And Sclerosing Cholangitis Alopecia Leukocyte Vacuoles Ichthyosis

Also Known As:

Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis; ILVASC; Ichthyosis-Sclerosing Cholangitis Syndrome; Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome; Nisch Syndrome

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Skin and Connective Tissue Diseases
- Skin Diseases: 13127
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Alopecia: 7880
    - And Sclerosing Cholangitis Alopecia Leukocyte Vacuoles Ichthyosis: 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - And Sclerosing Cholangitis Alopecia Leukocyte Vacuoles Ichthyosis: 6
- Diseases Newborn Infant: 266
  - Ichthyosis: 1008
    - And Sclerosing Cholangitis Alopecia Leukocyte Vacuoles Ichthyosis: 6
Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Leukocyte Disorders: 8
    - And Sclerosing Cholangitis Alopecia Leukocyte Vacuoles Ichthyosis: 6
Digestive System Diseases: 1042
- Biliary Tract Diseases: 466
  - Bile Duct Diseases: 95
    - Cholangitis: 3567
      - Sclerosing Cholangitis: 2662
        And Sclerosing Cholangitis Alopecia Leukocyte Vacuoles Ichthyosis: 6
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Membrane Proteins: 10078
    - Tight Junction Proteins: 1698
      - Claudins: 1049
        Claudin-1: 825
        And Sclerosing Cholangitis Alopecia Leukocyte Vacuoles Ichthyosis: 6

Related Diseases

1.	Sclerosing Cholangitis
2.	Ichthyosis (Xeroderma)
3.	And Sclerosing Cholangitis Alopecia Leukocyte Vacuoles Ichthyosis
4.	Rare Diseases (Rare Disease)
5.	Liver Diseases (Liver Disease)

Experts

1.	Jacquemin, Emmanuel: 2 articles (04/2012 - 11/2004)
2.	Hadj-Rabia, Smail: 2 articles (01/2008 - 11/2004)
3.	Brandner, Johanna M: 1 article (01/2018)
4.	Gorzelanny, Christian: 1 article (01/2018)
5.	Gruber, Robert: 1 article (01/2018)
6.	Grzybowski, Stephan: 1 article (01/2018)
7.	Harcup, Jason: 1 article (01/2018)
8.	Houdek, Pia: 1 article (01/2018)
9.	Majumdar, Amitabha: 1 article (01/2018)
10.	Schneider, Stefan W: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to And Sclerosing Cholangitis Alopecia Leukocyte Vacuoles Ichthyosis:

1.	Claudin-1IBA 01/01/2018 - "This is in line with a hair growth phenotype in claudin-1 deficient patients (NISCH syndrome) and corresponding knock-out mice and indicates an important role of claudin-1 in HF barrier function and growth." 04/01/2012 - "Defect in claudin-1 expression increases paracellular permeability in polarized hepatic cell lines, supporting the hypothesis that paracellular bile leakage through deficient TJs is involved in liver pathology observed in NISCH syndrome." 04/01/2012 - "Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability." 11/01/2004 - "Lack of claudin-1 in NISCH syndrome may lead to increased paracellular permeability between epithelial cells. " 08/19/2023 - "Neonatal Ichthyosis and sclerosing cholangitis (NISCH) syndrome with a novel Claudin-1 (CLDN1) mutation: A report from India."
2.	Tight Junction ProteinsIBA 01/01/2008 - "Human epidermal Langerhans cells express the tight junction protein claudin-1 and are present in human genetic claudin-1 deficiency (NISCH syndrome)." 10/09/2023 - "Neonatal ichthyosis and sclerosing cholangitis syndrome (NISCH), also known as ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC), is an extremely rare disease of autosomal recessive inheritance, resulting from loss of function of the tight junction protein claudin-1. "
3.	Proteins (Proteins, Gene)FDA Link 04/01/2012 - "Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is a liver disease caused by mutations of CLDN1 encoding Claudin-1, a tight-junction (TJ) protein. "