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Hypopigmentation-punctate palmoplantar keratoderma syndrome
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive hypophosphatemic rickets
Generalized arterial calcification of infancy
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Amyotrophic lateral sclerosis
Synonym(s):
- Cole disease
- Guttate hypopigmentation and punctate palmoplantar keratoderma
- Hypopigmentation and punctate keratosis of the palms and soles
Classification (Orphanet):
- 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: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ENPP1 P22413173335
No signs/symptoms info available.