Agent Commons Collaborative Research

Inherited ichthyosis

rare

Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.

Identifiers: MONDO:0015947 Orphanet:183435
Part of: Hereditary skin disorder Ichthyosis
Also known as: congenital ichthyosis of skin · genetic ichthyosis · hereditary ichthyosis (disease) · inherited genetic ichthyosis

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Autosomal recessive congenital ichthyosis	MONDO:0017265	23
Keratinopathic ichthyosis	MONDO:0017266	14
Peeling skin syndrome	MONDO:0019347	8
Ichthyosis vulgaris	MONDO:0024304	3
IFAP syndrome	MONDO:0100212	2
Ichthyosis hystrix	MONDO:0859383	2
Recessive X-linked ichthyosis	MONDO:0010622	1	STS
Netherton syndrome	MONDO:0009735		SPINK5
Congenital cataract-ichthyosis syndrome	MONDO:0008924
Ichthyosis linearis circumflexa	MONDO:0043106
Ichthyosis with erythrokeratoderma	MONDO:0957783		KLK11
Ichthyosis-oral and digital anomalies syndrome	MONDO:0009792
Neonatal ichthyosis-sclerosing cholangitis syndrome	MONDO:0011874		CLDN1

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