Hydrops Fetalis, Nonimmune, And/or Atrial Septal Defect, Susceptibility To; Hfasd

Table of contents:

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

Description

HFASD is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016).

Genes related to Hydrops Fetalis, Nonimmune, And/or Atrial Septal Defect, Susceptibility To; Hfasd

EPHB4

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Clinical Features

Top most frequent phenotypes and symptoms related to Hydrops Fetalis, Nonimmune, And/or Atrial Septal Defect, Susceptibility To; Hfasd

Anemia
Respiratory distress
Atrial septal defect
Edema
Hernia
Ascites
Congenital diaphragmatic hernia
Lymphedema
Hydrops fetalis
Pericardial effusion

And another 6 symptoms. If you need more information about this disease we can help you.

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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.

Hydrops Fetalis, Nonimmune, And/or Atrial Septal Defect, Susceptibility To; Hfasd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Primary lymphedema and Hydrops fetalis. By Center for Human Genetics Cliniques Universitaires Saint Luc (Belgium). SOS1, SOX18, VEGFC, GJC2, FAT4, PIEZO1, CCBE1, EPHB4, FLT4, FOXC2, GATA2, GJA1, HGF, HRAS, IKBKG, ITGA9, KIF11, KRAS, NRAS, PTPN11 , (...) View the complete list with 3 more genes Panel complete gene list SOS1, SOX18, VEGFC, GJC2, FAT4, PIEZO1, CCBE1, EPHB4, FLT4, FOXC2, GATA2, GJA1, HGF, HRAS, IKBKG, ITGA9, KIF11, KRAS, NRAS, PTPN11, PTPN14, RAF1, RASA1 Specificity 5 % Genes 100 %
Capillary malformation-Arteriovenous malformation (RASA1, EPHB4, STAMBP, PTEN). By Center for Human Genetics Cliniques Universitaires Saint Luc (Belgium). STAMBP, EPHB4, PTEN, RASA1 Specificity 25 % Genes 100 %
EPHB4. By Fulgent Genetics Fulgent Genetics (United States). EPHB4 Specificity 100 % Genes 100 %
Focus::Renal® NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States). RHEB, ROS1, BRAF, ARID1A, KDM5C, SMO, TP53, TSC1, TSC2, VHL, SETD2, PBRM1, EGFR, EPHB4, ERBB2, FGFR1, FLT3, AKT1, AKT2, MTOR , (...) View the complete list with 12 more genes Panel complete gene list RHEB, ROS1, BRAF, ARID1A, KDM5C, SMO, TP53, TSC1, TSC2, VHL, SETD2, PBRM1, EGFR, EPHB4, ERBB2, FGFR1, FLT3, AKT1, AKT2, MTOR, ALK, HIF1A, KIT, MET, ABL1, PDGFRB, PIK3CA, AXL, BAP1, PTCH1, PTEN, RAF1 Specificity 4 % Genes 100 %
Tempus xO assay. By Tempus Labs, Inc. (United States). BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...) View the complete list with 1627 more genes Panel complete gene list BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1, RPS6KB2, RRM1, CLIP1, RUNX1, RUNX2, RUNX3, RUVBL1, RXRA, RYK, RYR1, RYR2, BID, BLK, BLM, SCN5A, BMI1, SDHA, SDHB, SDHC, SDHD, BMPR1A, SET, SETDB1, SETMAR, SF3A1, SF3B1, BMPR1B, SFPQ, SFRP1, SRSF2, BMX, SGK1, SH2D1A, SH3GL1, SHB, SHC1, SEM1, SHH, PRMT5, SKI, SKIL, SKP2, FOXL2, SLC15A2, SLC19A1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO2B1, SLC22A1, SLC22A2, SLC22A3, BRAF, SLC22A6, BRCA1, BRCA2, BRD1, BRD2, BRD3, SLC6A3, BRDT, SLC6A4, SLIT2, SMARCA1, SMARCA2, HLTF, SMARCA4, SMARCA5, SMARCB1, SMARCC1, SMARCD1, SMARCD2, SMARCD3, SMARCE1, ARID1A, SMC1A, SMC1B, KDM5C, KDM5D, SMO, SOS1, SOS2, SOX1, SOX10, SOX2, SOX21, SOX3, SOX8, SOX9, SP100, SP3, BTC, SPI1, SPIB, SPOP, SPRY2, SPRY3, SRC, SRMS, BTG1, BTG2, BTG3, ABI1, BTK, SSTR1, SSTR2, SSTR3, SSTR4, SSX1, SSX2, SSX3, SSX4, SS18, STAG1, STAG2, STAT1, STAT2, STAT3, STAT4, STAT5A, STAT5B, STAT6, STK11, AURKB, AURKC, AURKA, PLK4, STK19, NEK4, STK3, STK4, BTRC, SULT1A1, SUV39H1, BUB1, BUB1B, SYK, BUB3, EPCAM, TAF1, TAF15, TAL1, TAL2, TBL1X, TBP, TBX18, TBX2, TBX22, TBX3, TBXAS1, ELOC, HNF1A, TCF12, HNF1B, TCF3, TCF4, TCF7, TCF7L1, TCF7L2, TCL1A, TCL1B, TEAD1, TEAD2, TEAD3, TEAD4, TEC, TEF, TEK, TERC, TERF1, TERT, TFE3, TFEB, TFEC, TFG, TGFA, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, TIE1, TRIM24, TINF2, NKX2-1, TLK1, TLK2, TLR1, TLR2, TLR4, TLR5, TMPRSS2, TNFAIP3, TNFRSF14, TNFRSF17, CD40, FAS, CD40LG, FASLG, CD70, TNK1, TNKS, TNNI3, TNNT2, ZNF384, MED12, TOP1, TOP2A, TOP2B, TP53, TP53BP1, TPM1, TPMT, TPTE, TRAF1, TRAF2, TRAF3, TRAF6, TRIO, JMJD1C, TRRAP, TSC1, TSC2, TWIST1, TXK, TYK2, TYRO3, U2AF1, UBE2D1, UBE2D2, UBE2D3, UBE4A, UGT1A1, UGT1A4, UHRF1, UHRF2, USP9X, USP9Y, KDM6A, UTY, VAV1, VAV2, VAV3, VDR, VEGFA, VEGFB, VEGFC, VHL, WAS, WASL, BRWD1, NSD2, NSD3, CCN4, WNT1, WNT10B, WNT11, WNT9A, WNT9B, WNT2, WNT2B, WNT3, WNT4, WNT5A, WNT6, WNT7A, WNT7B, WNT8A, WNT8B, WRN, WT1, XBP1, XPA, XPC, XPO1, XRCC2, YES1, YWHAB, YWHAE, YWHAH, YWHAQ, YWHAZ, YY1, ZAP70, ZBTB16, SF1, ACTA2, ZNF217, KAT6A, ZMYM3, PATZ1, EML4, IKZF1, IKZF2, IKZF3, BCL11A, BCL11B, LGR4, HDAC8, KDM3B, NEK7, NEK8, PBX4, TRAF3IP2, SAMD9, ZBTB20, TLX3, BRD4, FBXO8, FBXO11, KDM2A, FBXW11, KDM2B, MAML1, IL22RA1, FOSL1, CTCF, KMT2C, ASPSCR1, WNT10A, FOXP2, CACNA1C, CACNA1S, PRDM8, PRDM9, PRDM11, PRDM12, PRDM13, PRDM15, PRDM16, PRDM14, MGA, SMC2, SMC4, CACNB2, HDAC4, HDAC6, HDAC9, HDAC7, HDAC5, BACH2, EHMT2, BLNK, CIC, RBM14, NSD1, BRPF1, BRPF3, RAB23, CRLF2, ACTC1, XIRP2, MRTFA, NLRP1, NHP2, NOP10, CDK15, GAB2, RNF213, WNK1, WNK2, WNK3, WNK4, CALR, IKBKE, ZEB2, IL22RA2, PPP1R1C, RBM15, CASP8, RUNX1T1, CBFA2T2, CBFA2T3, CBFB, CBL, CBLB, SHOC2, DIAPH3, CBX1, SMYD3, PICALM, CBX2, CBX3, CBX4, CBX5, CBX6, CBX7, SETBP1, SS18L1, TLR7, TLR8, TLR9, TLR10, PHIP, TNKS2, GATA5, CCND1, CCND2, KMT2B, CCND3, PRPF6, CCNE1, CCNE2, PAK5, CBLC, CBX8, TP63, WNT3A, HES2, MOB1A, MED12L, ZNF444, PAK4, PAK6, CRTC1, MLLT10, DUSP22, TRIB3, CTCFL, MAML2, YAP1, WNT5B, WNT16, MAML3, TRIM33, NKX2-8, CD1D, TRIM28, HSPBAP1, CARD11, CARD6, CARD10, CD22, SUFU, ACSL6, CD28, KIF1B, ZBTB33, TLR6, FBXW7, SHC4, ZNF423, CDC73, UBR5, SMURF1, SMURF2, CD44, DACH2, CHD5, TAOK2, ESPL1, BCLAF1, RNF40, ARNT2, REC8, TRIB1, HAX1, RAD51AP1, ZMYND11, FRS3, FRS2, CD79A, CD79B, MLLT11, CD80, KAT7, CD86, CARD8, PALLD, KDM4C, ARHGAP26, ICOSLG, SYNE1, NCSTN, DICER1, ACVR1, SUZ12, HIF1AN, SP140, ADAMTS20, CDC14A, ACVR1B, STK36, CDK1, RAD54B, CDC20, CDC25A, SPDEF, CDC25B, CDC25C, PNRC1, POT1, SUV39H2, CDK11B, TPTE2, ACVR2A, CDK11A, CDK13, BRWD3, CDC42, ARID5B, ACVR2B, CDC6, CDH1, CDH10, CDH11, MINK1, SPEN, STARD3, KAT6B, CDH2, CDH20, CDH3, CD274, PERP, CDH5, CDH7, RABEP1, CDK10, CDK2, CDK3, SPRED2, CDK4, CDK5, CDK6, CDK7, CDK8, SAV1, CDK9, CDKN1A, ADGRA2, CDKN1B, CDKN1C, TRAF3IP1, BBC3, CDKN2A, CDKN2B, LMTK2, RBMXL2, CDKN2C, CDKN3, KAT8, IL17RB, TMC6, ARID2, KDM5B, ARID1B, CDX1, TAF1L, CDX2, ARX, EMSY, WIF1, SOX17, ZNRF3, HDAC10, TAOK3, PHF6, ETV7, FKBP10, CMPK1, SHC3, DCUN1D1, RAB25, PRMT6, ASXL1, CEBPA, CEBPB, CEBPD, IL17RC, CEBPE, CEBPG, CECR2, SETD2, RNF43, KMT2E, CENPE, FEV, ADGRL2, IFNLR1, MSI2, NEK9, NEK11, LRRK2, CES1, CES2, ZBTB7B, CCNB3, GLCCI1, PDCD1LG2, CCDC6, CAMTA1, CREB3L4, CREB3L1, STYK1, MAGI2, MAST1, MAST2, CHD6, CKS1B, HDAC11, ASH1L, IL23R, CD276, CHD1, CHD1L, CHD2, CHD3, CHD4, CHEK1, FOXN3, EPHA6, TNK2, PIM3, CDK19, CHIC1, CHIC2, JMJD6, SOCS1, ING4, SBDS, ADAM17, PLK2, CNKSR1, LGR6, CHUK, SRGAP3, BRD8, GALNT12, CKS2, PCSK9, GREM1, VGLL2, SPRED1, AJUBA, SETDB2, PDS5B, TRAF7, SMC5, SMC6, LSM1, BRIP1, TMC8, SETD3, CCNL1, CYP2R1, DIS3, PHLPP1, CHD7, TWIST2, PHF8, ELP3, FANCL, KDM3A, FOXP4, RSPO3, BCOR, FOXQ1, ADGRL3, SMYD2, VGLL1, SMYD1, AATK, RHOT1, ZC3H12D, ICK, CAPRIN2, SKOR1, PRRX2, CDK20, MIPOL1, PLK3, KDM1B, POU6F2, CNTFR, COL3A1, KLF6, COPS3, PREX2, KDM4A, ZRSR2, MED29, FAT4, FAT3, U2AF2, FANCM, KEAP1, WAPL, CARM1, CREB1, CREBBP, CREM, CRHR1, CRK, CRKL, VKORC1, CREB3L2, ASXL2, E2F7, ZBTB5, SLX4, WWTR1, HES4, CEBPZ, CDK12, KMT5B, ASCL4, CSF1, VGLL3, CSF1R, CSF2RA, CSF2RB, CSF3R, CSK, CSNK1D, CSNK1E, ZNF521, ESCO1, EHMT1, SMC3, TENT5C, FZR1, MLST8, YEATS4, G6PC3, NKX2-5, HDGFL3, HNRNPA3, DOT1L, BABAM1, CTLA4, INTS12, SGO1, CTNNA1, CTNNA2, SP140L, CTNNA3, CTNNB1, CTNND1, CTSD, CTSL, CTSS, KDM4D, CUL3, CUL4A, CUL4B, PRMT7, SETD5, FANCI, CUX1, SLC47A1, BCORL1, MAMLD1, CHD9, USB1, ZNF668, ABRAXAS1, CYLD, KDM8, ZNF750, ZNF703, CYP17A1, TET2, CYP21A2, SDHAF2, TMEM127, ARHGAP10, SETD6, PALB2, CRTC3, CYP2B6, CYP2C19, CYP2C8, CYP2C9, CYP2D6, ZC3H12A, CYP2J2, CYP3A4, CYP3A5, IKBIP, SLC47A2, CYP4F2, DACH1, DAXX, AMER1, DBH, PARP1, DCC, PARP4, DDB2, PARP2, ESCO2, DDIT3, DDR1, CRTC2, DDR2, FLCN, DDX3X, DDX5, DDX6, DEK, ALKBH6, TET3, KMT5C, GID4, TMEM43, GLIS3, RSPO2, DHFR, RICTOR, DHH, DIAPH1, DIAPH2, NIPBL, VTCN1, DKC1, JAZF1, NUP93, TRIM66, SETD1A, KDM6B, KDM1A, PDS5A, SMCHD1, KDM4B, MAU2, PHLPP2, SETD1B, ATAD2B, TAOK1, ASXL3, DMXL1, GLIS2, TET1, KMT5A, 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SP110, IGF1, IGF1R, IGF2, IGF2R, RBPJ, APC, APEX1, BIRC2, BIRC3, XIAP, BIRC5, IHH, ELP1, IKBKB, IL10RA, IL10RB, IL11RA, IL12RB1, IL12RB2, IL13RA1, IL15RA, IL17RA, IL18R1, IL18RAP, IL1R1, IL1R2, IL1RAP, IL20RA, IL20RB, IL21R, IL2RA, IL2RB, IL2RG, IL3, IL3RA, IL4R, IL5RA, IL6R, IL6ST, IL7R, IL9R, ING1, INHBA, INPP4B, INSR, INSRR, FOXP3, IQGAP1, IQGAP2, IRAK1, IRF4, IRF5, IRF6, IRS2, IRS4, ITK, ITPKB, JAK1, JAK2, JAK3, JARID2, JUN, JUNB, JUND, JUP, KCNH2, KCNJ5, KCNQ1, KDR, KEL, KHSRP, KIT, KITLG, KLF12, KLF4, KLF5, KLF8, KRAS, MAFB, AR, ARAF, AFF3, AREG, LATS1, LATS2, LCK, LDB1, LDLR, LEPR, LHCGR, LIFR, ARFRP1, LMNA, LMO1, LMO2, LMO7, RHOA, LPP, RHOB, LRP1B, LRP5, LRP6, LTK, LYL1, LYN, LZTR1, MXD1, MAD1L1, MAD2L1, MAD2L2, SMAD1, SMAD2, SMAD3, SMAD4, SMAD5, SMAD6, SMAD7, SMAD9, MAF, MAGED1, MAK, MALT1, MAOA, MAP2K1, MAP2K2, MAP2K3, MAP2K4, MAP2K5, MAP2K6, MAP2K7, MAP3K1, MAP3K10, MAP3K11, MAP3K12, MAP3K13, MAP3K14, MAP3K2, MAP3K3, MAP3K4, MAP3K5, MAP3K6, MAP3K7, RHOH, MAP3K8, MAP3K9, MAP4, MAP4K1, MAP4K2, MAP4K3, MAP4K4, MAP4K5, DIRAS3, MAPK1, MAPK10, MAPK11, MAPK12, MAPK13, MAPK14, MAPK3, MAPK4, MAPK6, MAPK7, MAPK8, MAPK9, MATK, PHOX2A, MAX, MBD1, MBD3, MC1R, MCL1, MCPH1, MDM2, MDM4, MEF2B, ARNT, MEN1, MERTK, MET, ARPC1A, ARPC1B, MGMT, CIITA, MID1, MITF, MLF1, MLH1, MLH3, KMT2D, MLLT1, AFF1, MLLT3, MLLT6, FOXO4, MN1, MOS, MPG, MPL, MRE11, ARTN, ABCG1, MSH2, MSH3, MSH4, MSH6, ASCL1, MST1, MST1R, ASCL2, ABCG2, ASCL3, MTAP, MTCP1, ASH2L, MUSK, MUTYH, MYB, MYBL1, MYBL2, MYBPC3, MYC, MYCL, MYCN, MYD88, MYH11, MYH7, MYL2, MYL3, MYLK, ABL1, MYOD1, NAB1, NAB2, NAT2, NBN, NCK1, NCK2, NCOA1, NCOA2, NCOA3, NCOA4, NCOR1, NCOR2, NDRG1, ABL2, NEK1, NEK2, NEK3, NEK5, NEK6, NF1, ZFHX3, NF2, NFATC1, NFATC2, NFATC3, NFATC4, NFE2L2, NFIA, NFIB, NFIC, NFIX, NFKB1, NFKB2, NFKBIA, NFKBIB, NFKBIE, NGF, ATF1, NKX2-2, NKX2-3, NKX2-4, NKX3-1, NONO, CNOT3, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NPPB, NPR1, ATM, NR0B1, NR3C1, NR3C2, NR4A1, NR4A2, NR4A3, NRAS, NRG1, NRG2, NRG3, NRIP1, NRTN, NT5C2, NTF3, NTF4, NTRK1, NTRK2, NTRK3, NUMB, NUMBL, NUP214, NUP98, ODC1, OSMR, PAK1, PAK2, PAK3, PRKN, PAX1, PAX2, PAX3, PAX4, PAX5, PAX6, PAX7, PAX8, PAX9, PAXIP1, PBX1, PBX2, PBX3, KAT2B, PCBP1, CDK16, CDK17, CDK18, PDCD1, PDGFA, PDGFB, PDGFC, PDGFRA, PDGFRB, PDK1, PDPK1, ATR, PEG3, ATRX, CDK14, PGF, PGR, PHB, PHF1, PHF2, PIK3C2A, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R4, PIM1, PIM2, PKHD1, PKP2, AXIN1, PLA2G2A, AXIN2, PLAG1, PLAGL1, PLAGL2, AXL, PLCG1, PLCG2, PLK1, PMAIP1, PML, PMS1, PMS2, B2M, PRRX1, PHOX2B, POLD1, POLE, POR, POU2AF1, POU2F2, POU5F1, POU5F1B, POU6F1, PPARD, PPARG, PPFIA1, PPM1D, PPP2R1A, PPP2R1B, PPP2R2B, PPP6C, PRCC, PRDM1, PRDM2, PRDM4, PRDM5, BACH1, PRDM6, PRDM7, PRF1, PRKACA, PRKACB, PRKAG2, PRKAR1A, PRKAR1B, ZMYND8, OLIG2, BAG4, PRKCI, PRKD1, PRKDC, PRLR, ADGRB3, PRSS1, PRSS3, PRSS8, BAP1, PSEN1, PSEN2, NKX3-2, BARD1, PSIP1, PSPN, PTCH1, PTCH2, PTEN, BAX, BAZ1A, PTGIS, PTGS1, PTGS2, BAZ1B, PTK2, PTK2B, PTK6, PTK7, BAZ2A, BAZ2B, PTPN11, PTPN2, PTPN21, PTPN6, PTPRB, PTPRC, PTPRD, PTPRF, PTPRG, PTPRJ, PTPRK, PTPRM, PTPRQ, PTPRR, PTPRT, PTTG1, PVT1, BCAR3, RAC1, RAC2, RAD21, RAD50, RAD51, RAD51C, RAD51B, RAD51D, RAD52, RAD54L, RAF1, RAP1GDS1, RARA, RARB, RARG, RASA1, RB1, KDM5A, BCL10, RBM10, BCL2A1, RBMX, BCL2L1, BCL2L11, RECQL4, BCL2L2, REL, RELA, RELB, RET, BCL3 Specificity 1 % Genes 100 %

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Sources and references

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