Bartter Syndrome, Type 5, Antenatal, Transient; Barts5

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist (Laghmani et al., 2016).

Genes related to Bartter Syndrome, Type 5, Antenatal, Transient; Barts5

MAGED2

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Clinical Features

Top most frequent phenotypes and symptoms related to Bartter Syndrome, Type 5, Antenatal, Transient; Barts5

Polyhydramnios
Premature birth
Nephrocalcinosis
Hypercalciuria
Hypokalemia
Hyponatremia
Polyuria
Hyperaldosteronism
Renal salt wasting
Alkalosis

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Bartter Syndrome, Type 5, Antenatal, Transient; Barts5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bartter syndrome and related disorders NGS panel. By Connective Tissue Gene Tests (United States). SLC12A1, SLC12A3, CASR, MAGED2, BSND, CLCNKA, CLCNKB, GNA11, KCNJ1 Specificity 12 % Genes 100 %
Bartter syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). SLC12A1, SLC12A3, CASR, MAGED2, BSND, CLCNKA, CLCNKB, GNA11, KCNJ1 Specificity 12 % Genes 100 %
Bartter syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). SLC12A1, SLC12A3, CASR, MAGED2, BSND, CLCNKA, CLCNKB, GNA11, KCNJ1 Specificity 12 % Genes 100 %
Bartter syndrome. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). SLC12A1, MAGED2, BSND, CLCNKA, CLCNKB, KCNJ1 Specificity 17 % Genes 100 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...) View the complete list with 386 more genes Panel complete gene list BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC22A5, SLC25A13, SLC26A1, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A2, SLC7A7, SLC7A9, SLC9A3R1, SMARCAL1, SOX18, STX16, SUCLA2, SUCLG1, TALDO1, TBC1D1, TBX18, HNF1A, HNF1B, THBD, TNXB, TRPC6, TSC1, TSC2, CEP41, UMOD, UPK3A, UROD, VDR, VHL, VPS33B, WNT4, WT1, XDH, IKZF1, C3, ARL6, NEK8, NPHS2, SLC2A9, IFT122, ADAMTS13, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, CBS, IFT52, SALL4, TRAP1, CD19, MAGED2, TRIM32, BSND, ACTN4, SCARB2, ZNF423, CDC73, CFHR4, CFHR3, CD81, DICER1, PLCE1, RRM2B, LRBA, CDC5L, KAT6B, XPO5, SARS2, TNFRSF13C, CDKN1B, INVS, CEP83, SLC22A12, TRPM6, SLC22A10, SOX17, DCDC2, TNFRSF13B, MOCOS, SEC61A1, WDR19, HPSE2, IFT27, NUP205, CRB2, GRIP1, BBS7, SLC36A2, MMAA, COQ8B, NPHP4, CHD1L, KIF14, FRAS1, KANK1, MMAB, BICC1, SLC41A1, SBDS, CHRM3, EIF2AK4, EVC2, KIAA0586, GREM1, TTC8, TMEM260, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, CLDN10, CLDN16, CLDN19, APOPT1, LRIG2, SERAC1, SEC63, RMND1, IFT74, INPP5E, AHI1, WDR60, COL4A1, COL4A3, COL4A4, COL4A5, COX10, COX6B1, PEX26, LMBRD1, PDSS2, SLC16A12, ALG8, CR2, FREM1, INF2, B9D1, TACO1, TCTN3, MMACHC, DYNC2LI1, CFHR5, KANK3, CEP104, TMEM216, HOGA1, CTNS, MMADHC, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, CYP11B2, WDR73, CYP17A1, CYP24A1, SDHAF2, TMEM127, TCTN1, CSPP1, BBS10, BBS12, CEP120, ANKS6, TMEM138, KANK4, FLCN, SLC6A19, WDPCP, XPNPEP3, BBIP1, CCDC28B, WDR34, TMEM67, CCNQ, GLIS3, DGKE, DHCR7, B9D2, DIS3L2, MAGT1, IQCB1, NUP93, CEP290, DSTYK, KIAA0556, IFT140, FASTKD2, RPGRIP1L, FAN1, CEP164, TBC1D24, WDR35, CC2D2A, IFT80, KANK2, DMP1, GLIS2, MAPKBP1, DYNC2H1, IFT43, NUP107, BBS9, SLC26A3, IFT172, KIF7, STRA6, POC1B, SLC6A20, EGF, EHHADH, EIF2AK3, EMP2, ENPP1, AGTR1, AGTR2, COA5, AGXT, ETFA, ETFB, ETFDH, EVC, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