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Pachyonychia congenita
3 OMIM references -
4 associated genes
50 connected diseases
25 signs/symptoms
Disease Type of connection
Epidermolytic palmoplantar keratoderma
Juvenile myelomonocytic leukemia
Leber congenital amaurosis
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Senior-Loken syndrome
Congenital analbuminemia
Spinocerebellar ataxia type 12
Giant cell glioblastoma
Richieri Costa-Pereira syndrome
B-cell chronic lymphocytic leukemia
Estrogen resistance syndrome
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Pseudohypoaldosteronism type 2E
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Young adult-onset Parkinsonism
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
APC-related attenuated familial adenomatous polyposis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Cabezas syndrome
Congenital bilateral absence of vas deferens
Cystic fibrosis
Dedifferentiated liposarcoma
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Fibronectin glomerulopathy
Gardner syndrome
Hereditary chronic pancreatitis
Hypohidrotic ectodermal dysplasia with immunodeficiency
Idiopathic bronchiectasis
Incontinentia pigmenti
Male infertility with normal virilization due to meiosis defect
Nestor-Guillermo progeria syndrome
Turcot syndrome with polyposis
Well-differentiated liposarcoma
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
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
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
- PC

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
1 MeSH reference: D053549

Gene symbol UniProt reference OMIM reference
KRT16 P08779148067
KRT17 Q04695148069
KRT6A P02538148041
KRT6B P04259148042
Very frequent
- Abnormal nails colour / leukonychia / melanonychia
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enanthema / aphtosa / aphta / leukoplakia
- Hair and scalp anomalies
- Hyperhidrosis / increased sweating
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

- Absent / small fingernails / anonychia of hands
- Anomalies of teeth and dentition
- Ichthyosis / ichthyosiform dermatitis
- Multiple caries
- Skin tumors / lumps / epidermal cysts
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

- Abnormal fingernails
- Alopecia
- Autosomal recessive inheritance
- Cataract / lens opacification
- Corneal dystrophy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Laryngomalacia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction