MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:1259
Name:Bartter syndrome, type 3
Definition:
Alternative IDs:OMIM:607364
ParentIDs:MESH:D001477
TreeNumbers:C12.777.419.815.279/C537653 |C13.351.968.419.815.279/C537653 |C19.053.800.604.249/C537653
Synonyms:BARTS3 |Bartter syndrome, classic |BARTTER SYNDROME, CLASSIC BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED
Slim Mappings:Endocrine system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C537653
MeSH: C537653
OMIM: 607364;
MSeqDR LSDB:  
Genes: AKR1D1; CLCNKB;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000610Abnormal choroid morphology
3 HP:0000591Abnormal sclera morphology
4 HP:0008046Abnormality of the retinal vasculature
5 HP:0001944Dehydration
6 HP:0003324Generalized muscle weakness
7 HP:0000841Hyperactive renin-angiotensin system
8 HP:0000859Hyperaldosteronism
9 HP:0002914Hyperchloriduria
10 HP:0003127HypocalciuriaHP:0040283
11 HP:0002900Hypokalemia
12 HP:0001960Hypokalemic metabolic alkalosis
13 HP:0002615Hypotension
14 HP:0005579Impaired reabsorption of chloride
15 HP:0000848Increased circulating renin level
16 HP:0003081Increased urinary potassium
17 HP:0000103Polyuria
18 HP:0000128Renal potassium wasting
19 HP:0000127Renal salt wasting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)1187CLCNKAUncertain significancers202069201RCV000714828|RCV000714829; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:93605|MONDO:MONDO:0000909,MedGen:C4310805,OMIM:613090, Orphanet:11211634916916349169CT1:g.16349169C>T-
NM_000085.4(CLCNKB):c.18dup (p.Leu7fs)1188CLCNKBPathogenicrs953686324RCV000711252|RCV000761590; NMedGen:CN517202|MONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637100116371002TTG1:g.16371001_16371002insG-
GRCh37/hg19 1p36.13(chr1:16372179-16388605)1188CLCNKBPathogenic-1RCV001195133; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637217916388605nana-1-
NM_000085.5(CLCNKB):c.236A>G (p.Gln79Arg)1188CLCNKBUncertain significance-1RCV001196695; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637303616373036AG1:g.16373036A>G-
NM_000085.4(CLCNKB):c.371C>T (p.Pro124Leu)1188CLCNKBPathogenicrs121909131RCV000008029; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637441216374412CT1:g.16374412C>TClinGen:CA118912,UniProtKB:P51801#VAR_001624,OMIM:602023.0001C1846343 607364 Bartter syndrome type 3;
NM_000085.5(CLCNKB):c.610G>A1188CLCNKBPathogenicrs121909132RCV000008030|RCV001280721; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:93605|MedGen:CN51720211637503216375032GA1:g.16375032G>AClinGen:CA118913,UniProtKB:P51801#VAR_001625,OMIM:602023.0002C1846343 607364 Bartter syndrome type 3;
NM_000085.4(CLCNKB):c.641C>G (p.Ala214Gly)1188CLCNKBBenignrs1889789RCV000606374|RCV000986251; NMedGen:CN169374|MONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637506316375063CG1:g.16375063C>GClinGen:CA623400CN169374 not specified;
NM_000085.5(CLCNKB):c.656-31del1188CLCNKBConflicting interpretations of pathogenicityrs751608665RCV000791187|RCV001169945; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:93605|MedGen:CN16937411637558416375584GAG1:g.16375584_16375584del-
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter)1188CLCNKBPathogenicrs1570334344RCV000986252; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637563216375632GT1:g.16375632G>T-
NM_000085.4(CLCNKB):c.700T>C (p.Trp234Arg)1188CLCNKBUncertain significancers144517772RCV000626587|RCV001197382; NHuman Phenotype Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687; Human Phenotype Ontology:HP:0000790,MedGen:C0018965|MONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637565916375659TC1:g.16375659T>CClinGen:CA623480C0018965 Hematuria;
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter)1188CLCNKBPathogenicrs201781905RCV000986253; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637566716375667CA1:g.16375667C>A-
