CTSB gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CTSB gene

Symptoms // Phenotype % Cases
Hyperhidrosis Very Common - Between 80% and 100% cases
Hyperkeratosis Very Common - Between 80% and 100% cases
Erythema Very Common - Between 80% and 100% cases
Pruritus Very Common - Between 80% and 100% cases
Abnormal blistering of the skin Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Epidermal acanthosis
  • Inflammatory abnormality of the skin
  • Pustule
  • Palmoplantar erythema
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Rare diseases associated to CTSB gene

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


KERATOLYTIC WINTER ERYTHEMA


Alternate names

KERATOLYTIC WINTER ERYTHEMA Is also known as oudtshoorn disease, oudtshoorn skin disease, erythrokeratolysis hiemalis

Description

Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.

Most common symptoms of KERATOLYTIC WINTER ERYTHEMA

  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Pruritus
  • Abnormal blistering of the skin


More info about KERATOLYTIC WINTER ERYTHEMA

SOURCES: ORPHANET MESH OMIM


Potential gene panels for CTSB gene

CTSB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CTSB gene.

More info about this panel


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