Disease #05696 (BARTS (syndrome, Bartter (BARTS)))

Official abbreviation BARTS
Name syndrome, Bartter (BARTS)
OMIM ID -
Inheritance -
Individuals reported having this disease 51
Phenotype entries for this disease 51
Associated with 2 genes KCNJ1, MAGED2
Associated tissues -
Disease features -
Remarks -


Individuals

51 entries on 1 page. Showing entries 1 - 51.
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00288242 Fam1PatII1 PubMed: Laghmani 2015 3-generation family, 3 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - BARTS 19w-onset polyhydramnios; gestational age at delivery 22w; no neonatal survival MAGED2 MAGED2 1 3 Johan den Dunnen
00288243 Fam1PatII4 PubMed: Laghmani 2015 PatII4 M - - - - 0 - - BARTS 19w-onset polyhydramnios; amniotic fluid index 51cm; gestational age at delivery 27w; neonatal survival; polyuria 5w; nephrocalcinosis; indometacin 1y MAGED2 MAGED2 1 1 Johan den Dunnen
00288244 Fam1PatIII1 PubMed: Laghmani 2015 PatIII1 M - - - - 0 - - BARTS 19w-onset polyhydramnios; amniotic fluid index 98cm; gestational age at delivery 31w; neonatal survival; polyuria 1w; nephrocalcinosis; no indometacin MAGED2 MAGED2 1 1 Johan den Dunnen
00288245 Fam2PatII1 PubMed: Laghmani 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - - - - 0 - - BARTS polyhydramnios; gestational age at delivery 25w; no neonatal survival; MAGED2 MAGED2 2 2 Johan den Dunnen
00288246 Fam2PatII2 PubMed: Laghmani 2015 PatII2 M - - - - 0 - - BARTS 20w-onset polyhydramnios; amniotic fluid index 67cm; gestational age at delivery 28w; neonatal survival; polyuria 5w; no nephrocalcinosis; no indometacin MAGED2 - 0 1 Johan den Dunnen
00288247 Fam3PatII1 PubMed: Laghmani 2015 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother M - - - - 0 - - BARTS polyhydramnios; gestational age at delivery 34w; neonatal survival; no polyuria; no indometacin MAGED2 MAGED2 1 3 Johan den Dunnen
00288248 Fam3PatII2 PubMed: Laghmani 2015 PatII2 M - - - - 0 - - BARTS polyhydramnios; gestational age at delivery 33w; neonatal survival; polyuria; no nephrocalcinosis; indometacin 9y MAGED2 MAGED2 1 1 Johan den Dunnen
00288249 Fam3PatII3 PubMed: Laghmani 2015 PatII3 M - - - - 0 - - BARTS 19w-onset polyhydramnios; amniotic fluid index 72cm; gestational age at delivery 31w; neonatal survival; polyuria; no nephrocalcinosis; indometacin 3y MAGED2 MAGED2 1 1 Johan den Dunnen
00288250 Fam4PatII1 PubMed: Laghmani 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - 0 - - BARTS 20w-onset polyhydramnios; gestational age at delivery 24w; neonatal survival; polyuria 6w; nephrocalcinosis; indometacin 1y MAGED2 MAGED2 1 1 Johan den Dunnen
00288251 Fam5PatII1 PubMed: Laghmani 2015 2-generation family, 1 affected, unaffected parents M - - - - 0 - - BARTS 20w-onset polyhydramnios; gestational age at delivery 26w; neonatal survival; polyuria 4w; nephrocalcinosis; no indometacin MAGED2 MAGED2 1 1 Johan den Dunnen
00288252 Fam6PatII1 PubMed: Laghmani 2015 2-generation family, 1 affected, unaffected parents M - - - - 0 - - BARTS 19w-onset polyhydramnios; amniotic fluid index 40cm; gestational age at delivery 27w; neonatal survival; polyuria 4w; nephrocalcinosis; indometacin 1.2y MAGED2 MAGED2 1 1 Johan den Dunnen
00288253 Fam7PatII1 PubMed: Laghmani 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - - - - 0 - - BARTS polyhydramnios; gestational age at delivery 30w; no neonatal survival; MAGED2 MAGED2 1 2 Johan den Dunnen
00288254 Fam7PatII2 PubMed: Laghmani 2015 PatII2 M - - - - 0 - - BARTS polyhydramnios; gestational age at delivery 29w; neonatal survival; polyuria 1w; nephrocalcinosis; indometacin 2.8y MAGED2 MAGED2 1 1 Johan den Dunnen
00361945 Pat17 PubMed: Brochard 2009 patient M - France white - 0 - - BARTS - SLC12A1 SLC12A1 2 1 Johan den Dunnen
00361946 Pat20.1 PubMed: Brochard 2009 family, 2 affected F - France white - 0 - - BARTS - SLC12A1 SLC12A1 2 2 Johan den Dunnen
00361947 Pat20.2 PubMed: Brochard 2009 relative of Pat20.1 - - France white - 0 - - BARTS - SLC12A1 SLC12A1 2 1 Johan den Dunnen
