport GO:0006813 9.65 KCNJ1 SLC12A1 SLC12A2
7 sodium ion transport GO:0006814 9.63 SLC12A1 SLC12A2 SLC12A3
8 excretion GO:0007588 9.56 CLCN5 CLCNKA CLCNKB KCNJ1
9 chloride transmembrane transport GO:1902476 9.5 BSND CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A2
10 regulation of anion transmembrane transport GO:1903959 9.46 BSND CLCN5 CLCNKA CLCNKB
11 chloride transport GO:0006821 9.17 BSND CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A2

Molecular functions related to Bartter Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.54 CLCNKA CLCNKB KCNJ1
2 symporter activity GO:0015293 9.5 SLC12A1 SLC12A2 SLC12A3
3 chloride channel activity GO:0005254 9.46 BSND CLCN5 CLCNKA CLCNKB
4 sodium:potassium:chloride symporter activity GO:0008511 9.26 SLC12A1 SLC12A2
5 cation:chloride symporter activity GO:0015377 9.13 SLC12A1 SLC12A2 SLC12A3
6 voltage-gated chloride channel activity GO:0005247 8.92 BSND CLCN5 CLCNKA CLCNKB

Sources for Bartter Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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