KLHL24 gene related symptoms and diseases
All the information presented here about the KLHL24 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KLHL24 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Alopecia | Very Common - Between 80% and 100% cases |
| Scarring | Very Common - Between 80% and 100% cases |
| Palmoplantar keratoderma | Very Common - Between 80% and 100% cases |
| Hypopigmentation of the skin | 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 KLHL24 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Milia
- Fragile skin
- Sparse body hair
- Aplasia cutis congenita
- Alopecia of scalp
- Dystrophic toenail
- Diffuse palmoplantar keratoderma
Rare diseases associated to KLHL24 gene
Here you will find a list of rare diseases related to the KLHL24. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GENERALIZED BASAL EPIDERMOLYSIS BULLOSA SIMPLEX WITH SKIN ATROPHY, SCARRING AND HAIR LOSS
Most common symptoms of GENERALIZED BASAL EPIDERMOLYSIS BULLOSA SIMPLEX WITH SKIN ATROPHY, SCARRING AND HAIR LOSS
- Alopecia
- Scarring
- Palmoplantar keratoderma
- Hypopigmentation of the skin
- Abnormal blistering of the skin
More info about GENERALIZED BASAL EPIDERMOLYSIS BULLOSA SIMPLEX WITH SKIN ATROPHY, SCARRING AND HAIR LOSS
Search interest in KLHL24
Potential gene panels for KLHL24 gene
EBSeq Epidermolysis Bullosa Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EBSeq Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 KLHL24 DSP
More info about this panel United States.
KLHL24 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 KLHL24 gene.
More info about this panel United States.
KLHL24 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the KLHL24 gene.
More info about this panel Germany.
Epidermolysis bullosa Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Epidermolysis bullosa Comprehensive panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP
More info about this panel United States.
Epidermolysis bullosa NGS panel Panel
United States.
By Connective Tissue Gene Tests Epidermolysis bullosa NGS panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP
More info about this panel United States.
Epidermolysis bullosa Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Epidermolysis bullosa Deletion / Duplication panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP
More info about this panel United States.
KLHL24 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KLHL24 gene.
More info about this panel United States.
EPIDERMOLISIS BULLOSA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL EPIDERMOLISIS BULLOSA: NGS PANEL that also includes the following genes: DST TGM5 FERMT1 COL17A1 COL7A1 KLHL24 DSP EXPH5 ITGA3 ITGA6
More info about this panel Spain.
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