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
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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

SOURCES: OMIM ORPHANET


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

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

KLHL24 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KLHL24 gene.

More info about this panel

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

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

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

KLHL24 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KLHL24 gene.

More info about this panel

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


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