NM_000085.5(CLCNKB):c.782-2A>G1188CLCNKBPathogenicrs779908241RCV000008035; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637611116376111AG1:g.16376111A>GOMIM:602023.0007C1846343 607364 Bartter syndrome type 3;
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)1188CLCNKBPathogenicrs377215024RCV000986254; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637635316376353CT1:g.16376353C>T-
NM_000085.4(CLCNKB):c.937_940dup (p.Arg314delinsLysTer)1188CLCNKBLikely pathogenicrs779593707RCV000626588|RCV001197383; NHuman Phenotype Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687; Human Phenotype Ontology:HP:0000790,MedGen:C0018965|MONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637637916376380CCAATA1:g.16376379_16376380insAATAClinGen:CA623594
NM_000085.5(CLCNKB):c.1006G>A (p.Ala336Thr)1188CLCNKBUncertain significance-1RCV001280895; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637704816377048GA1:g.16377048G>A-
NM_000085.4(CLCNKB):c.1046C>A (p.Ala349Asp)1188CLCNKBPathogenicrs121909134RCV000008032; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637708816377088CA1:g.16377088C>AClinGen:CA118915,UniProtKB:P51801#VAR_001626,OMIM:602023.0004C1846343 607364 Bartter syndrome type 3;
NM_000085.4(CLCNKB):c.1294T>C (p.Tyr432His)1188CLCNKBPathogenicrs121909135RCV000008033; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637803916378039TC1:g.16378039T>CClinGen:CA118916,UniProtKB:P51801#VAR_001627,OMIM:602023.0005C1846343 607364 Bartter syndrome type 3;
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg)1188CLCNKBPathogenicrs755714542RCV000986255; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637821616378216GA1:g.16378216G>A-
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys)1188CLCNKBConflicting interpretations of pathogenicityrs121909133RCV000008031|RCV000054563; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:93605|MedGen:CN51720211637821916378219CT1:g.16378219C>TUniProtKB:P51801#VAR_001628,OMIM:602023.0003,ClinGen:CA118914C1846343 607364 Bartter syndrome type 3;
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly)1188CLCNKBPathogenic/Likely pathogenicrs1180658535RCV000991835|RCV001195134; NMedGen:CN517202|MONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637823216378232AG1:g.16378232A>G-
NM_000085.4(CLCNKB):c.1381dup (p.Ile461fs)1188CLCNKBPathogenicrs1057516207RCV000408763; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637828716378288CCA1:g.16378287_16378288insAClinGen:CA10654911
NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs)1188CLCNKBPathogenic-1RCV001196696; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637829616378296CAC1:g.16378296_16378296del-
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val)1188CLCNKBLikely pathogenicrs1570340095RCV000986256; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637830716378307CT1:g.16378307C>T-
NM_000085.5(CLCNKB):c.1476del (p.Gly493fs)1188CLCNKBPathogenicrs1159737562RCV000791188; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637875916378759ACA1:g.16378759_16378759del-
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter)1188CLCNKBPathogenicrs1570341086RCV000986257; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511637884416378844TG1:g.16378844T>G-
NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr)1188CLCNKBBenign-1RCV001196974; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511638024016380240GA1:g.16380240G>A-
NM_000085.4(CLCNKB):c.1783C>T (p.Arg595Ter)1188CLCNKBPathogenicrs370221310RCV000518074|RCV000986258; NMedGen:CN517202|MONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511638195616381956CT1:g.16381956C>TClinGen:CA624027CN517202 not provided;
NM_000085.4(CLCNKB):c.1897del (p.Thr632_Leu633insTer)1188CLCNKBLikely pathogenicrs863224858RCV000198263; NMONDO:MONDO:0011822,MedGen:C1846343,OMIM:607364, Orphanet:112, Orphanet:9360511638221916382219ACA1:g.16382219_16382219delClinGen:CA278988
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