NCSTN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to NCSTN gene

Symptoms // Phenotype % Cases
Scarring Very Common - Between 80% and 100% cases
Pruritus Very Common - Between 80% and 100% cases
Inflammatory abnormality of the skin Very Common - Between 80% and 100% cases
Acne Very Common - Between 80% and 100% cases
Atypical scarring of skin Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Acne inversa
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Rare diseases associated to NCSTN gene

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


ACNE INVERSA, FAMILIAL, 1; ACNINV1


Alternate names

ACNE INVERSA, FAMILIAL, 1; ACNINV1 Is also known as hidradenitis suppurativa, familial, acne inversa, familial

Description

Acne inversa is a chronic relapsing inflammatory skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hairs and apocrine glands. Healing occurs with substantial scarring (summary by Jansen et al., 2001).Jansen et al. (2001) provided a detailed history and review of the disorder. Genetic Heterogeneity of Familial Acne InversaFamilial acne inversa-2 with or without Dowling-Degos disease (ACNINV2 ) is caused by mutation in the PSENEN gene (OMIM ) on chromosome 19q13, and familial acne inversa-3 (ACNINV3 ) is caused by mutation in the PSEN1 gene (OMIM ) on chromosome 14q24.

Most common symptoms of ACNE INVERSA, FAMILIAL, 1; ACNINV1

  • Scarring
  • Pruritus
  • Inflammatory abnormality of the skin
  • Acne
  • Atypical scarring of skin


More info about ACNE INVERSA, FAMILIAL, 1; ACNINV1

SOURCES: ORPHANET OMIM


Potential gene panels for NCSTN gene

NCSTN Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the NCSTN gene.

More info about this panel

Autoinflammatory panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Autoinflammatory panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN NLRP3 NCSTN NLRP12 NLRP7 PSENEN NOD2

More info about this panel

NCSTN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NCSTN gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

FoundationOneĀ® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOneĀ® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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