DSG1 gene related symptoms and diseases

All the information presented here about the DSG1 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 DSG1 gene

Symptoms // Phenotype % Cases
Palmoplantar keratoderma Common - Between 50% and 80% cases
Hypergranulosis Uncommon - Between 30% and 50% cases
Neoplasm Rare - less than 30% cases
Malabsorption Rare - less than 30% cases
Sepsis Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with DSG1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Inflammatory abnormality of the skin
  • Recurrent skin infections
  • Psoriasiform dermatitis
  • Erythroderma
  • Congenital ichthyosiform erythroderma
  • Hypotrichosis
  • Esophagitis
  • Acantholysis

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DSG1 gene

Here you will find a list of rare diseases related to the DSG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1


Alternate names

PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1 Is also known as kpps1, keratoderma, palmoplantar, striate form i, sppk1, striate palmoplantar keratoderma i, keratosis palmoplantaris striata i

Description

Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by Hunt et al., 2001). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported (Keren et al., 2005; Milingou et al., 2006). Genetic Heterogeneity of Keratosis Palmoplantaris StriataType II PPKS (PPKS2 ) is caused by mutation in the DSP gene (OMIM ) on chromosome 6.Type III PPKS (PPKS3 ) is caused by mutation in the keratin-1 gene (KRT1 ) on chromosome 12q.For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (OMIM ).Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes.

Most common symptoms of PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1

  • Neoplasm
  • Cardiomyopathy
  • Hyperhidrosis
  • Hyperkeratosis
  • Nail dystrophy


More info about PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1

SOURCES: OMIM MESH

SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME


Alternate names

SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME Is also known as congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome, sam syndrome, severe dermatitis, multiple allergies, and metabolic wasting syndrome

Description

Severe dermatitis-multiple allergies-metabolic wasting syndrome is a rare, genetic, epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.

Most common symptoms of SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME

  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Recurrent infections
  • Recurrent respiratory infections


More info about SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME

SOURCES: OMIM ORPHANET

DIFFUSE PALMOPLANTAR KERATODERMA WITH PAINFUL FISSURES


Description

Diffuse palmoplantar keratoderma with painful fissures is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.


More info about DIFFUSE PALMOPLANTAR KERATODERMA WITH PAINFUL FISSURES

SOURCES: ORPHANET

FOCAL PALMOPLANTAR KERATODERMA WITH JOINT KERATOSES


Description

Focal palmoplantar keratoderma with joint keratoses is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.


More info about FOCAL PALMOPLANTAR KERATODERMA WITH JOINT KERATOSES

SOURCES: ORPHANET

STRIATE PALMOPLANTAR KERATODERMA


Alternate names

STRIATE PALMOPLANTAR KERATODERMA Is also known as keratosis palmoplantaris striata et areata, keratosis palmoplantaris varians of wachters, keratosis palmoplantaris striata

Description

Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.

Most common symptoms of STRIATE PALMOPLANTAR KERATODERMA

  • Palmoplantar keratoderma
  • Abnormality of the hair
  • Abnormality of the nail


More info about STRIATE PALMOPLANTAR KERATODERMA

SOURCES: ORPHANET


Potential gene panels for DSG1 gene

DSG1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the DSG1 gene.

More info about this panel

DSG1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DSG1 gene.

More info about this panel

Epidermolysis bullosa panel Panel

Germany.

By Centogene AG - the Rare Disease Company Epidermolysis bullosa panel that also includes the following genes: DST TGM5 FERMT1 CHST8 COL17A1 COL7A1 CSTA DSG1 DSP EXPH5

More info about this panel

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

Platelets, Coagulation disorders Panel Panel

Germany.

By CeGaT GmbH Platelets, Coagulation disorders Panel that also includes the following genes: VHL VWF ADAMTS13 TET2 DSG1 ENTPD1 ETV6 F10 F11 F12

More info about this panel

DSG1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DSG1 gene.

More info about this panel

Epidermolysis Bullosa Panel Panel

Finland.

By Blueprint Genetics Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 ATP2C1 FERMT1 CDSN GRIP1 DSG4 COL17A1 COL7A1 DSG1

More info about this panel

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

Keratosis palmoplantaris striata I, AD Panel

Spain.

By Bioarray

This panel specifically test the DSG1 gene.

More info about this panel


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