00361948 Pat21 PubMed: Brochard 2009 patient F - Morocco - - 0 - - BARTS - SLC12A1 SLC12A1 1 1 Johan den Dunnen
00361949 Pat22 PubMed: Brochard 2009 patient F - France white - 0 - - BARTS - SLC12A1 SLC12A1 2 1 Johan den Dunnen
00361950 Pat24 PubMed: Brochard 2009 patient M - France Africa-N - 0 - - BARTS - SLC12A1 SLC12A1 1 1 Johan den Dunnen
00361951 Pat25 PubMed: Brochard 2009 patient M - France white - 0 - - BARTS - SLC12A1 SLC12A1 2 1 Johan den Dunnen
00361952 Pat26 PubMed: Brochard 2009 patient - - Mali - - 0 - - BARTS - SLC12A1 SLC12A1 1 1 Johan den Dunnen
00361953 Pat27 PubMed: Brochard 2009 patient M - Algeria - - 0 - - BARTS - SLC12A1 SLC12A1 1 1 Johan den Dunnen
00361954 Pat28 PubMed: Brochard 2009 patient F - France white - 0 - - BARTS - CLCNKB CLCNKB 1 1 Johan den Dunnen
00361955 Pat29 PubMed: Brochard 2009 patient M - Tunisia - - 0 - - BARTS - CLCNKB CLCNKB 1 1 Johan den Dunnen
00361956 Pat30 PubMed: Brochard 2009 patient F - Congo - - 0 - - BARTS - CLCNKB CLCNKB 1 1 Johan den Dunnen
00361957 Pat31 PubMed: Brochard 2009 patient M - France white - 0 - - BARTS - CLCNKB CLCNKB 1 1 Johan den Dunnen
00361958 Pat32 PubMed: Brochard 2009 patient - - Morocco - - 0 - - BARTS - CLCNKB CLCNKB 1 1 Johan den Dunnen
00361959 Pat33 PubMed: Brochard 2009 patient F - France white - 0 - - BARTS - CLCNKB CLCNKB 1 1 Johan den Dunnen
00361960 Pat34 PubMed: Brochard 2009 patient - - France white - 0 - - BARTS - BSND BSND 1 1 Johan den Dunnen
00361961 Pat35 PubMed: Brochard 2009 patient - - France white - 0 - - BARTS - BSND BSND 1 1 Johan den Dunnen
00361962 Pat36 PubMed: Brochard 2009 patient - - Algeria - - 0 - - BARTS - BSND BSND 1 1 Johan den Dunnen
00361963 Pat37 PubMed: Brochard 2009 patient - - France white - 0 - - BARTS - BSND BSND 1 1 Johan den Dunnen
00361964 Pat1.1 PubMed: Brochard 2009 family, 2 affected F - Algeria - - 0 - - BARTS - KCNJ1 KCNJ1 1 2 Johan den Dunnen
00361965 Pat1.2 PubMed: Brochard 2009 relative of Pat1.1 M - Algeria - - 0 - - BARTS - KCNJ1 KCNJ1 1 1 Johan den Dunnen
00361966 Pat2 PubMed: Brochard 2009 patient F - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 1 Johan den Dunnen
00361967 Pat3 PubMed: Brochard 2009 patient F - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 1 Johan den Dunnen
00361968 Pat4.1 PubMed: Brochard 2009 family, 2 affected M - Mali - - 0 - - BARTS - KCNJ1 KCNJ1 1 2 Johan den Dunnen
00361969 Pat4.2 PubMed: Brochard 2009 relative of Pat4.1 M - Mali - - 0 - - BARTS - KCNJ1 KCNJ1 1 1 Johan den Dunnen
00361970 Pat5 PubMed: Brochard 2009 patient M - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 1 Johan den Dunnen
00361971 Pat6 PubMed: Brochard 2009 patient M - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 1 Johan den Dunnen
00361972 Pat7 PubMed: Brochard 2009 patient F - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 1 Johan den Dunnen
00361973 Pat8 PubMed: Brochard 2009 patient M - France white - 0 - - BARTS - KCNJ1 KCNJ1 1 1 Johan den Dunnen
00361974 Pat9.1 PubMed: Brochard 2009 family, 2 affected F - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 2 Johan den Dunnen
00361975 Pat9.2 PubMed: Brochard 2009 relative of Pat9.1 M - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 1 Johan den Dunnen
00361976 Pat10.1 PubMed: Brochard 2009 family, 2 affected F - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 2 Johan den Dunnen
00361977 Pat10.2 PubMed: Brochard 2009 relative of Pat10.1 F - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 1 Johan den Dunnen
00361978 Pat11 PubMed: Brochard 2009 patient F - Turkey - - 0 - - BARTS - KCNJ1 KCNJ1 1 1 Johan den Dunnen
00361979 Pat12 PubMed: Brochard 2009 patient F - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 1 Johan den Dunnen
00361980 Pat13 PubMed: Brochard 2009 patient F - Morocco - - 0 - - BARTS - KCNJ1 KCNJ1 1 1 Johan den Dunnen
00361981 Pat14 PubMed: Brochard 2009 patient F - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 1 Johan den Dunnen
00361982 Pat15 PubMed: Brochard 2009 patient F - France white - 0 - - BARTS - KCNJ1 KCNJ1 2 1 Johan den Dunnen
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