FH, TMEM231, FN1, ALAD, FXYD2, G6PC, GALNT3, GALT, GANAB, GATA3, GCDH, GCM2, ALMS1, GLA, GLB1, GNAS, GRHPR, GUCY2C, HADHA, HADHB, CFH, CFHR1, CFHR2, HMBS, HMGCL, HNF4A, HPRT1, HRAS, HSD11B2, ICOS, CFI, IL21, ITGA3, ITGA8, APOL1, JAG1, JAK3, ANOS1, KCNA1, KCNJ1, KCNJ10, APRT, KCNJ5, KCNMB1, AQP2, KL, KLHL3, MAFB, LAMA5, LAMB2, LAMC1, LCAT, LIFR, ARG1, LMX1B, LRP2, LRP4, LRP5, LYZ, LZTFL1, ARHGDIA, ABCD4, MAGEC1, MAX, CD46, MEFV, MEN1, MET, MKKS, MKS1, MPL, MS4A1, ASL, MUC1, MMUT, MVK, MYH9, ASS1, MYO1E, NEK1, NF1, NF2, NFKB1, NFKB2, NOTCH2, NPC1, NPHP1, NPHP3, NPHS1, NR3C2, NRIP1, OCRL, OTC, ATP6V1B1, PAX2, PAX6, PCBD1, PCCA, PCCB, ATP6V0A4, ATP7B, PDE3A, PDE6D, PEX1, PEX10, PEX11B, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, AUH, PHEX, AVPR2, PIK3CA, PKD1, PKD2, PKHD1, PMM2, ACAT1, PRKAR1A, PRKCSH, PRPS1, PTH1R, BBS1, BBS2, PTPRO, BBS4, BBS5, PEX19, PEX2, PEX5, PYGM, RAD51C, RBM8A, REN, RET Specificity 1 % Genes 100 %
MAGED2. By Fulgent Genetics Fulgent Genetics (United States). MAGED2 Specificity 100 % Genes 100 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa (United States). ROBO2, CNNM2, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, BMP4, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC17A5, SLC2A2, SLC34A1, SLC3A1, SLC4A4 , (...) View the complete list with 230 more genes Panel complete gene list ROBO2, CNNM2, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, BMP4, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC17A5, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A1, SLC5A2, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, TBX18, HNF1B, TNFRSF1A, TNXB, TRPC6, TSC1, TSC2, CEP41, TTR, UMOD, UPK3A, VDR, VHL, VPS33B, WNT4, WT1, XDH, ZMPSTE24, ARL6, NEK8, NPHS2, SLC2A9, IFT122, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, SALL4, TRAP1, CD151, MAGED2, TRIM32, NLRP3, BSND, ACTN4, SCARB2, ZNF423, PLCE1, SRGAP1, XPO5, SARS2, INVS, CEP83, SLC22A12, TRPM6, SOX17, KCTD1, ALG1, WDR19, IFT27, NUP205, CRB2, GRIP1, BBS7, COQ8B, NPHP4, CHD1L, KIF14, SLC41A1, GREM1, TTC8, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, VIPAS39, CLDN16, CLDN19, CHD7, ADCY10, IFT74, INPP5E, KIF12, AHI1, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, FREM1, CREBBP, DHTKD1, INF2, B9D1, TCTN3, C2CD3, TMEM216, HOGA1, CTNS, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, WDR73, CYP24A1, TCTN1, CSPP1, BBS10, DACH1, BBS12, ANKS6, TMEM138, C8orf37, WDPCP, XPNPEP3, BBIP1, TMEM107, TMEM67, DGKE, DHCR7, B9D2, IQCB1, NUP93, DLC1, DLG1, CEP290, DSTYK, IFT140, RPGRIP1L, FAN1, CEP164, WDR35, CC2D2A, IFT80, DMP1, GLIS2, DYNC2H1, IFT43, NUP107, BBS9, IFT172, KIF7, E2F3, EGF, EHHADH, EMP2, ENPP1, AGTR1, AGXT, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FGFR1, FN1, FOXP1, FXYD2, GATA3, GDNF, ALMS1, GLA, GLI3, GPC3, GRHPR, GSN, HNF4A, HPRT1, HSD11B2, CFI, APOE, ITGA3, ITGA8, ITGB4, APOL1, JAG1, ANOS1, KCNJ1, KCNJ10, APRT, KCNJ5, AQP2, KLHL3, LAMB2, LMNA, LMX1B, LYZ, LZTFL1, ARHGDIA, MEFV, MKKS, MKS1, MYH9, MYO1E, NEK1, NOTCH2, NPHP1, NPHP3, NPHS1, NR3C2, OCRL, ATP6V1B1, PAX2, PBX1, ATP6V0A4, ATP7B, PHEX, AVPR2, PKD1, PKD2, PKHD1, PMM2, B2M, BBS1, BBS2, PTPRO, BBS4, BBS5, RET Specificity 1 % Genes 100 %

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Sources and references

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