SERPINB7 gene related symptoms and diseases

All the information presented here about the SERPINB7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SERPINB7 gene

Symptoms // Phenotype % Cases
Flexion contracture Very Common - Between 80% and 100% 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
Palmoplantar keratoderma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SERPINB7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Epidermal acanthosis
  • Palmoplantar hyperkeratosis
  • Parakeratosis
  • Hypergranulosis
  • Orthokeratosis
  • Palmoplantar hyperhidrosis
  • Orthokeratotic hyperkeratosis
  • Maceration

Rare diseases associated to SERPINB7 gene

Here you will find a list of rare diseases related to the SERPINB7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE

Alternate names

PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE Is also known as ppk, nagashima type, palmoplantar hyperkeratosis, nagashima type

Description

Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda (see this term).

Most common symptoms of PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE

  • Flexion contracture
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Palmoplantar keratoderma


More info about PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE

SOURCES: ORPHANET OMIM


Potential gene panels for SERPINB7 gene

SERPINB7 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the SERPINB7 gene.

More info about this panel
Germany.

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
Germany.

SERPINB7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SERPINB7 gene.

More info about this panel
United States.

Palmoplantar Keratoderma Panel Panel

Finland.

By Blueprint Genetics Palmoplantar Keratoderma Panel that also includes the following genes: WNT10A SERPINB7 MBTPS2 TRPV3 SLURP1 KRT6C CTSC AAGAB DSG1 DSP

More info about this panel
Finland.

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