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
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
Search interest in CTSB
Potential gene panels for CTSB gene
CTSB Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CTSB gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NSMF NDUFV1 LPCAT2 BCORL1 HCFC1 DRD4 MMAA