CLDN1 gene related symptoms and diseases

All the information presented here about the CLDN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CLDN1 gene

Symptoms // Phenotype % Cases
Hepatomegaly Very Common - Between 80% and 100% cases
Cholangitis Very Common - Between 80% and 100% cases
Scaling skin Very Common - Between 80% and 100% cases
Erythroderma Very Common - Between 80% and 100% cases
Sparse body hair Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CLDN1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormality of blood and blood-forming tissues
  • Parakeratosis
  • Alopecia of scalp
  • Concave nail
  • Oligodontia
  • Thick hair
  • Orthokeratosis
  • Hypotrichosis of the scalp

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CLDN1 gene

Here you will find a list of rare diseases related to the CLDN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME


Alternate names

NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME Is also known as ihsc, neonatal ichthyosis-sclerosing cholangitis syndrome, ichthyosis-hypotrichosis-sclerosing cholangitis syndrome, ichthyosis-sclerosing cholangitis syndrome, nisch syndrome

Description

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

Most common symptoms of NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

  • Hepatomegaly
  • Splenomegaly
  • Alopecia
  • Jaundice
  • Scarring


More info about NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

SOURCES: OMIM MESH ORPHANET


Potential gene panels for CLDN1 gene

CLDN1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CLDN1 gene.

More info about this panel

Liver Diseases Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1

More info about this panel

CLDN1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CLDN1 gene.

More info about this panel

Cholestasis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Seq + Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Cholestasis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Cholestasis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cholestasis Sequencing Panel with CNV Detection that also includes the following genes: SLC25A13 TJP2 VPS33B HSD3B7 CLDN1 VIPAS39 ATP8B1 AKR1D1 ABCB11 ABCB4

More info about this panel

Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SLC27A4 ST14 TGM1 ALOXE3 ABCA12 CLDN1 POMP PNPLA1 ABHD5 LIPN

More info about this panel

Hepatic and pancreatic diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B

More info about this panel

Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CLDN1 gene.

More info about this panel

Ichthyoses and related disorders of cornification Panel Panel

Germany.

By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL

More info about this panel

Neonatal and Adult Cholestasis: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2

More info about this panel

CLDN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CLDN1 gene.

More info about this panel

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1

More info about this panel

Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP

More info about this panel


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