Sclerosing Cholangitis, Neonatal; Nsc

Table of contents:

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

Description

Neonatal sclerosing cholangitis is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016).

Genes related to Sclerosing Cholangitis, Neonatal; Nsc

DCDC2

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Clinical Features

Top most frequent phenotypes and symptoms related to Sclerosing Cholangitis, Neonatal; Nsc

Global developmental delay
Hearing impairment
Hypertension
Hepatomegaly
Splenomegaly
Jaundice
Elevated hepatic transaminase
Abnormality of the liver
Pruritus
Stage 5 chronic kidney disease

And another 11 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.

Sclerosing Cholangitis, Neonatal; Nsc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...) View the complete list with 149 more genes Panel complete gene list BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ACTB, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, ANKH, OSBPL2, ABHD12, STRC, CD151, CD164, USH1G, WHRN, OTOA, NLRP3, SLC4A11, BSND, TMC1, TRIOBP, LARS2, CDC14A, CHSY1, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, TBC1D24, CEMIP, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRA, EDNRB, CEACAM16, GRXCR2, EPS8, ERCC2, ERCC3, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, ALMS1, GJB2, GJB6, HARS2, HGF, HOXB1, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MANBA, MCM2, MET, MT-TS1, MT-TS2, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NR2F1, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, ATP6V1B2, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, PMP22, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
OtoSCOPE. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States). ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...) View the complete list with 130 more genes Panel complete gene list ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, BDP1, CDH23, CABP2, LOXL3, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, OSBPL2, STRC, CD164, USH1G, WHRN, OTOA, NLRP3, BSND, TMC1, TRIOBP, LARS2, CDC14A, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, CRYL1, CATSPER2, SLC17A8, POLR1C, CLDN14, POLR1D, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, TBC1D24, GPSM2, PJVK, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRB, CEACAM16, GRXCR2, EPS8, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FOXI1, GATA3, ALMS1, GJB2, GJB6, HGF, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, MCM2, MET, MITF, MT-RNR1, MT-TL1, MT-TS1, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
Liver Diseases Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...) View the complete list with 52 more genes Panel complete gene list SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4, GPBAR1, CLDN1, VIPAS39, PEX26, TMEM216, CTRC, TRMU, CYP27A1, CYP7A1, CYP7B1, DGUOK, DHCR7, CC2D2A, EHHADH, EPHX1, FAH, ATP8B1, AKR1D1, ALDOB, ABCB11, ABCB4, AMACR, HSD17B4, ABCC2, JAG1, LIPA, ABCD3, MKS1, MPV17, MYO5B, NOTCH2, NPC1, NPHP1, NPHP3, NR1H4, ATP7B, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, SERPINA1, POLG, BAAT, PEX19, PEX2, PEX5 Specificity 2 % Genes 100 %
Nephronophthisis Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, IFT172, NPHP1, NPHP3 Specificity 5 % Genes 100 %
Renal Cystic Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...) View the complete list with 55 more genes Panel complete gene list SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7, NPHP4, KIF14, KIAA0586, TTC8, INPP5E, AHI1, B9D1, BMPER, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, BBS10, BBS12, ANKS6, TMEM138, WDPCP, XPNPEP3, TMEM107, TMEM67, GLIS3, B9D2, IQCB1, CEP290, KIAA0556, IFT140, RPGRIP1L, CEP164, CC2D2A, GLIS2, BBS9, IFT172, KIF7, TMEM231, JAG1, MKKS, MKS1, MUC1, NOTCH2, NPHP1, NPHP3, PDE6D, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5, REN Specificity 2 % Genes 100 %
Nephronophthisis Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, IFT172, NPHP1, NPHP3 Specificity 5 % Genes 100 %
Nephronophthisis (NGS panel for 19 genes). By CGC Genetics (Portugal). SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, NPHP1, NPHP3 Specificity 6 % Genes 100 %
Ciliopathies (NGS panel for 90 genes). By CGC Genetics (Portugal). SDCCAG8, SPAG1, CEP41, RSPH1, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, INVS, CEP83, DCDC2, WDR19, CCNO, IFT27, DNAI2, BBS7 , (...) View the complete list with 70 more genes Panel complete gene list SDCCAG8, SPAG1, CEP41, RSPH1, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, INVS, CEP83, DCDC2, WDR19, CCNO, IFT27, DNAI2, BBS7, NPHP4, HYDIN, ZMYND10, TTC8, DNAAF2, RSPH9, INPP5E, DNAAF4, RSPH4A, AHI1, DNAL1, B9D1, DRC1, TCTN3, EXOC8, TMEM216, CCDC39, ARL13B, ARMC4, TTC21B, OFD1, TCTN2, CPLANE1, DNAAF5, CCDC40, TCTN1, CSPP1, PIEZO2, BBS10, CCDC114, BBS12, ANKS6, TMEM138, WDPCP, XPNPEP3, BBIP1, CCDC28B, TMEM67, B9D2, IQCB1, CEP290, RPGRIP1L, CEP164, CC2D2A, DNAH11, GLIS2, DNAH5, DNAI1, CCDC65, BBS9, DNAAF3, KIF7, DNAAF1, CCDC103, TMEM231, ALMS1, LZTFL1, MKKS, MKS1, NODAL, NPHP1, NPHP3, PDE6D, PKD1, PKD2, PKHD1, BBS1, BBS2, BBS4, BBS5 Specificity 2 % Genes 100 %

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Sources and references

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