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autosomal recessive congenital ichthyosis 10

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.
Uniprot Description A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
Disease Ontology Description An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.
Mondo Term and Equivalent IDs
MONDO:0014011:  autosomal recessive congenital ichthyosis 10
UMLS:C3554355: