Diaphragmatic Hernia 2

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

GATA4, ZFPM2, WT1, GATA6, STAT3, FREM1, KCNQ5, FGFRL1, CCL2, EPO, FOXC2, DES, IGF2R, MYOD1, FOXF1, IGF1R, RHOA, PIM1, INSR, WNT11, CCN2, EFNB1, PIGN, RARB, FBN1, LRP2, GPC3, NIPBL, MYRF, FREM2

GATA4, ZFPM2, WT1, GATA6, STAT3, FREM1, KCNQ5, FGFRL1, CCL2, EPO, FOXC2, DES, IGF2R, MYOD1, FOXF1, IGF1R, RHOA, PIM1, INSR, WNT11, CCN2, EFNB1, PIGN, RARB, FBN1, LRP2, GPC3, NIPBL, MYRF, FREM2, FRAS1, ARID1A, TRRAP, SMC1A, SMC3, HOXD13, KMT2D, HCCS, HDAC4, KIAA0586, POGZ, NELFA, KCNA1, DPF2, RAP1B, RAP1A, RAD21, PMM2, ABL1, PBX1, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX4, KMT2A, SOX11, TRPS1, LFNG, CD96, KDM6A, NSD2, LETM1, RPS28, GLI3, DIS3L2, HDAC8, DHCR7, ARID1B, TRAIP, ARID2, MESP2, STRA6, COX7B, PORCN, CHRNG, CDK8, SLC2A10, UTP23, HES7, RIPPLY2, MCTP2, PGAP3, RSPO2, DLL3, SETD5, FBLN5, NDUFB11, ROBO4, WNT4, SUFU, KIF7, DACT1, EFEMP2, SH2B1, SIN3A, GPC4, FLNA, NR2F2, HTC2, VEGFA, MIR200B, NAT2, CYP2E1, CHDH, TGFB2, EDN1, ACTB, EDNRB, DISP1, SFTPC, SFTPB, TNF, SLIT3, MEF2A, IL10, CRP, RPS19, PCNA, EDNRA, CD44, ACTA2, LHCGR, BMPR2, EPAS1, HLX, GSTM1, ELN, DIH1, DMRT1, SDHA, ASAH2, RGMA, PJA1, ACE, EFNB2, DRD4, ECE1, CHD2, EGF, ELF3, ENG, NOSIP, EPHB4, IGHV1-12, CHMP2B, ERN1, ESR1, FGF7, COL1A1, CRISPLD2, CDH15, NEIL2, TLX1NB, SFTPA2, SFTPA1, PLF, MIR33A, MIR130A, MIRLET7B, AFP, GSTK1, AGER, AGT, PIGW, AGTR1, SOX7, AKT1, ANGPT1, AQP6, SLCO6A1, XIRP2, EGLN3, CASR, DSEL, ARRDC4, CAV1, CD79A, FOXC1, FGF10, FZD2, MTOR, TBX5, TRPC6, LLGL1, TM7SF2, TIMP2, SMAD2, TGFA, NR2F1, TF, TEK, TCTE3, TCF7L2, TCF4, TBX2, FSTL1, TBX1, MIF, SPP1, MKI67, MMP2, MYL2, NFATC2, NOS3, SLC11A2, SLC6A3, SFTPD, RAC1, TRV-CAC1-2, TWIST1, UROD, LEP, EMILIN1, GFER, TUBA1B, GJB2, GPI, EDIL3, ZEB2, NR3C1, STARD8, TBX4, KCNQ4, NRG1, ALDH1A2, FGF18, ITGA8, AXIN2, FOXA2, HOXB9, GDF5, NDST1, NR4A3, IL4, ITGA6, KIF22, LCN2, MIR1307

Drugs

Sildenafil citrate ( MYSILDECARD, REVATIO )

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For a general phenotypic description and a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 (142340).

Cytogenetics

Shimokawa et al. (2005) reported a 37-week-old infant with left diaphragmatic hernia who had a 46,XY,del(8)(p23.1p23.1) karyotype. Surgical repair was unsuccessful, and postmortem examination showed hypoplasia of the left lung and atrial septal defect. Microsatellite analysis showed that the deletion was of paternal origin, and his parents did not carry 8p23.1 polymorphic inversion. Shimokawa et al. (2005) stated that this was the fourth report of CDH associated with 8p23.1 deletion (see Pecile et al., 1990; Faivre et al., 1998; Borys and Taxy, 2004). The form of CDH associated with 8p23.1 deletion has been designated here as DIH2.

By array CGH, Slavotinek et al. (2005) screened patients with DIH and additional phenotypic anomalies consistent with Fryns syndrome for cryptic chromosomal aberrations. They identified submicroscopic chromosome deletions in 3 probands who had previously been diagnosed with Fryns syndrome and had normal karyotyping with G-banded chromosome analysis. Two female infants were found to have microdeletions involving 15q26.2, and 1 male infant had a deletion in band 8p23.1.