ST14 gene related symptoms and diseases

All the information presented here about the ST14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ST14 gene

Symptoms // Phenotype % Cases
Ichthyosis Very Common - Between 80% and 100% cases
Congenital ichthyosiform erythroderma Common - Between 50% and 80% cases
Erythroderma Common - Between 50% and 80% cases
Hypotrichosis Common - Between 50% and 80% cases
Brittle hair Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ST14 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Alopecia
  • Sparse and thin eyebrow
  • Congenital nonbullous ichthyosiform erythroderma
  • Not very common - Between 30% and 50% cases

  • Allergic rhinitis
  • Trichorrhexis nodosa
  • Increased IgE level
  • Angioedema
  • Hyperhidrosis

And 72 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ST14 gene

Here you will find a list of rare diseases related to the ST14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NETHERTON SYNDROME


Alternate names

NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige, comÈl-netherton syndrome, bamboo hair syndrome, comel-netherton syndrome, ns, netherton disease

Description

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

Most common symptoms of NETHERTON SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


More info about NETHERTON SYNDROME

SOURCES: OMIM MESH ORPHANET

ICHTHYOSIS-HYPOTRICHOSIS SYNDROME


Alternate names

ICHTHYOSIS-HYPOTRICHOSIS SYNDROME Is also known as ifah syndrome, ichthyosis-follicular atrophoderma-hypotrichosis syndrome, ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome, ihs, hypotrichosis-congenital ichthyosis syndrome

Description

Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.

Most common symptoms of ICHTHYOSIS-HYPOTRICHOSIS SYNDROME

  • Hypotrichosis
  • Ichthyosis


More info about ICHTHYOSIS-HYPOTRICHOSIS SYNDROME

SOURCES: ORPHANET

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11


Alternate names

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11 Is also known as arih, ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis, ichthyosis with hypotrichosis, autosomal recessive, ifah

Description

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

Most common symptoms of ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11

  • Flexion contracture
  • Abnormality of the dentition
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11

SOURCES: OMIM MESH


Potential gene panels for ST14 gene

ST14 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ST14 gene.

More info about this panel

Hereditary ichthyosis (NGS panel of 53 genes) Panel

Portugal.

By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1

More info about this panel

Hereditary ichthyosis (NGS panel of 53 genes) Panel

Portugal.

By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1

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

Ichthyosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis Deletion / Duplication panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

Ichthyosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis NGS panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

Ichthyosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis Comprehensive panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

Ichthyosis, congenital, autosomal recessive, type 11 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ST14 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

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

ST14 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ST14 gene.

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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