Keratinopathic ichthyosis

Summary

Keratinopathic ichthyosis (MONDO:0017266) is a disease (an umbrella term covering 5 Mondo subtypes). A subtype of inherited ichthyosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 1 000 000 (France) [Orphanet-validated]
• Umbrella term: 5 Mondo subtypes

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 1 000 000	0.11	France	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	keratinopathic ichthyosis
Mondo ID	MONDO:0017266
Orphanet	281103
ICD-11	992865924
SNOMED CT	724837004
UMLS	C4511307
MedGen	1393111
GARD	0021107
Is cancer (heuristic)	no

Also known as: KPI

Disease family

This is a subtype of inherited ichthyosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › epidermal disease › ichthyosis › inherited ichthyosis › keratinopathic ichthyosis

Related subtypes (12): congenital cataract-ichthyosis syndrome, Netherton syndrome, ichthyosis-oral and digital anomalies syndrome, recessive X-linked ichthyosis, neonatal ichthyosis-sclerosing cholangitis syndrome, autosomal recessive congenital ichthyosis, peeling skin syndrome, ichthyosis vulgaris, ichthyosis linearis circumflexa, IFAP syndrome, ichthyosis hystrix, ichthyosis with erythrokeratoderma

Subtypes (5): epidermolytic ichthyosis, ichthyosis hystrix of Curth-Macklin, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma, epidermolytic nevus

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.