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Epidermolysis bullosa simplex due to plakophilin deficiency
1 OMIM reference -
1 associated gene
24 connected diseases
19 signs/symptoms
Disease Type of connection
Keratosis palmoplantaris striata
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Idiopathic pulmonary fibrosis
Lethal acantholytic epidermolysis bullosa
Pulverulent cataract
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Autosomal recessive epidermolysis bullosa simplex
Dermatopathia pigmentosa reticularis
Naegeli-Franceschetti-Jadassohn syndrome
Diffuse palmoplantar keratoderma with painful fissures
Focal palmoplantar keratoderma with joint keratoses
Severe dermatitis-multiple allergies-metabolic wasting syndrome
17q11 microdeletion syndrome
Amyotrophic lateral sclerosis
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Frontotemporal dementia with motor neuron disease
Synonym(s):
- Ectodermal dysplasia - skin fragility syndrome
- McGrath syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536183
Gene symbol UniProt reference OMIM reference
PKP1 Q13835601975
Very frequent
- Alopecia
- Anomalies of eyelids, eyelashes and lacrimal system
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Eyebrows anomalies
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Blepharitis / eyelid inflammation
- Dry / squaly skin / exfoliation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fissured / scrotal tongue
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Malabsorption / chronic diarrhea / steatorrhea
- Pruritus / itching

Occasional
- Woolly / frizzy hair