Hypopigmentation-punctate palmoplantar keratoderma syndrome

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Subtype of: Palmoplantar keratoderma, punctate type
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
hypopigmentation-punctate palmoplantar keratoderma syndrome
MONDO_0014227
ENPP1 Causal
19380683 24075184 26617416
ClinGen, Open Targets
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Hypopigmentation-punctate palmoplantar keratoderma syndrome.
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Cole disease 1 shared geneENPP1 Related via 1 shared gene including ENPP1. Coronary medial sclerosis of infancy 1 shared geneENPP1 Related via 1 shared gene including ENPP1. Arterial calcification, generalized, of infancy, 1 1 shared geneENPP1 Related via 1 shared gene including ENPP1. Generalised arterial calcification of infancy and hypophosphatemic rickets 1 shared geneENPP1 Related via 1 shared gene including ENPP1. Hypophosphatemic rickets, autosomal recessive, 2 1 shared geneENPP1 Related via 1 shared gene including ENPP1.