Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis; Ilvasc

Description

Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.

Clinical Features

Top most frequent phenotypes and symptoms related to Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis; Ilvasc

  • Hepatomegaly
  • Splenomegaly
  • Alopecia
  • Jaundice
  • Ranula
  • Ichthyosis
  • Dry skin
  • Hypodontia
  • Scarring
  • Epidermal acanthosis
And another 24 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis; Ilvasc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CLDN1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CLDN1
Specificity
100 %
Genes
100 %
Cholestasis Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, CYP7B1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, EPHX1, SLC10A1, NOTCH2, HSD3B7
Specificity
6 %
Genes
100 %
CLDN1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CLDN1
Specificity
100 %
Genes
100 %
Cholestasis Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Cholestasis Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Cholestasis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, CLDN1, NOTCH2, HSD3B7, NR1H4
Specificity
7 %
Genes
100 %
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCA12, ABHD5, TGM1, CLDN1, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, KRT1, CERS3, ALOXE3, PNPLA1, KRT2, CYP4F22, AP1S1, POMP, LIPN, ST14
Specificity
6 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.

By Centogene AG - the Rare Disease Company in Germany.

CLDN1
Specificity
100 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH in Germany.

ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCB11, ABCB4, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, SLC25A13, SMPD1, DGUOK, FAH, MPV17, CYP27A1, MKS1, CFTR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
CLDN1.

By Fulgent Genetics Fulgent Genetics in United States.

CLDN1
Specificity
100 %
Genes
100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes.

By Reference Laboratory Genetics in Spain.

ABCA12, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC3, GJB3, EBP, TGM5, CLDN1, SNAP29, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5, KRT1, LOR , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %

Alternate names

Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis; Ilvasc Is also known as ichthyosis-sclerosing cholangitis syndrome, neonatal ichthyosis-sclerosing cholangitis syndrome, nisch syndrome;ihsc; ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; nisch syndrome.


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