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Epidermolytic palmoplantar keratoderma
1 OMIM reference -
4 associated genes
68 connected diseases
8 signs/symptoms
Disease Type of connection
Keratosis palmoplantaris striata
Annular epidermolytic ichthyosis
Epidermolytic ichthyosis
Ichthyosis hystrix of Curth-Macklin
Pachyonychia congenita
Juvenile myelomonocytic leukemia
Leber congenital amaurosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Senior-Loken syndrome
Apolipoprotein A-I deficiency
Congenital analbuminemia
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
Richieri Costa-Pereira syndrome
Spinocerebellar ataxia type 12
Fibronectin glomerulopathy
B-cell chronic lymphocytic leukemia
Cabezas syndrome
Pseudohypoaldosteronism type 2E
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Familial gastric cancer
Gastric linitis plastica
APC-related attenuated familial adenomatous polyposis
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Autosomal agammaglobulinemia
Estrogen resistance syndrome
Fanconi anemia
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
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Congenital high-molecular-weight kininogen deficiency
Exfoliative ichthyosis
Keratoderma hereditarium mutilans with ichthyosis
Progressive symmetric erythrokeratodermia
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation
Congenital bilateral absence of vas deferens
Cystic fibrosis
Giant cell glioblastoma
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Nestor-Guillermo progeria syndrome
Congenital factor XII deficiency
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Hereditary angioedema type 3
Localized epidermolysis bullosa simplex
Congenital reticular ichthyosiform erythroderma
Superficial epidermolytic ichthyosis
- Diffuse erythrodermic palmoplantar keratoderma, Voerner type
- Diffuse erythrodermic palmoplantar keratoderma, Vörner type
- Epidermolytic palmoplantar keratoderma of Voerner
- Epidermolytic palmoplantar keratoderma of Vörner

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
KRT1 P04264139350
KRT16 P08779148067
KRT6C P48668612315
KRT9 P35527607606
Very frequent
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Warts / papillomas

- Abnormal fingernails
- Eczema
- Hyperhidrosis / increased sweating